Variant report

Variant	esv3405881
Chromosome Location	chr7:6087760-6122016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1494)
CpG islands
(count:1346)
Chromatin interactive
region (count:80)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1494 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6090500-6091007	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:6120509-6120903	K562	blood:	n/a	n/a
3	ARID3A	chr7:6121225-6121696	K562	blood:	n/a	n/a
4	ARID3A	chr7:6095086-6095449	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:6120514-6121572	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:6097276-6097859	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:6098180-6099118	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:6116652-6117359	HepG2	liver:	n/a	n/a
9	ARID3A	chr7:6096270-6096638	K562	blood:	n/a	n/a
10	ARID3A	chr7:6098646-6098846	K562	blood:	n/a	n/a
11	ATF1	chr7:6096255-6096614	K562	blood:	n/a	n/a
12	ATF2	chr7:6096248-6096642	GM12878	blood:	n/a	n/a
13	ATF2	chr7:6120454-6121069	GM12878	blood:	n/a	n/a
14	ATF2	chr7:6098606-6099013	GM12878	blood:	n/a	n/a
15	ATF2	chr7:6096247-6096705	GM12878	blood:	n/a	n/a
16	ATF2	chr7:6111022-6111452	GM12878	blood:	n/a	n/a
17	ATF3	chr7:6116680-6117330	A549	lung:	n/a	n/a
18	ATF3	chr7:6116695-6117284	A549	lung:	n/a	n/a
19	ATF3	chr7:6116698-6117390	HCT-116	colon:	n/a	n/a
20	ATF3	chr7:6098664-6099082	A549	lung:	n/a	chr7:6098857-6098866
21	BACH1	chr7:6098675-6098987	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:6120512-6121529	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr7:6098267-6098394	K562	blood:	n/a	n/a
24	BATF	chr7:6111038-6111374	GM12878	blood:	n/a	n/a
25	BATF	chr7:6096322-6096752	GM12878	blood:	n/a	n/a
26	BCL11A	chr7:6111069-6111315	GM12878	blood:	n/a	n/a
27	BCL11A	chr7:6110974-6111378	GM12878	blood:	n/a	n/a
28	BCL3	chr7:6120803-6121571	A549	lung:	n/a	chr7:6121008-6121021 chr7:6121030-6121043 chr7:6121191-6121200 chr7:6121034-6121047
29	BCL3	chr7:6116662-6117360	A549	lung:	n/a	n/a
30	BCL3	chr7:6116734-6117336	A549	lung:	n/a	n/a
31	BCLAF1	chr7:6120674-6121538	GM12878	blood:	n/a	chr7:6121008-6121021 chr7:6121030-6121043 chr7:6121191-6121200 chr7:6121034-6121047
32	BCLAF1	chr7:6110922-6111315	GM12878	blood:	n/a	n/a
33	BCLAF1	chr7:6098412-6098922	GM12878	blood:	n/a	n/a
34	BCLAF1	chr7:6110961-6111409	GM12878	blood:	n/a	n/a
35	BCLAF1	chr7:6120538-6121528	GM12878	blood:	n/a	chr7:6121008-6121021 chr7:6121030-6121043 chr7:6121191-6121200 chr7:6121034-6121047
36	BDP1	chr7:6116653-6117281	Hela-S3	cervix:	n/a	n/a
37	BHLHE40	chr7:6097359-6097741	GM12878	blood:	n/a	n/a
38	BHLHE40	chr7:6116766-6117236	HepG2	liver:	n/a	n/a
39	BHLHE40	chr7:6120590-6121533	GM12878	blood:	n/a	chr7:6121193-6121209 chr7:6121025-6121041 chr7:6121201-6121217
40	BHLHE40	chr7:6118237-6118515	K562	blood:	n/a	n/a
41	BHLHE40	chr7:6098545-6099014	GM12878	blood:	n/a	n/a
42	BHLHE40	chr7:6098477-6099115	K562	blood:	n/a	n/a
43	BHLHE40	chr7:6090476-6090889	HepG2	liver:	n/a	n/a
44	BHLHE40	chr7:6097015-6097661	K562	blood:	n/a	n/a
45	BHLHE40	chr7:6120733-6121530	HepG2	liver:	n/a	chr7:6121193-6121209 chr7:6121025-6121041 chr7:6121201-6121217
46	BHLHE40	chr7:6096278-6096599	K562	blood:	n/a	n/a
47	BHLHE40	chr7:6120579-6121551	K562	blood:	n/a	chr7:6121193-6121209 chr7:6121025-6121041 chr7:6121201-6121217
48	BRCA1	chr7:6120266-6121625	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr7:6120573-6121275	HepG2	liver:	n/a	n/a
50	BRCA1	chr7:6098471-6099028	HepG2	liver:	n/a	n/a

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6121416-6121466	PFSK-1	brain:	n/a
2	chr7:6098964-6099014	Caco-2	colon:	n/a
3	chr7:6098733-6098783	IMR90	lung:	fetal
4	chr7:6098862-6098912	K562	blood:	n/a
5	chr7:6121416-6121466	PFSK-1	brain:	n/a
6	chr7:6098964-6099014	Caco-2	colon:	n/a
7	chr7:6098733-6098783	IMR90	lung:	fetal
8	chr7:6098862-6098912	K562	blood:	n/a
9	chr7:6098330-6098380	AG09319	gingival:	n/a
10	chr7:6095195-6095245	HCM	heart:	n/a
11	chr7:6098733-6098783	HUVEC	blood vessel:	n/a
12	chr7:6098330-6098380	BJ	skin:	n/a
13	chr7:6120830-6120880	PFSK-1	brain:	n/a
14	chr7:6116868-6116918	H1-hESC	embryonic stem cell:	embryo
15	chr7:6099761-6099811	SK-N-SH	brain:	n/a
16	chr7:6099037-6099087	HepG2	liver:	n/a
17	chr7:6098908-6098958	HRE	kidney:	n/a
18	chr7:6120396-6120446	MCF10A-Er-Src	breast:	n/a
19	chr7:6098908-6098958	AG09309	skin:	n/a
20	chr7:6116868-6116918	MCF-7	breast:	n/a
21	chr7:6099250-6099300	HCPEpiC	choroid plexus:	n/a
22	chr7:6098330-6098380	HAEpiC	amniotic membrane:	n/a
23	chr7:6098788-6098838	NHDF-neo	bronchial:	n/a
24	chr7:6099037-6099087	CMK	blood:	n/a
25	chr7:6098908-6098958	ProgFib	skin:	n/a
26	chr7:6099044-6099094	SKMC	muscle:	n/a
27	chr7:6099037-6099087	SK-N-MC	brain:	n/a
28	chr7:6098788-6098838	AG09309	skin:	n/a
29	chr7:6099037-6099087	NH-A	brain:	n/a
30	chr7:6099044-6099094	PANC-1	pancreas:	n/a
31	chr7:6098733-6098783	NH-A	brain:	n/a
32	chr7:6099037-6099087	Hepatocyte	liver:	n/a
33	chr7:6098788-6098838	RPTEC	kidney:	n/a
34	chr7:6099233-6099283	U87	brain:	n/a
35	chr7:6095195-6095245	HRPEpiC	eye:	n/a
36	chr7:6098733-6098783	LNCaP	prostate:	n/a
37	chr7:6099761-6099811	BJ	skin:	n/a
38	chr7:6098908-6098958	H1-hESC	embryonic stem cell:	embryo
39	chr7:6099037-6099087	HEEpiC	esophagus:	n/a
40	chr7:6121397-6121447	A549	lung:	n/a
41	chr7:6098498-6098548	GM12891	blood:	n/a
42	chr7:6098498-6098548	ovcar-3	ovarian:	n/a
43	chr7:6116868-6116918	NHDF-neo	bronchial:	n/a
44	chr7:6116868-6116918	ovcar-3	ovarian:	n/a
45	chr7:6098981-6099031	K562	blood:	n/a
46	chr7:6121093-6121143	RPTEC	kidney:	n/a
47	chr7:6116868-6116918	LNCaP	prostate:	n/a
48	chr7:6121416-6121466	GM12891	blood:	n/a
49	chr7:6099044-6099094	CMK	blood:	n/a
50	chr7:6120830-6120880	ProgFib	skin:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:6098536..6099058-chr7:6120395..6121392,2	Hela-S3	cervix:
2	chr7:6064770..6067105-chr7:6097512..6099982,2	K562	blood:
3	chr7:6098884..6100413-chr7:6101242..6104060,2	MCF-7	breast:
4	chr7:6097184..6100296-chr7:6118283..6122245,9	MCF-7	breast:
5	chr7:6100114..6101811-chr7:6141887..6144361,2	K562	blood:
6	chr7:6090422..6101465-chr7:6116449..6124326,16	K562	blood:
7	chr7:6090663..6092659-chr7:6100648..6103479,2	MCF-7	breast:
8	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
9	chr2:120980545..120981540-chr7:6120772..6121410,2	Hela-S3	cervix:
10	chr7:6119521..6122293-chr7:6142698..6146719,8	K562	blood:
11	chr7:6110355..6112451-chr7:6141705..6143583,2	K562	blood:
12	chr7:6083755..6085434-chr7:6104765..6107098,2	K562	blood:
13	chr7:6097654..6100113-chr7:6110682..6112389,2	K562	blood:
14	chr7:6076544..6078828-chr7:6094405..6095983,2	K562	blood:
15	chr7:6100780..6103168-chr7:6105992..6108642,2	MCF-7	breast:
16	chr12:510695..511242-chr7:6098537..6099050,2	Hela-S3	cervix:
17	chr7:6097184..6100296-chr7:6118283..6122245,9	MCF-7	breast:
18	chr7:6096871..6098648-chr7:6106964..6108540,2	MCF-7	breast:
19	chr7:6048500..6051239-chr7:6096959..6099959,3	K562	blood:
20	chr17:80408304..80409044-chr7:6120953..6121818,2	Hela-S3	cervix:
21	chr7:6098536..6099058-chr7:6120395..6121392,2	Hela-S3	cervix:
22	chr7:5631641..5634228-chr7:6097200..6099216,2	K562	blood:
23	chr7:6096078..6098948-chr7:6116857..6121575,6	K562	blood:
24	chr7:6118710..6122632-chr7:6142742..6146844,10	K562	blood:
25	chr7:6096872..6099965-chr7:6142845..6147736,5	MCF-7	breast:
26	chr7:6097022..6100404-chr7:6102160..6106442,5	K562	blood:
27	chr7:6082731..6088079-chr7:6097012..6099885,4	MCF-7	breast:
28	chr7:6097568..6100190-chr7:6387069..6389785,3	MCF-7	breast:
29	chr1:149981726..149982724-chr7:6120850..6121372,2	Hela-S3	cervix:
30	chr7:6096078..6098948-chr7:6116857..6121575,6	K562	blood:
31	chr7:6098884..6100413-chr7:6101242..6104060,2	MCF-7	breast:
32	chr11:60673252..60674207-chr7:6120970..6121722,2	Hela-S3	cervix:
33	chr7:6093766..6095799-chr7:6101650..6104432,2	MCF-7	breast:
34	chr7:6095552..6098455-chr7:6100422..6102148,2	K562	blood:
35	chr4:17811924..17812783-chr7:6098318..6099072,2	Hela-S3	cervix:
36	chr1:171711352..171711868-chr7:6098468..6099126,2	Hela-S3	cervix:
37	chr7:6097654..6100113-chr7:6110682..6112779,3	K562	blood:
38	chr7:6090422..6101465-chr7:6116449..6124326,16	K562	blood:
39	chr7:6095667..6100309-chr7:6118978..6123029,12	MCF-7	breast:
40	chr7:6100780..6103168-chr7:6105992..6108642,2	MCF-7	breast:
41	chr7:6105265..6107663-chr7:6118420..6120384,2	K562	blood:
42	chr7:6090785..6094392-chr7:6095992..6098375,4	K562	blood:
43	chr7:6094663..6096735-chr7:6097687..6100252,2	MCF-7	breast:
44	chr7:6115370..6118556-chr7:6119697..6122201,4	MCF-7	breast:
45	chr7:6089956..6092329-chr7:6093518..6095916,2	K562	blood:
46	chr7:6062377..6067234-chr7:6094768..6099711,6	K562	blood:
47	chr7:6082731..6088079-chr7:6097012..6099885,4	MCF-7	breast:
48	chr7:6087739..6090277-chr7:6144238..6146769,2	K562	blood:
49	chr7:6095819..6096425-chr7:6145782..6146377,2	K562	blood:
50	chr7:6090663..6092659-chr7:6100648..6103479,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD61-1	chr7:6091302-6091413	NONHSAT118969
2	lnc-ANKRD61-1	chr7:6094947-6095057	NONHSAT118968
3	lnc-ANKRD61-1	chr7:6094947-6095057	NONHSAT118971
4	lnc-ANKRD61-1	chr7:6087828-6087955	NONHSAT118971
5	lnc-USP42-1	chr7:6120734-6120901	XLOC_005979
6	lnc-USP42-1	chr7:6121302-6121429	XLOC_005979
7	lnc-ANKRD61-1	chr7:6099186-6099209	NONHSAT118968
8	lnc-ANKRD61-1	chr7:6099186-6099242	NONHSAT118971
9	lnc-USP42-1	chr7:6120753-6120901	XLOC_005979
10	lnc-ANKRD61-1	chr7:6090586-6090829	NONHSAT118971
11	lnc-ANKRD61-1	chr7:6090586-6090829	NONHSAT118969
12	lnc-ANKRD61-1	chr7:6090586-6090829	NONHSAT118968
13	lnc-USP42-1	chr7:6120734-6120901	XLOC_005979

No data

Variant related genes	Relation type
EIF2AK1	TF binding region
RN7SL851P	TF binding region
ENSG00000264605	TF binding region
RNU6-218P	TF binding region
ENSG00000231704	TF binding region
EIF2AK1	CpG island
RN7SL851P	CpG island
ENSG00000264605	CpG island
RNU6-218P	CpG island
ENSG00000231704	CpG island
ENSG00000161091	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000122512	chromatin interactions
ENSG00000163113	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000231704	chromatin interactions
ENSG00000178927	chromatin interactions
ENSG00000252929	chromatin interactions
ENSG00000117533	chromatin interactions
ENSG00000106346	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000264605	chromatin interactions
ENSG00000064961	chromatin interactions
ENSG00000163257	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000226479	chromatin interactions
ENSG00000104412	chromatin interactions
ENSG00000086232	chromatin interactions
ENSG00000240718	chromatin interactions
ENSG00000207217	chromatin interactions
ENSG00000109805	chromatin interactions
ENSG00000188807	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000110107	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000178397	chromatin interactions
ENSG00000087087	chromatin interactions
TMEM101	miRNA target sites
IPPK	miRNA target sites
BCL2L11	miRNA target sites

Extended variants
information (count: 1525 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56000981	chr7:6087869-6087870	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56223935	chr7:6087935-6087936	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543793381	chr7:6087960-6087961	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs562188815	chr7:6087971-6087972	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs143069579	chr7:6087985-6087986	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs529692006	chr7:6087994-6087995	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs547889353	chr7:6088002-6088003	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs371208857	chr7:6088065-6088066	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs146431801	chr7:6088130-6088131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552767752	chr7:6088186-6088187	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553019702	chr7:6088197-6088198	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571043480	chr7:6088205-6088206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112304714	chr7:6088245-6088246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142135663	chr7:6088268-6088269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568468784	chr7:6088331-6088332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs523254	chr7:6088339-6088340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs553995018	chr7:6088344-6088345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs523276	chr7:6088349-6088350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs533732631	chr7:6088390-6088391	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs369971276	chr7:6088399-6088400	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs151171916	chr7:6088403-6088404	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs183651706	chr7:6088415-6088416	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530733730	chr7:6088417-6088418	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs3213665	chr7:6088420-6088421	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs201656248	chr7:6088422-6088423	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs147293151	chr7:6088451-6088452	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs55971369	chr7:6088453-6088454	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs55963745	chr7:6088472-6088473	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562102306	chr7:6088474-6088475	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141020651	chr7:6088530-6088531	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs146822034	chr7:6088532-6088533	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs525090	chr7:6088533-6088534	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs527418760	chr7:6088553-6088554	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs552486712	chr7:6088677-6088678	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs114820715	chr7:6088752-6088753	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs533727962	chr7:6088822-6088823	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs531997783	chr7:6088836-6088837	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs562321481	chr7:6088856-6088857	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs368154713	chr7:6088877-6088878	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs35392828	chr7:6088878-6088879	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs199892975	chr7:6088879-6088880	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs60916728	chr7:6088880-6088881	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs199529287	chr7:6088881-6088882	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs200553250	chr7:6088884-6088885	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs118073675	chr7:6088898-6088899	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs147948265	chr7:6088903-6088904	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs187459633	chr7:6088909-6088910	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs141895803	chr7:6088914-6088915	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs569821530	chr7:6088927-6088928	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs191901933	chr7:6088945-6088946	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	17426248	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1275 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6049400-6098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6050000-6097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6050400-6089400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:6050400-6095400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:6050400-6095600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:6050600-6091000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:6050800-6091000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:6050800-6095200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:6051000-6095200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:6051800-6089600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:6052200-6089400	Strong transcription	Fetal Stomach	stomach
12	chr7:6052600-6094600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:6053000-6095000	Strong transcription	Fetal Intestine Small	intestine
14	chr7:6054400-6095200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:6054600-6090200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:6054800-6089400	Strong transcription	Fetal Intestine Large	intestine
17	chr7:6055800-6089000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:6056000-6089600	Strong transcription	Liver	Liver
19	chr7:6056400-6095200	Strong transcription	Dnd41	blood
20	chr7:6056600-6095200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6056800-6089400	Strong transcription	Osteobl	bone
22	chr7:6056800-6090000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:6056800-6090600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:6056800-6094800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:6066400-6090000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr7:6066600-6089200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:6066600-6094600	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:6066800-6089400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:6066800-6091200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:6066800-6094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:6066800-6095200	Strong transcription	Fetal Thymus	thymus
32	chr7:6067000-6089400	Strong transcription	Adipose Nuclei	Adipose
33	chr7:6067000-6089400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr7:6067000-6089600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:6067000-6089800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:6067000-6094600	Strong transcription	Placenta	Placenta
37	chr7:6067200-6089600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:6067200-6090400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:6067400-6089600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:6067800-6095200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:6068000-6094400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr7:6069000-6089400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr7:6070800-6089400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr7:6071000-6089000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:6071000-6094600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:6071200-6089400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr7:6071200-6090600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:6071600-6097200	Weak transcription	Right Atrium	heart
49	chr7:6072000-6088800	Strong transcription	Fetal Brain Female	brain
50	chr7:6072200-6089000	Strong transcription	Brain Anterior Caudate	brain

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