Variant report

Variant	nsv518855
Chromosome Location	chr1:78416669-78456355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1448)
CpG islands
(count:1160)
Chromatin interactive
region (count:59)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1448 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:78444654-78445344	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:78443845-78444311	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:78445890-78446163	K562	blood:	n/a	n/a
4	ARID3A	chr1:78443803-78445407	K562	blood:	n/a	n/a
5	ATF1	chr1:78444445-78445383	K562	blood:	n/a	n/a
6	ATF2	chr1:78443469-78445627	GM12878	blood:	n/a	n/a
7	ATF2	chr1:78443765-78444408	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:78443709-78444335	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:78443553-78445512	GM12878	blood:	n/a	n/a
10	ATF2	chr1:78444532-78445515	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:78444524-78445448	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr1:78444593-78444875	K562	blood:	n/a	n/a
13	ATF3	chr1:78444629-78444881	K562	blood:	n/a	n/a
14	ATF3	chr1:78444742-78445307	A549	lung:	n/a	n/a
15	BACH1	chr1:78444437-78445311	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr1:78443782-78444228	GM12878	blood:	n/a	n/a
17	BATF	chr1:78443712-78444257	GM12878	blood:	n/a	n/a
18	BATF	chr1:78444934-78445322	GM12878	blood:	n/a	n/a
19	BATF	chr1:78454055-78454345	GM12878	blood:	n/a	chr1:78454205-78454216
20	BCL11A	chr1:78443847-78444222	GM12878	blood:	n/a	n/a
21	BCL11A	chr1:78443891-78444231	GM12878	blood:	n/a	n/a
22	BCL3	chr1:78444705-78445283	A549	lung:	n/a	n/a
23	BCL3	chr1:78444558-78445363	A549	lung:	n/a	n/a
24	BCLAF1	chr1:78444857-78445479	GM12878	blood:	n/a	n/a
25	BCLAF1	chr1:78443742-78444819	GM12878	blood:	n/a	n/a
26	BCLAF1	chr1:78443396-78445408	GM12878	blood:	n/a	n/a
27	BCLAF1	chr1:78444244-78444813	K562	blood:	n/a	n/a
28	BHLHE40	chr1:78446254-78446360	GM12878	blood:	n/a	n/a
29	BHLHE40	chr1:78443731-78446032	K562	blood:	n/a	n/a
30	BHLHE40	chr1:78444625-78445378	HepG2	liver:	n/a	n/a
31	BHLHE40	chr1:78443529-78445989	GM12878	blood:	n/a	n/a
32	BRCA1	chr1:78444453-78445394	H1-hESC	embryonic stem cell:	n/a	chr1:78444836-78444845
33	BRCA1	chr1:78443934-78445331	GM12878	blood:	n/a	chr1:78444836-78444845
34	BRCA1	chr1:78445881-78445917	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr1:78444003-78444138	HepG2	liver:	n/a	n/a
36	BRCA1	chr1:78444418-78445342	HepG2	liver:	n/a	chr1:78444836-78444845
37	BRCA1	chr1:78443735-78445506	Hela-S3	cervix:	n/a	chr1:78444836-78444845
38	CBX3	chr1:78444558-78445399	K562	blood:	n/a	n/a
39	CBX3	chr1:78444384-78445481	HCT-116	colon:	n/a	n/a
40	CCNT2	chr1:78444503-78445414	K562	blood:	n/a	n/a
41	CEBPB	chr1:78443835-78445410	GM12878	blood:	n/a	n/a
42	CEBPB	chr1:78452519-78452754	A549	lung:	n/a	chr1:78452597-78452608
43	CEBPB	chr1:78452464-78452762	H1-hESC	embryonic stem cell:	n/a	chr1:78452597-78452608
44	CEBPB	chr1:78452351-78452823	A549	lung:	n/a	chr1:78452597-78452608
45	CEBPB	chr1:78442329-78442668	K562	blood:	n/a	n/a
46	CEBPB	chr1:78443761-78445350	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr1:78452448-78452727	K562	blood:	n/a	chr1:78452597-78452608
48	CEBPB	chr1:78442360-78442597	HepG2	liver:	n/a	n/a
49	CEBPB	chr1:78444640-78445327	K562	blood:	n/a	n/a
50	CEBPB	chr1:78444641-78444972	HepG2	liver:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:78444087-78444137	HepG2	liver:	n/a
2	chr1:78444087-78444137	HepG2	liver:	n/a
3	chr1:78448620-78448670	GM12892	blood:	n/a
4	chr1:78445757-78445807	AG04449	skin:	fetal
5	chr1:78443901-78443951	HMEC	breast:	n/a
6	chr1:78444909-78444959	SKMC	muscle:	n/a
7	chr1:78445757-78445807	ProgFib	skin:	n/a
8	chr1:78444860-78444910	BJ	skin:	n/a
9	chr1:78443901-78443951	PrEC	prostate:	n/a
10	chr1:78444357-78444407	U87	brain:	n/a
11	chr1:78445280-78445330	AG09319	gingival:	n/a
12	chr1:78440671-78440721	HCT-116	colon:	n/a
13	chr1:78448620-78448670	HRPEpiC	eye:	n/a
14	chr1:78442554-78442604	BE2_C	brain:	n/a
15	chr1:78444964-78445014	SK-N-MC	brain:	n/a
16	chr1:78445165-78445215	HCT-116	colon:	n/a
17	chr1:78445757-78445807	NH-A	brain:	n/a
18	chr1:78440671-78440721	MCF-7	breast:	n/a
19	chr1:78444860-78444910	H1-hESC	embryonic stem cell:	embryo
20	chr1:78444964-78445014	GM12892	blood:	n/a
21	chr1:78440671-78440721	HCF	heart:	n/a
22	chr1:78445280-78445330	Caco-2	colon:	n/a
23	chr1:78442533-78442583	HepG2	liver:	n/a
24	chr1:78444712-78444762	T-47D	breast:	n/a
25	chr1:78444860-78444910	MCF-7	breast:	n/a
26	chr1:78444087-78444137	GM12891	blood:	n/a
27	chr1:78444964-78445014	ovcar-3	ovarian:	n/a
28	chr1:78445757-78445807	Caco-2	colon:	n/a
29	chr1:78452127-78452177	HUVEC	blood vessel:	n/a
30	chr1:78443901-78443951	PFSK-1	brain:	n/a
31	chr1:78448620-78448670	NB4	blood:	n/a
32	chr1:78443929-78443979	AG10803	skin:	n/a
33	chr1:78440671-78440721	HEEpiC	esophagus:	n/a
34	chr1:78448620-78448670	AG10803	skin:	n/a
35	chr1:78444909-78444959	ovcar-3	ovarian:	n/a
36	chr1:78444909-78444959	HCPEpiC	choroid plexus:	n/a
37	chr1:78445162-78445212	CMK	blood:	n/a
38	chr1:78442533-78442583	GM12878	blood:	n/a
39	chr1:78442533-78442583	IMR90	lung:	fetal
40	chr1:78442533-78442583	GM12892	blood:	n/a
41	chr1:78444909-78444959	Jurkat	blood:	n/a
42	chr1:78444860-78444910	CMK	blood:	n/a
43	chr1:78444553-78444603	MCF10A-Er-Src	breast:	n/a
44	chr1:78442533-78442583	Caco-2	colon:	n/a
45	chr1:78444909-78444959	PFSK-1	brain:	n/a
46	chr1:78443929-78443979	HIPEpiC	eye:	n/a
47	chr1:78444553-78444603	GM12891	blood:	n/a
48	chr1:78442533-78442583	HEEpiC	esophagus:	n/a
49	chr1:78444357-78444407	AoSMC	blood vessel:	n/a
50	chr1:78445165-78445215	SAEC	small airway:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:78444284..78444857-chr12:6602401..6603010,2	Hela-S3	cervix:
2	chr1:78454801..78460340-chr1:78465408..78471629,5	MCF-7	breast:
3	chr1:78444372..78445367-chr17:48943462..48944118,2	NB4	blood:
4	chr1:78223072..78225558-chr1:78443212..78444913,3	K562	blood:
5	chr1:78146715..78149884-chr1:78444203..78446027,3	MCF-7	breast:
6	chr1:78444323..78445294-chr3:150125728..150126525,2	Hela-S3	cervix:
7	chr1:78450337..78453054-chr1:78453349..78455992,3	MCF-7	breast:
8	chr1:78442485..78444153-chr8:102209563..102211525,2	MCF-7	breast:
9	chr1:78441985..78444907-chr1:78452418..78454837,2	MCF-7	breast:
10	chr1:78444687..78445239-chr6:30687625..30688493,2	Hela-S3	cervix:
11	chr1:78444432..78445064-chr15:72524130..72524851,2	Hela-S3	cervix:
12	chr1:78449418..78451643-chr1:78468794..78470733,2	MCF-7	breast:
13	chr1:78439421..78442293-chr1:78443487..78445415,3	MCF-7	breast:
14	chr1:78411683..78415390-chr1:78442833..78445980,4	MCF-7	breast:
15	chr1:78436988..78440391-chr1:78442144..78445660,4	MCF-7	breast:
16	chr1:78224281..78226178-chr1:78436079..78437908,2	K562	blood:
17	chr1:78447842..78450094-chr1:78543814..78546165,2	K562	blood:
18	chr1:78444381..78445068-chr10:89577628..89578293,2	HCT-116	colon:
19	chr1:78442841..78446190-chr1:78453465..78457811,8	MCF-7	breast:
20	chr1:78193577..78195378-chr1:78443583..78446391,2	K562	blood:
21	chr1:78435772..78437977-chr1:78438825..78441558,2	MCF-7	breast:
22	chr1:78451857..78454221-chr1:78456122..78458479,2	MCF-7	breast:
23	chr1:27648655..27649314-chr1:78444243..78445194,2	HCT-116	colon:
24	chr1:78444790..78445968-chr1:78469428..78470562,4	Hela-S3	cervix:
25	chr1:78444226..78444832-chr20:37554586..37555473,2	NB4	blood:
26	chr1:78428375..78429154-chr1:78579795..78580540,2	MCF-7	breast:
27	chr1:78443657..78444565-chr1:78470034..78470953,2	Hela-S3	cervix:
28	chr1:78430857..78433275-chr1:78433917..78436532,2	MCF-7	breast:
29	chr1:78416931..78420284-chr1:78442371..78445567,3	MCF-7	breast:
30	chr1:78444303..78445105-chr8:95835200..95836118,2	Hela-S3	cervix:
31	chr1:78441980..78446801-chr1:78467462..78471771,12	MCF-7	breast:
32	chr1:78441362..78443969-chr1:78545013..78547502,2	K562	blood:
33	chr1:78147609..78151437-chr1:78443386..78446443,6	K562	blood:
34	chr1:78444510..78445277-chr22:43411075..43411781,2	Hela-S3	cervix:
35	chr1:78165656..78168470-chr1:78443418..78445028,2	K562	blood:
36	chr1:78444768..78445409-chr17:40729345..40730332,2	NB4	blood:
37	chr1:78432055..78439376-chr1:78440995..78447364,11	MCF-7	breast:
38	chr1:78450337..78453054-chr1:78453349..78455992,3	MCF-7	breast:
39	chr1:78447431..78449969-chr1:78468449..78471656,4	MCF-7	breast:
40	chr1:78427480..78429581-chr1:78433506..78436047,2	MCF-7	breast:
41	chr1:78442786..78443510-chr1:78579652..78580579,4	MCF-7	breast:
42	chr1:78451857..78454221-chr1:78456122..78458479,2	MCF-7	breast:
43	chr1:78441900..78447727-chr1:78466477..78473207,15	MCF-7	breast:
44	chr1:78444284..78445055-chr7:73497660..73498624,2	Hela-S3	cervix:
45	chr1:78427480..78429581-chr1:78433506..78436047,2	MCF-7	breast:
46	chr1:78428722..78431621-chr1:78443319..78444830,2	MCF-7	breast:
47	chr1:78444767..78445267-chr9:91925847..91926447,2	Hela-S3	cervix:
48	chr1:78434019..78436134-chr1:78467540..78469438,2	MCF-7	breast:
49	chr1:78444248..78445167-chr6:27860541..27861272,2	Hela-S3	cervix:
50	chr1:78430857..78433275-chr1:78433917..78436532,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB4-1	chr1:78444779-78456066	NONHSAT004062

No data

Variant related genes	Relation type
DNAJB4	TF binding region
GIPC2	TF binding region
FUBP1	TF binding region
DNAJB4	CpG island
GIPC2	CpG island
FUBP1	CpG island
ENSG00000170540	chromatin interactions
ENSG00000132793	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000101447	chromatin interactions
ENSG00000223820	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000138138	chromatin interactions
ENSG00000077254	chromatin interactions
ENSG00000010292	chromatin interactions
ENSG00000106683	chromatin interactions
ENSG00000123975	chromatin interactions
ENSG00000186501	chromatin interactions
ENSG00000162613	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000036549	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000164941	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000196230	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000131470	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000111639	chromatin interactions
ENSG00000137960	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000100266	chromatin interactions
ENSG00000116604	chromatin interactions

Extended variants
information (count: 1601 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1601 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3767027	chr1:78416669-78416670	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528001091	chr1:78416688-78416689	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs143719763	chr1:78416713-78416714	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527701002	chr1:78416773-78416774	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552874773	chr1:78416776-78416777	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571059842	chr1:78416787-78416788	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs118156923	chr1:78416808-78416809	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556518580	chr1:78416862-78416863	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs74942344	chr1:78416945-78416946	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs374500343	chr1:78416995-78416996	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs571377112	chr1:78417009-78417010	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs144191509	chr1:78417053-78417054	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs181234994	chr1:78417124-78417125	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs148187428	chr1:78417140-78417141	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs545399641	chr1:78417265-78417266	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs375139443	chr1:78417293-78417294	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs78981259	chr1:78417365-78417366	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs113831660	chr1:78417366-78417367	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs186513081	chr1:78417403-78417404	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs533726052	chr1:78417404-78417405	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs543600415	chr1:78417495-78417496	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs561762866	chr1:78417555-78417556	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs369936242	chr1:78417621-78417622	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs34929681	chr1:78417722-78417723	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs530203686	chr1:78417780-78417781	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs35951374	chr1:78417794-78417795	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs111569444	chr1:78417873-78417874	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs11806006	chr1:78417891-78417892	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560588562	chr1:78417915-78417916	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs190232912	chr1:78417941-78417942	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs199942976	chr1:78417946-78417947	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561489678	chr1:78417950-78417951	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs564789772	chr1:78417959-78417960	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs570820196	chr1:78417992-78417993	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs35003004	chr1:78418003-78418004	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs531955655	chr1:78418051-78418052	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs200503134	chr1:78418067-78418068	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs376654628	chr1:78418070-78418071	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs377027346	chr1:78418100-78418101	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368881577	chr1:78418229-78418230	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369569094	chr1:78418230-78418231	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs550325092	chr1:78418232-78418233	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs568593137	chr1:78418256-78418257	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs77119495	chr1:78418268-78418269	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs561158291	chr1:78418289-78418290	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs536524248	chr1:78418359-78418360	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs11805735	chr1:78418487-78418488	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565449251	chr1:78418582-78418583	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs539039997	chr1:78418589-78418590	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs557515370	chr1:78418593-78418594	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1794 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78372800-78418600	Weak transcription	Pancreas	Pancrea
2	chr1:78383600-78418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:78388600-78416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:78392200-78420400	Strong transcription	HSMM	muscle
5	chr1:78393000-78418600	Weak transcription	Lung	lung
6	chr1:78393200-78417400	Weak transcription	Small Intestine	intestine
7	chr1:78393400-78418000	Weak transcription	Stomach Mucosa	stomach
8	chr1:78396800-78419600	Weak transcription	Ovary	ovary
9	chr1:78397800-78418600	Weak transcription	Spleen	Spleen
10	chr1:78398600-78418400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:78400400-78417200	Weak transcription	Gastric	stomach
12	chr1:78403000-78418800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:78405000-78418600	Weak transcription	Aorta	Aorta
14	chr1:78405200-78417800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:78405800-78432200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:78405800-78442200	Strong transcription	Fetal Thymus	thymus
17	chr1:78406000-78420200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:78406000-78426600	Weak transcription	Fetal Heart	heart
19	chr1:78406000-78436200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:78406600-78436200	Strong transcription	Liver	Liver
21	chr1:78406600-78440600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:78406800-78436400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:78407000-78434400	Strong transcription	Dnd41	blood
24	chr1:78407000-78437200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:78407400-78427600	Strong transcription	Fetal Intestine Large	intestine
26	chr1:78407400-78432800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:78407400-78436600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:78407400-78437600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:78407400-78437800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:78407600-78417000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:78407600-78435400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:78407600-78435600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:78407600-78437200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:78407800-78420400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:78407800-78435400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:78407800-78436800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:78407800-78437200	Strong transcription	Placenta	Placenta
38	chr1:78408000-78437600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:78408200-78434200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:78408400-78436400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:78408400-78439600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:78408600-78417800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:78408600-78437000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:78409200-78418600	Weak transcription	Right Ventricle	heart
45	chr1:78409400-78417000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:78409600-78432000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:78409600-78432200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:78409600-78437200	Strong transcription	Hela-S3	cervix
49	chr1:78410000-78433800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:78410600-78427400	Strong transcription	HepG2	liver

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