Variant report

Variant	rs7168090
Chromosome Location	chr15:45020112-45020113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr15:45018115-45020373	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:45018704-45020355	K562	blood:	n/a	n/a
3	ZNF384	chr15:45018452-45020444	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:45018208-45022301	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:45017478-45022298	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:45016436-45022852	GM12892	blood:	n/a	n/a
7	RELA	chr15:45018326-45020334	GM18505	blood:	n/a	chr15:45019844-45019853 chr15:45019844-45019853
8	POLR2A	chr15:45016397-45023417	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:45018274-45022504	GM18951	blood:	n/a	n/a
10	BACH1	chr15:45019680-45020128	K562	blood:	n/a	chr15:45019776-45019790
11	POLR2A	chr15:45018310-45022158	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:45018199-45023414	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:45017530-45022287	GM12891	blood:	n/a	n/a
14	STAT1	chr15:45019901-45022183	Hela-S3	cervix:	n/a	chr15:45021002-45021014 chr15:45021015-45021026 chr15:45021304-45021316 chr15:45021042-45021053
15	BCLAF1	chr15:45018334-45020198	GM12878	blood:	n/a	chr15:45019779-45019788 chr15:45020075-45020083
16	ZC3H11A	chr15:45019988-45020281	K562	blood:	n/a	n/a
17	POLR2A	chr15:45016457-45022594	GM12878	blood:	n/a	n/a
18	MXI1	chr15:45018485-45020261	GM12878	blood:	n/a	n/a
19	JUN	chr15:45020040-45021986	K562	blood:	n/a	n/a
20	ESRRA	chr15:45018311-45023010	GM12878	blood:	n/a	chr15:45021237-45021249 chr15:45021233-45021249 chr15:45021238-45021254 chr15:45021237-45021247
21	RCOR1	chr15:45018725-45022094	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:45018237-45022545	GM12892	blood:	n/a	n/a
23	POLR2A	chr15:45016464-45022895	GM18505	blood:	n/a	n/a
24	POU2F2	chr15:45018220-45020369	GM12878	blood:	n/a	n/a
25	RELA	chr15:45018435-45022209	GM12878	blood:	n/a	chr15:45019844-45019853 chr15:45019844-45019853
26	POLR2A	chr15:45017483-45022411	GM12892	blood:	n/a	n/a
27	POLR2A	chr15:45016449-45022997	GM12891	blood:	n/a	n/a
28	FOXM1	chr15:45018390-45020304	GM12878	blood:	n/a	n/a
29	WRNIP1	chr15:45019651-45022094	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:45018137-45020393	GM12891	blood:	n/a	n/a
31	RELA	chr15:45018421-45020324	GM10847	blood:	n/a	chr15:45019844-45019853 chr15:45019844-45019853
32	POLR2A	chr15:45018656-45020308	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr15:45017592-45022425	GM19193	blood:	n/a	n/a
34	POLR2A	chr15:45018294-45022406	GM18526	blood:	n/a	n/a
35	STAT3	chr15:45018416-45021926	GM12878	blood:	n/a	chr15:45021002-45021014 chr15:45021304-45021316 chr15:45021015-45021026 chr15:45021042-45021053
36	MAFK	chr15:45019757-45020133	K562	blood:	n/a	chr15:45019790-45019805
37	SMC3	chr15:45019764-45021539	GM12878	blood:	n/a	chr15:45021263-45021273
38	POLR2A	chr15:45018118-45020433	GM12891	blood:	n/a	n/a
39	BHLHE40	chr15:45018446-45022030	GM12878	blood:	n/a	n/a
40	NFIC	chr15:45018367-45022471	GM12878	blood:	n/a	chr15:45019702-45019718
41	POLR2A	chr15:45018660-45020178	K562	blood:	n/a	n/a
42	JUND	chr15:45018625-45022505	SK-N-SH	brain:	n/a	chr15:45019778-45019788 chr15:45019016-45019027 chr15:45019779-45019787 chr15:45019777-45019789 chr15:45019780-45019791 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45020814-45020825 chr15:45019017-45019026
43	RELA	chr15:45018368-45020251	GM12891	blood:	n/a	chr15:45019844-45019853 chr15:45019844-45019853
44	RFX5	chr15:45018330-45022664	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr15:45018211-45020394	GM12891	blood:	n/a	n/a
46	POLR2A	chr15:45019870-45020317	GM12878	blood:	n/a	n/a
47	CHD1	chr15:45018386-45022481	GM12878	blood:	n/a	n/a
48	RELA	chr15:45018320-45020331	GM19099	blood:	n/a	chr15:45019844-45019853 chr15:45019844-45019853
49	POLR2A	chr15:45018396-45020414	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:45018257-45022196	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44953583..44958025-chr15:45017998..45023674,11	MCF-7	breast:
2	chr15:45018689..45020763-chr17:63047768..63050748,2	K562	blood:
3	chr15:44875120..44878019-chr15:45017831..45020827,2	K562	blood:
4	chr15:44911239..44913616-chr15:45019732..45022719,2	MCF-7	breast:
5	chr15:44872601..44874196-chr15:45017482..45020327,2	K562	blood:
6	chr15:45007779..45009819-chr15:45018036..45020681,2	MCF-7	breast:
7	chr15:45019288..45020193-chr17:36981139..36981639,2	Hela-S3	cervix:
8	chr15:44952527..44956177-chr15:45018956..45022716,7	MCF-7	breast:
9	chr15:44952092..44957540-chr15:45017481..45022918,18	K562	blood:
10	chr15:44953895..44957741-chr15:45015371..45022655,19	K562	blood:
11	chr15:45002746..45004470-chr15:45018904..45021049,3	MCF-7	breast:
12	chr15:45019424..45020938-chr15:45037298..45039349,2	MCF-7	breast:
13	chr15:44958326..44960851-chr15:45019076..45021871,2	MCF-7	breast:
14	chr15:45000863..45005844-chr15:45018710..45023352,9	MCF-7	breast:
15	chr15:44867452..44871361-chr15:45019003..45021067,3	K562	blood:
16	chr15:45004559..45007244-chr15:45019568..45021417,3	MCF-7	breast:
17	chr15:45007310..45009648-chr15:45019472..45022079,3	MCF-7	breast:
18	chr15:45018290..45020903-chr15:45076318..45078549,2	K562	blood:
19	chr15:44958863..44960885-chr15:45018628..45021313,3	K562	blood:
20	chr15:45018994..45020696-chr15:45049633..45052562,3	K562	blood:
21	chr15:45018082..45020935-chr15:45038655..45041399,2	K562	blood:

Variant related genes	Relation type
TRIM69	TF binding region
ENSG00000166710	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000266598	Chromatin interaction
ENSG00000185880	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000108296	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10163110	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444818	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1060392	0.84[JPT][hapmap]
rs1137516	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11634059	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11634063	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11639157	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12912870	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1630168	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1669833	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1690313	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16974543	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1720723	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1720724	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1869125	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1901530	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1901538	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1993152	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1993153	0.99[ASN][1000 genomes]
rs2084835	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2167595	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290330	0.84[JPT][hapmap]
rs2444003	0.84[JPT][hapmap]
rs2444009	0.84[JPT][hapmap]
rs2468067	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470908	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2960206	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3100140	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3100141	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3110172	0.84[JPT][hapmap]
rs3110677	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759878	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759881	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923989	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4923990	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923991	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923993	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62024991	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62025968	0.94[EUR][1000 genomes]
rs62025969	0.91[EUR][1000 genomes]
rs6416439	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416440	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493110	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493111	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493112	0.99[ASN][1000 genomes]
rs6493114	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493116	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493118	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493119	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493124	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493126	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493127	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6493128	0.94[EUR][1000 genomes]
rs7151	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165535	0.90[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7172083	0.83[JPT][hapmap]
rs7172357	0.94[EUR][1000 genomes]
rs7172376	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7496437	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7496559	0.87[EUR][1000 genomes]
rs7497862	0.83[ASN][1000 genomes]
rs8035787	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036223	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038532	0.91[EUR][1000 genomes]
rs935885	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935888	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935889	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45004600-45020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:45009400-45020600	Weak transcription	Brain Angular Gyrus	brain
3	chr15:45009400-45020600	Weak transcription	Pancreas	Pancrea
4	chr15:45009400-45020600	Weak transcription	Right Ventricle	heart
5	chr15:45009400-45020800	Weak transcription	Aorta	Aorta
6	chr15:45009600-45020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:45009600-45020800	Weak transcription	Fetal Brain Male	brain
8	chr15:45010200-45020600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:45010200-45020600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:45010200-45020600	Weak transcription	Fetal Kidney	kidney
11	chr15:45010600-45020200	Weak transcription	Psoas Muscle	Psoas
12	chr15:45010600-45020600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:45010600-45020600	Weak transcription	Brain Substantia Nigra	brain
14	chr15:45010800-45020600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:45010800-45020600	Weak transcription	Ovary	ovary
16	chr15:45011000-45020600	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:45011000-45020600	Weak transcription	Fetal Stomach	stomach
18	chr15:45011400-45020600	Weak transcription	Fetal Lung	lung
19	chr15:45011800-45020800	Weak transcription	Gastric	stomach
20	chr15:45015400-45021000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr15:45016000-45020600	Enhancers	Fetal Thymus	thymus
22	chr15:45016800-45021000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr15:45017000-45020400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr15:45017600-45020400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr15:45017600-45020400	Enhancers	Small Intestine	intestine
26	chr15:45017600-45020600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr15:45018000-45021000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:45018200-45020200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr15:45018200-45020600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr15:45018200-45020600	Enhancers	Liver	Liver
31	chr15:45018200-45020600	Enhancers	Stomach Mucosa	stomach
32	chr15:45018200-45021000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr15:45018400-45020200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:45018400-45020400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:45018400-45020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:45018400-45020400	Enhancers	HMEC	breast
37	chr15:45018400-45020400	Enhancers	NH-A	brain
38	chr15:45018400-45020600	Enhancers	Fetal Intestine Large	intestine
39	chr15:45018400-45020600	Enhancers	Fetal Intestine Small	intestine
40	chr15:45018400-45020600	Enhancers	Fetal Muscle Leg	muscle
41	chr15:45018400-45020600	Enhancers	NHLF	lung
42	chr15:45018400-45020600	Enhancers	Osteobl	bone
43	chr15:45018400-45021000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:45018600-45020400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:45018600-45020600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:45018800-45020200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:45018800-45020800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:45019000-45020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:45019000-45020200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr15:45019000-45020200	Weak transcription	Esophagus	oesophagus

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