Variant report

Variant	nsv906913
Chromosome Location	chr16:75267743-75306402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2785)
CpG islands
(count:3116)
Chromatin interactive
region (count:96)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2785 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:75284754-75284989	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:75267970-75268075	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:75278790-75279778	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:75299975-75300162	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:75300013-75300072	K562	blood:	n/a	n/a
6	ARID3A	chr16:75296306-75296808	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:75301931-75301941	HepG2	liver:	n/a	n/a
8	ARID3A	chr16:75285503-75285526	HepG2	liver:	n/a	n/a
9	ATF2	chr16:75267686-75268128	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr16:75287100-75287778	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr16:75267681-75268152	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr16:75299568-75300001	HepG2	liver:	n/a	n/a
13	ATF3	chr16:75278958-75279468	A549	lung:	n/a	chr16:75279119-75279128
14	BACH1	chr16:75284983-75285055	K562	blood:	n/a	n/a
15	BACH1	chr16:75290092-75290374	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr16:75287349-75287641	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr16:75267800-75268063	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr16:75272945-75273159	GM12878	blood:	n/a	chr16:75273058-75273068 chr16:75273062-75273072 chr16:75273057-75273068
19	BATF	chr16:75292159-75292381	GM12878	blood:	n/a	n/a
20	BATF	chr16:75279083-75279318	GM12878	blood:	n/a	n/a
21	BCL3	chr16:75285077-75285542	A549	lung:	n/a	chr16:75285477-75285490 chr16:75285464-75285477
22	BCL3	chr16:75278595-75279341	A549	lung:	n/a	chr16:75279177-75279190 chr16:75278842-75278851 chr16:75279200-75279209
23	BCL3	chr16:75299878-75300325	A549	lung:	n/a	chr16:75300019-75300028
24	BCL3	chr16:75278966-75279849	A549	lung:	n/a	chr16:75279177-75279190 chr16:75279200-75279209 chr16:75279429-75279438
25	BCL3	chr16:75279078-75279382	GM12878	blood:	n/a	chr16:75279177-75279190 chr16:75279200-75279209
26	BCL3	chr16:75287948-75288419	A549	lung:	n/a	n/a
27	BCL3	chr16:75274919-75275235	GM12878	blood:	n/a	n/a
28	BCL3	chr16:75267659-75268297	A549	lung:	n/a	n/a
29	BCLAF1	chr16:75267708-75268185	GM12878	blood:	n/a	n/a
30	BCLAF1	chr16:75267726-75268147	GM12878	blood:	n/a	n/a
31	BCLAF1	chr16:75299799-75300207	GM12878	blood:	n/a	chr16:75300019-75300028
32	BHLHE40	chr16:75299871-75300160	K562	blood:	n/a	chr16:75299884-75299900
33	BHLHE40	chr16:75296529-75296613	K562	blood:	n/a	n/a
34	BHLHE40	chr16:75267769-75268654	K562	blood:	n/a	chr16:75267840-75267856
35	BHLHE40	chr16:75279217-75279685	A549	lung:	n/a	n/a
36	BHLHE40	chr16:75285775-75285965	K562	blood:	n/a	n/a
37	BHLHE40	chr16:75267829-75268201	A549	lung:	n/a	chr16:75267840-75267856
38	BHLHE40	chr16:75284677-75284774	K562	blood:	n/a	n/a
39	BHLHE40	chr16:75299784-75300647	GM12878	blood:	n/a	chr16:75299884-75299900 chr16:75300514-75300523 chr16:75300509-75300530
40	BHLHE40	chr16:75300430-75300540	K562	blood:	n/a	chr16:75300514-75300523 chr16:75300509-75300530
41	BHLHE40	chr16:75296220-75296766	HepG2	liver:	n/a	n/a
42	BHLHE40	chr16:75278877-75279832	HepG2	liver:	n/a	n/a
43	BHLHE40	chr16:75267757-75268256	GM12878	blood:	n/a	chr16:75267840-75267856
44	BHLHE40	chr16:75290063-75290263	K562	blood:	n/a	n/a
45	BHLHE40	chr16:75297927-75298092	HepG2	liver:	n/a	n/a
46	BHLHE40	chr16:75299865-75300600	HepG2	liver:	n/a	chr16:75299884-75299900 chr16:75300514-75300523 chr16:75300509-75300530
47	BHLHE40	chr16:75267758-75268355	HepG2	liver:	n/a	chr16:75267840-75267856
48	BHLHE40	chr16:75284275-75285442	HepG2	liver:	n/a	chr16:75284384-75284400 chr16:75284817-75284833
49	BRCA1	chr16:75281445-75281519	HepG2	liver:	n/a	n/a
50	BRCA1	chr16:75270437-75270439	HepG2	liver:	n/a	n/a

(count:3116 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75269222-75269272	SK-N-SH	brain:	n/a
2	chr16:75271872-75271922	GM19239	blood:	n/a
3	chr16:75298977-75299027	HCT-116	colon:	n/a
4	chr16:75285687-75285737	IMR90	lung:	fetal
5	chr16:75300724-75300774	AG09319	gingival:	n/a
6	chr16:75269222-75269272	SK-N-SH	brain:	n/a
7	chr16:75271872-75271922	GM19239	blood:	n/a
8	chr16:75298977-75299027	HCT-116	colon:	n/a
9	chr16:75285687-75285737	IMR90	lung:	fetal
10	chr16:75300724-75300774	AG09319	gingival:	n/a
11	chr16:75285503-75285553	NB4	blood:	n/a
12	chr16:75285489-75285539	HL-60	blood:	n/a
13	chr16:75301973-75302023	HCM	heart:	n/a
14	chr16:75269878-75269928	HIPEpiC	eye:	n/a
15	chr16:75289363-75289413	HEEpiC	esophagus:	n/a
16	chr16:75271872-75271922	HNPCEpiC	eye:	n/a
17	chr16:75284882-75284932	K562	blood:	n/a
18	chr16:75302381-75302431	AG04449	skin:	fetal
19	chr16:75273413-75273463	Caco-2	colon:	n/a
20	chr16:75300041-75300091	GM12891	blood:	n/a
21	chr16:75300041-75300091	HCF	heart:	n/a
22	chr16:75276399-75276449	AG09309	skin:	n/a
23	chr16:75297424-75297474	CMK	blood:	n/a
24	chr16:75301362-75301412	NHDF-neo	bronchial:	n/a
25	chr16:75269564-75269614	LNCaP	prostate:	n/a
26	chr16:75269564-75269614	HIPEpiC	eye:	n/a
27	chr16:75287019-75287069	IMR90	lung:	fetal
28	chr16:75285087-75285137	Hela-S3	cervix:	n/a
29	chr16:75285194-75285244	ProgFib	skin:	n/a
30	chr16:75283648-75283698	AoSMC	blood vessel:	n/a
31	chr16:75283648-75283698	LNCaP	prostate:	n/a
32	chr16:75300724-75300774	HAEpiC	amniotic membrane:	n/a
33	chr16:75269222-75269272	ECC-1	luminal epithelium:	n/a
34	chr16:75267857-75267907	GM06990	blood:	n/a
35	chr16:75285647-75285697	BJ	skin:	n/a
36	chr16:75286009-75286059	IMR90	lung:	fetal
37	chr16:75286915-75286965	HRE	kidney:	n/a
38	chr16:75282051-75282101	NH-A	brain:	n/a
39	chr16:75300041-75300091	A549	lung:	n/a
40	chr16:75300724-75300774	RPTEC	kidney:	n/a
41	chr16:75286009-75286059	Hepatocyte	liver:	n/a
42	chr16:75302381-75302431	HEK293	kidney:	embryo
43	chr16:75300724-75300774	HCT-116	colon:	n/a
44	chr16:75272754-75272804	SK-N-MC	brain:	n/a
45	chr16:75273413-75273463	AG10803	skin:	n/a
46	chr16:75300724-75300774	HRCEpiC	kidney:	n/a
47	chr16:75272306-75272356	AG09309	skin:	n/a
48	chr16:75302825-75302875	IMR90	lung:	fetal
49	chr16:75267857-75267907	GM12892	blood:	n/a
50	chr16:75298977-75299027	ECC-1	luminal epithelium:	n/a

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:
2	chr16:75267417..75268393-chr16:75419148..75420038,5	K562	blood:
3	chr16:75285160..75285722-chr16:75299383..75300023,2	MCF-7	breast:
4	chr16:75281152..75283555-chr16:75283851..75285777,2	K562	blood:
5	chr16:75298255..75301654-chr16:75302973..75305723,3	K562	blood:
6	chr16:75299703..75301536-chr16:75319943..75321807,2	K562	blood:
7	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
8	chr16:75305411..75308006-chr16:75310161..75314701,4	MCF-7	breast:
9	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
10	chr10:3214433..3215063-chr16:75285248..75285799,2	Hela-S3	cervix:
11	chr16:75267848..75268380-chr16:75436252..75437086,4	MCF-7	breast:
12	chr16:75266627..75269823-chr16:75278974..75282464,4	K562	blood:
13	chr16:75283944..75286001-chr16:75320233..75321893,2	MCF-7	breast:
14	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
15	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
16	chr16:75257846..75260546-chr16:75267486..75270015,2	MCF-7	breast:
17	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
18	chr16:75265003..75270372-chr16:75282943..75286802,5	K562	blood:
19	chr16:75267503..75268378-chr16:75435534..75436159,3	K562	blood:
20	chr16:75281206..75283355-chr16:75320437..75323255,2	MCF-7	breast:
21	chr16:75290787..75293360-chr16:75358272..75360844,2	K562	blood:
22	chr1:149856624..149859065-chr16:75299349..75301400,2	MCF-7	breast:
23	chr16:75265485..75267197-chr16:75295049..75296582,2	K562	blood:
24	chr16:75259384..75262203-chr16:75293212..75295661,2	K562	blood:
25	chr16:75267753..75268373-chr16:75301380..75301881,2	MCF-7	breast:
26	chr16:75283733..75286666-chr17:57922628..57925329,2	MCF-7	breast:
27	chr16:75288495..75290514-chr16:75396856..75398580,2	MCF-7	breast:
28	chr16:75266448..75270263-chr16:75270931..75275548,5	MCF-7	breast:
29	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
30	chr16:75285841..75288097-chr16:75366002..75368998,2	MCF-7	breast:
31	chr16:75295597..75297697-chr16:75338747..75341253,2	MCF-7	breast:
32	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
33	chr1:117601739..117602655-chr16:75284708..75285399,2	NB4	blood:
34	chr16:75267679..75270167-chr16:75298164..75300963,4	K562	blood:
35	chr16:75271315..75273372-chr16:75275391..75277280,2	K562	blood:
36	chr16:75277872..75280775-chr16:75339667..75341248,2	MCF-7	breast:
37	chr16:75284336..75286423-chr16:75467172..75469281,2	K562	blood:
38	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
39	chr16:75305715..75307833-chr16:75412001..75414049,2	MCF-7	breast:
40	chr14:32394037..32396201-chr16:75304956..75307730,2	MCF-7	breast:
41	chr16:75267868..75268502-chr16:75797477..75798284,3	K562	blood:
42	chr15:65808939..65809923-chr16:75284799..75285585,2	Hela-S3	cervix:
43	chr16:75232930..75233869-chr16:75267627..75268399,2	MCF-7	breast:
44	chr16:75306196..75308145-chr16:75363526..75365550,2	MCF-7	breast:
45	chr16:75181071..75184316-chr16:75297168..75299985,3	MCF-7	breast:
46	chr16:75266558..75268435-chr16:75272216..75274328,2	K562	blood:
47	chr16:75267671..75268417-chr16:75284819..75286056,3	MCF-7	breast:
48	chr16:75258215..75260449-chr16:75277050..75278735,2	K562	blood:
49	chr16:75265697..75267828-chr16:75295082..75297407,2	K562	blood:
50	chr16:75279429..75281424-chr16:75466908..75468621,2	K562	blood:

No data

Variant related genes	Relation type
BCAR1	TF binding region
BCAR1	CpG island
ENSG00000184678	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000107959	chromatin interactions
ENSG00000240338	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000252101	chromatin interactions
ENSG00000168928	chromatin interactions
ENSG00000184517	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000253154	chromatin interactions
ENSG00000153774	chromatin interactions
ENSG00000259999	chromatin interactions
ENSG00000262583	chromatin interactions
ENSG00000175387	chromatin interactions
ENSG00000261783	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000201524	chromatin interactions

Extended variants
information (count: 1968 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1968 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112125773	chr16:75267743-75267744	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554859076	chr16:75267747-75267748	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370262970	chr16:75267755-75267756	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs144649739	chr16:75267766-75267767	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142603608	chr16:75267776-75267777	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150535333	chr16:75267788-75267789	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368122204	chr16:75267800-75267801	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368527337	chr16:75267858-75267859	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572875666	chr16:75267877-75267878	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545312871	chr16:75267920-75267921	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148444962	chr16:75267941-75267942	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527642804	chr16:75267947-75267948	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs58383536	chr16:75267956-75267957	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184329095	chr16:75267959-75267960	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563439054	chr16:75267970-75267971	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542118792	chr16:75267972-75267973	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548991863	chr16:75267978-75267979	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201587345	chr16:75267994-75267995	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530851268	chr16:75267995-75267996	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564634220	chr16:75267999-75268000	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368595654	chr16:75268006-75268007	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368494228	chr16:75268010-75268011	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559405481	chr16:75268018-75268019	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138882124	chr16:75268023-75268024	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528049161	chr16:75268032-75268033	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200726926	chr16:75268033-75268034	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551703871	chr16:75268042-75268043	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs10533725	chr16:75268056-75268057	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs71985613	chr16:75268061-75268062	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61088861	chr16:75268062-75268063	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs367656674	chr16:75268066-75268067	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs71158590	chr16:75268097-75268098	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs60447098	chr16:75268100-75268101	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187518032	chr16:75268109-75268110	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74250270	chr16:75268120-75268121	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs397778980	chr16:75268123-75268124	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556704174	chr16:75268130-75268131	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537289485	chr16:75268140-75268141	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79668773	chr16:75268150-75268151	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs143736552	chr16:75268156-75268157	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536367402	chr16:75268168-75268169	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553017073	chr16:75268228-75268229	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs55692238	chr16:75268237-75268238	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs4888362	chr16:75268245-75268246	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558872380	chr16:75268249-75268250	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs559261749	chr16:75268250-75268251	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575523035	chr16:75268254-75268255	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544825450	chr16:75268268-75268269	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561303742	chr16:75268269-75268270	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574949836	chr16:75268294-75268295	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2816 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75254600-75268000	Weak transcription	GM12878-XiMat	blood
2	chr16:75260000-75267800	Weak transcription	Stomach Mucosa	stomach
3	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
4	chr16:75261000-75268000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:75261000-75268000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:75261200-75268000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr16:75261400-75267800	Strong transcription	NHDF-Ad	bronchial
8	chr16:75261400-75268000	Strong transcription	Esophagus	oesophagus
9	chr16:75261400-75268000	Strong transcription	Gastric	stomach
10	chr16:75261400-75268000	Strong transcription	HUVEC	blood vessel
11	chr16:75261400-75271800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:75261400-75272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:75261600-75268000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:75261600-75268000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:75261600-75268000	Strong transcription	NHEK	skin
16	chr16:75261800-75267800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:75261800-75268000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:75261800-75268000	Strong transcription	HepG2	liver
19	chr16:75261800-75268000	Weak transcription	K562	blood
20	chr16:75261800-75272200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:75262000-75268000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:75262000-75268000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr16:75262000-75270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:75262000-75271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr16:75262400-75267800	Strong transcription	NH-A	brain
27	chr16:75262800-75270800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr16:75263000-75267800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr16:75263000-75271600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
31	chr16:75263600-75268000	Strong transcription	HSMM	muscle
32	chr16:75263600-75271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:75263800-75267800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:75264000-75268400	Weak transcription	Aorta	Aorta
35	chr16:75264200-75267800	Weak transcription	Ovary	ovary
36	chr16:75264200-75268200	Weak transcription	Brain Angular Gyrus	brain
37	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:75264400-75269000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:75264800-75271800	Strong transcription	Osteobl	bone
40	chr16:75265200-75272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr16:75265400-75268000	Strong transcription	A549	lung
42	chr16:75265600-75268000	Strong transcription	Hela-S3	cervix
43	chr16:75266200-75267800	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr16:75266200-75268000	Strong transcription	Fetal Lung	lung
45	chr16:75266400-75267800	Strong transcription	HMEC	breast
46	chr16:75266400-75268000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr16:75266400-75268000	Strong transcription	Left Ventricle	heart
48	chr16:75266400-75269200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:75266400-75271000	Strong transcription	Brain Germinal Matrix	brain
50	chr16:75266400-75271200	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links