Variant report

Variant	rs17030517
Chromosome Location	chr3:43664038-43664039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr3:43663665-43664194	GM12878	blood:	n/a	n/a
2	TAF1	chr3:43663632-43664043	K562	blood:	n/a	n/a
3	RELA	chr3:43663663-43664280	GM19099	blood:	n/a	n/a
4	REST	chr3:43662404-43664294	H1-neurons	neurons:	n/a	chr3:43663373-43663386 chr3:43663296-43663309 chr3:43663176-43663186
5	RCOR1	chr3:43663294-43664274	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:43663641-43664287	MCF10A-Er-Src	breast:	n/a	n/a
7	CHD2	chr3:43662939-43664148	GM12878	blood:	n/a	n/a
8	SP1	chr3:43663350-43664095	A549	lung:	n/a	chr3:43663759-43663770 chr3:43663759-43663771
9	MAX	chr3:43663593-43664136	ECC-1	luminal epithelium:	n/a	n/a
10	MYC	chr3:43663424-43664077	NB4	blood:	n/a	n/a
11	NFYA	chr3:43663447-43664079	Hela-S3	cervix:	n/a	n/a
12	ELF1	chr3:43664020-43664413	K562	blood:	n/a	chr3:43664204-43664217
13	POLR2A	chr3:43663591-43664107	SK-N-MC	brain:	n/a	n/a
14	ZNF143	chr3:43663259-43664269	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:43663205-43664095	HEK293	kidney:	n/a	n/a
16	MAZ	chr3:43662568-43664276	K562	blood:	n/a	n/a
17	TBP	chr3:43663665-43664094	HepG2	liver:	n/a	n/a
18	SMARCB1	chr3:43662916-43664256	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr3:43663625-43664148	PANC-1	pancreas:	n/a	n/a
20	TBP	chr3:43662809-43664298	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:43663096-43664239	HUVEC	blood vessel:	n/a	n/a
22	SP1	chr3:43663379-43664108	K562	blood:	n/a	chr3:43663759-43663770 chr3:43663759-43663771
23	POLR2A	chr3:43663635-43664204	GM12878	blood:	n/a	n/a
24	CBX3	chr3:43663501-43664369	K562	blood:	n/a	n/a
25	POLR2A	chr3:43663281-43664149	HepG2	liver:	n/a	n/a
26	PBX3	chr3:43663276-43664168	SK-N-SH	brain:	n/a	chr3:43663852-43663861
27	PML	chr3:43663575-43664156	K562	blood:	n/a	n/a
28	CREB1	chr3:43663105-43664113	HepG2	liver:	n/a	n/a
29	EP300	chr3:43663349-43664076	K562	blood:	n/a	n/a
30	MAX	chr3:43663265-43664158	K562	blood:	n/a	n/a
31	TRIM28	chr3:43663464-43664140	K562	blood:	n/a	n/a
32	POLR2A	chr3:43663247-43664379	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:43663648-43664274	MCF10A-Er-Src	breast:	n/a	n/a
34	TBP	chr3:43663673-43664174	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:43663696-43664039	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr3:43663133-43664205	MCF-7	breast:	n/a	n/a
37	POLR2A	chr3:43662973-43664041	H1-neurons	neurons:	n/a	n/a
38	E2F6	chr3:43663643-43664153	K562	blood:	n/a	n/a
39	POLR2A	chr3:43663169-43664165	ProgFib	skin:	n/a	n/a
40	HEY1	chr3:43663696-43664154	K562	blood:	n/a	n/a
41	POLR2A	chr3:43663117-43664251	GM19099	blood:	n/a	n/a
42	MAZ	chr3:43663173-43664095	Hela-S3	cervix:	n/a	n/a
43	WRNIP1	chr3:43663773-43664251	GM12878	blood:	n/a	n/a
44	POLR2A	chr3:43663215-43664372	K562	blood:	n/a	n/a
45	POLR2A	chr3:43663264-43664247	NB4	blood:	n/a	n/a
46	USF2	chr3:43663678-43664254	Hela-S3	cervix:	n/a	chr3:43663871-43663882
47	RUNX3	chr3:43663371-43664054	GM12878	blood:	n/a	n/a
48	NFYB	chr3:43663503-43664093	K562	blood:	n/a	n/a
49	CHD2	chr3:43663367-43664051	K562	blood:	n/a	n/a
50	USF1	chr3:43663600-43664104	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:43662288..43665115-chr3:43729956..43734747,4	MCF-7	breast:
2	chr3:43662766..43665162-chr3:45770483..45773103,2	K562	blood:
3	chr3:43659494..43665311-chr3:43727005..43736111,18	K562	blood:
4	chr3:43660817..43665304-chr3:43729750..43735886,13	K562	blood:
5	chr1:156426665..156427242-chr3:43663720..43664441,2	Hela-S3	cervix:
6	chr1:210547443..210547958-chr3:43663750..43664343,2	Hela-S3	cervix:
7	chr3:43661381..43665060-chr3:43731246..43733752,7	MCF-7	breast:
8	chr3:43663658..43668073-chr3:43669747..43674340,6	MCF-7	breast:

No data

Variant related genes	Relation type
ANO10	TF binding region
ENSG00000200972	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction
ENSG00000211456	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1021049	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1026887	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1038202	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10440111	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10461013	0.83[CEU][hapmap]
rs10461015	0.85[EUR][1000 genomes]
rs11130004	0.85[CEU][hapmap]
rs11130006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11706130	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11708097	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11710079	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11710107	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11710955	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11713382	0.82[ASN][1000 genomes]
rs11714015	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11716569	0.84[ASN][1000 genomes]
rs11717380	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11717449	0.82[ASN][1000 genomes]
rs11718482	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12152260	1.00[ASN][1000 genomes]
rs12374079	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12486736	0.80[EUR][1000 genomes]
rs12638282	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs13072613	0.87[ASN][1000 genomes]
rs13075520	0.87[ASN][1000 genomes]
rs13084604	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13086999	0.83[ASN][1000 genomes]
rs13092838	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13098202	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13319147	0.85[EUR][1000 genomes]
rs1351631	0.85[CEU][hapmap]
rs1384434	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1384435	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1471643	0.82[ASN][1000 genomes]
rs1471644	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs1482648	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1482649	0.83[ASN][1000 genomes]
rs1482650	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1482651	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482652	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1482653	1.00[ASN][1000 genomes]
rs1564434	0.85[CEU][hapmap]
rs17407745	0.82[ASN][1000 genomes]
rs17407870	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17407912	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17408925	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1975997	0.85[CEU][hapmap]
rs2010778	0.83[ASN][1000 genomes]
rs2054552	0.87[ASN][1000 genomes]
rs2054553	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2054554	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2086653	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2101064	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs2127725	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170219	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2199892	0.83[ASN][1000 genomes]
rs2219902	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2372433	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2372436	0.83[ASN][1000 genomes]
rs2372487	0.87[ASN][1000 genomes]
rs2888312	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs34279519	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34548104	0.82[ASN][1000 genomes]
rs34898315	0.82[ASN][1000 genomes]
rs34919938	0.84[ASN][1000 genomes]
rs35015014	0.82[ASN][1000 genomes]
rs35133889	0.83[ASN][1000 genomes]
rs35418463	0.83[ASN][1000 genomes]
rs3755602	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3772160	0.80[EUR][1000 genomes]
rs3772165	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3772167	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3821381	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3902207	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4234430	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4325902	0.87[ASN][1000 genomes]
rs4407383	0.82[CEU][hapmap]
rs4505672	0.85[CEU][hapmap]
rs4516582	0.93[ASN][1000 genomes]
rs4547674	0.81[CEU][hapmap]
rs4564953	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4682690	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4682691	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4682892	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4682894	0.84[EUR][1000 genomes]
rs4682897	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6441776	0.83[ASN][1000 genomes]
rs6441779	0.85[ASN][1000 genomes]
rs6441780	0.87[ASN][1000 genomes]
rs6441781	0.91[ASN][1000 genomes]
rs6441785	0.91[ASN][1000 genomes]
rs6441786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441787	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs66842319	0.83[ASN][1000 genomes]
rs67032102	0.82[ASN][1000 genomes]
rs6763321	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6767983	0.82[ASN][1000 genomes]
rs6768557	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6775337	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6779864	1.00[ASN][1000 genomes]
rs6782442	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6793877	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6797855	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6809134	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs737516	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs7616708	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7621271	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7630010	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7648082	0.89[ASN][1000 genomes]
rs7653738	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9311340	0.92[CEU][hapmap]
rs9311341	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9682975	0.82[ASN][1000 genomes]
rs9815196	0.85[CEU][hapmap]
rs9824990	0.82[CEU][hapmap]
rs9826275	0.81[EUR][1000 genomes]
rs9829067	0.80[EUR][1000 genomes]
rs9829081	0.87[ASN][1000 genomes]
rs9830697	0.86[CEU][hapmap]
rs9851894	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9863479	0.91[ASN][1000 genomes]
rs9878330	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43662000-43664200	Active TSS	HSMM	muscle
2	chr3:43662200-43664200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:43662200-43664200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:43662200-43664400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:43662200-43664400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:43662200-43664400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:43662200-43664400	Active TSS	Fetal Brain Female	brain
8	chr3:43662200-43664600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:43662400-43664200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr3:43662400-43664200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:43662400-43664200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:43662400-43664400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:43662400-43664400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr3:43662400-43664400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr3:43662400-43664400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr3:43662600-43664200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:43662600-43664200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:43662600-43664200	Active TSS	Aorta	Aorta
19	chr3:43662600-43664200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr3:43662600-43664200	Active TSS	Esophagus	oesophagus
21	chr3:43662600-43664200	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr3:43662600-43664200	Active TSS	Small Intestine	intestine
23	chr3:43662600-43664200	Active TSS	HepG2	liver
24	chr3:43662600-43664400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:43662600-43664400	Active TSS	Ovary	ovary
26	chr3:43662600-43664400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr3:43662600-43664400	Active TSS	Psoas Muscle	Psoas
28	chr3:43662800-43664200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:43662800-43664200	Active TSS	Brain Angular Gyrus	brain
30	chr3:43662800-43664200	Active TSS	Brain Hippocampus Middle	brain
31	chr3:43662800-43664200	Active TSS	Brain Substantia Nigra	brain
32	chr3:43662800-43664200	Active TSS	Colon Smooth Muscle	Colon
33	chr3:43662800-43664200	Active TSS	Lung	lung
34	chr3:43662800-43664200	Active TSS	Right Atrium	heart
35	chr3:43662800-43664400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr3:43662800-43664400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:43662800-43664400	Active TSS	Brain Anterior Caudate	brain
38	chr3:43662800-43664400	Active TSS	Left Ventricle	heart
39	chr3:43662800-43664600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr3:43663000-43664200	Active TSS	Brain Cingulate Gyrus	brain
41	chr3:43663000-43664200	Active TSS	Right Ventricle	heart
42	chr3:43663000-43664400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:43663600-43664400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:43663800-43664200	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr3:43663800-43664200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr3:43663800-43664200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:43663800-43664200	Flanking Active TSS	Liver	Liver
48	chr3:43663800-43664400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr3:43663800-43664400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr3:43663800-43664400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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