Variant report

Variant	rs2167595
Chromosome Location	chr15:45018898-45018899
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	MAX	chr15:45018686-45019363	A549	lung:	n/a	n/a
2	HEY1	chr15:45018740-45019064	K562	blood:	n/a	n/a
3	JUND	chr15:45018642-45019434	SK-N-SH	brain:	n/a	chr15:45019016-45019027 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45019017-45019026
4	FOSL1	chr15:45018796-45019245	K562	blood:	n/a	chr15:45019016-45019027 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45019017-45019026
5	MAFK	chr15:45018760-45019497	K562	blood:	n/a	chr15:45019185-45019200
6	ZMIZ1	chr15:45018793-45019926	K562	blood:	n/a	n/a
7	STAT3	chr15:45018821-45019929	MCF10A-Er-Src	breast:	n/a	n/a
8	RCOR1	chr15:45018765-45019099	K562	blood:	n/a	n/a
9	MTA3	chr15:45018115-45020373	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:45018660-45019953	GM10847	blood:	n/a	n/a
11	POLR2A	chr15:45018704-45020355	K562	blood:	n/a	n/a
12	BCLAF1	chr15:45018369-45019939	GM12878	blood:	n/a	chr15:45019779-45019788
13	EP300	chr15:45018813-45019487	Hela-S3	cervix:	n/a	chr15:45019017-45019026
14	ARID3A	chr15:45018770-45019696	K562	blood:	n/a	n/a
15	SIN3AK20	chr15:45018776-45019719	HCT-116	colon:	n/a	n/a
16	PML	chr15:45018771-45019876	K562	blood:	n/a	n/a
17	ZNF384	chr15:45018452-45020444	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:45018711-45019760	HCT-116	colon:	n/a	n/a
19	RAD21	chr15:45018740-45019019	K562	blood:	n/a	n/a
20	POLR2A	chr15:45018587-45019707	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr15:45018685-45019873	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr15:45018840-45018990	HRPEpiC	eye:	n/a	n/a
23	POLR2A	chr15:45018208-45022301	GM12892	blood:	n/a	n/a
24	TAF1	chr15:45018748-45019104	K562	blood:	n/a	n/a
25	JUND	chr15:45018787-45019232	A549	lung:	n/a	chr15:45019016-45019027 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45019017-45019026
26	MYC	chr15:45018736-45019518	K562	blood:	n/a	n/a
27	POLR2A	chr15:45017478-45022298	GM12892	blood:	n/a	n/a
28	CTCF	chr15:45018840-45018990	HMF	breast:	n/a	n/a
29	POU2F2	chr15:45018673-45019722	GM12878	blood:	n/a	n/a
30	CEBPB	chr15:45018458-45019370	Hela-S3	cervix:	n/a	n/a
31	STAT3	chr15:45018799-45020021	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr15:45018887-45018974	GM19239	blood:	n/a	n/a
33	CTCF	chr15:45018860-45019010	GM12873	blood:	n/a	n/a
34	MTA3	chr15:45018319-45020007	GM12878	blood:	n/a	n/a
35	MAFK	chr15:45018740-45019379	IMR90	lung:	n/a	chr15:45019185-45019200
36	MAX	chr15:45018897-45019121	K562	blood:	n/a	n/a
37	CEBPB	chr15:45018456-45019126	K562	blood:	n/a	n/a
38	TCF12	chr15:45018754-45019122	GM12878	blood:	n/a	n/a
39	ZC3H11A	chr15:45018756-45019531	K562	blood:	n/a	n/a
40	BCLAF1	chr15:45018720-45019699	K562	blood:	n/a	n/a
41	CTCF	chr15:45018820-45018970	HL-60	blood:	n/a	n/a
42	FOS	chr15:45018427-45019939	MCF10A-Er-Src	breast:	n/a	chr15:45019778-45019788 chr15:45019016-45019027 chr15:45019779-45019787 chr15:45019777-45019789 chr15:45019780-45019791 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45019017-45019026
43	HEY1	chr15:45018804-45019074	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr15:45018696-45019146	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr15:45018777-45019780	K562	blood:	n/a	n/a
46	FOS	chr15:45018842-45019936	MCF10A-Er-Src	breast:	n/a	chr15:45019778-45019788 chr15:45019016-45019027 chr15:45019779-45019787 chr15:45019777-45019789 chr15:45019780-45019791 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45019017-45019026
47	FOSL2	chr15:45018749-45019280	SK-N-SH	brain:	n/a	chr15:45019016-45019027 chr15:45019019-45019026 chr15:45019015-45019026 chr15:45019017-45019026
48	MAZ	chr15:45018794-45019520	Hela-S3	cervix:	n/a	n/a
49	KAP1	chr15:45018665-45019587	U2OS	brain:	n/a	n/a
50	POLR2A	chr15:45016436-45022852	GM12892	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	chr15:45018857..45019382-chr9:131940012..131940827,2	Hela-S3	cervix:
4	chr15:44875120..44878019-chr15:45017831..45020827,2	K562	blood:
5	chr15:44872601..44874196-chr15:45017482..45020327,2	K562	blood:
6	chr15:45007779..45009819-chr15:45018036..45020681,2	MCF-7	breast:
7	chr15:44829305..44830932-chr15:45017606..45019310,2	K562	blood:
8	chr15:45017018..45019763-chr15:45071670..45073544,3	K562	blood:
9	chr15:44952092..44957540-chr15:45017481..45022918,18	K562	blood:
10	chr10:103577767..103578618-chr15:45018317..45019222,2	Hela-S3	cervix:
11	chr15:44953895..44957741-chr15:45015371..45022655,19	K562	blood:
12	chr1:160312787..160313417-chr15:45018852..45019817,2	Hela-S3	cervix:
13	chr15:45018840..45019519-chr19:1260289..1260836,2	Hela-S3	cervix:
14	chr15:44988903..44990685-chr15:45017956..45020039,2	K562	blood:
15	chr15:45000863..45005844-chr15:45018710..45023352,9	MCF-7	breast:
16	chr15:45018839..45019555-chr4:140527708..140528430,2	Hela-S3	cervix:
17	chr11:65626705..65627544-chr15:45018868..45019519,2	Hela-S3	cervix:
18	chr15:45018290..45020903-chr15:45076318..45078549,2	K562	blood:
19	chr15:44958863..44960885-chr15:45018628..45021313,3	K562	blood:
20	chr15:45018082..45020935-chr15:45038655..45041399,2	K562	blood:
21	chr15:44955531..44956428-chr15:45018462..45019007,2	MCF-7	breast:

Variant related genes	Relation type
TRIM69	TF binding region
ENSG00000206957	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000266598	Chromatin interaction
ENSG00000122218	Chromatin interaction
ENSG00000104131	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000162736	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000145391	Chromatin interaction
ENSG00000166710	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10163110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444818	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1137516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11634059	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11634063	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11639157	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12912870	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1630168	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1669833	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1690313	0.82[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16974543	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1720723	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1720724	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1869125	0.83[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1901530	0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1901538	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1993152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1993153	0.99[ASN][1000 genomes]
rs2084835	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2167594	0.84[YRI][hapmap]
rs2254602	0.84[YRI][hapmap]
rs2444005	0.84[YRI][hapmap]
rs2468067	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2960206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3100140	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3100141	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3110677	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4923990	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923991	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62024991	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62025968	0.87[EUR][1000 genomes]
rs62025969	0.90[EUR][1000 genomes]
rs6416439	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416440	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493112	0.99[ASN][1000 genomes]
rs6493114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493116	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493124	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493126	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493127	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6493128	0.87[EUR][1000 genomes]
rs7151	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165535	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7168090	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]
rs7172357	0.87[EUR][1000 genomes]
rs7172376	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7496437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7496559	0.93[EUR][1000 genomes]
rs7497862	0.83[ASN][1000 genomes]
rs8035787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036223	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038532	0.90[EUR][1000 genomes]
rs935885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935889	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[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	chr15:45009400-45020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:45009400-45020600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:45009400-45020600	Weak transcription	Pancreas	Pancrea
5	chr15:45009400-45020600	Weak transcription	Right Ventricle	heart
6	chr15:45009400-45020800	Weak transcription	Aorta	Aorta
7	chr15:45009600-45020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:45009600-45020800	Weak transcription	Fetal Brain Male	brain
9	chr15:45010200-45020600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:45010200-45020600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:45010200-45020600	Weak transcription	Fetal Kidney	kidney
12	chr15:45010600-45020200	Weak transcription	Psoas Muscle	Psoas
13	chr15:45010600-45020600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:45010600-45020600	Weak transcription	Brain Substantia Nigra	brain
15	chr15:45010800-45020600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:45010800-45020600	Weak transcription	Ovary	ovary
17	chr15:45011000-45019000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:45011000-45020600	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:45011000-45020600	Weak transcription	Fetal Stomach	stomach
20	chr15:45011200-45019800	Weak transcription	Brain Anterior Caudate	brain
21	chr15:45011200-45020000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:45011200-45020000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:45011400-45020600	Weak transcription	Fetal Lung	lung
24	chr15:45011800-45020800	Weak transcription	Gastric	stomach
25	chr15:45012000-45019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:45013200-45019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:45013200-45019800	Weak transcription	Spleen	Spleen
28	chr15:45015400-45021000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr15:45016000-45020600	Enhancers	Fetal Thymus	thymus
30	chr15:45016800-45021000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr15:45017000-45020400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr15:45017600-45019000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr15:45017600-45019200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:45017600-45020400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr15:45017600-45020400	Enhancers	Small Intestine	intestine
36	chr15:45017600-45020600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr15:45017800-45019400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr15:45018000-45019000	Active TSS	GM12878-XiMat	blood
39	chr15:45018000-45021000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:45018200-45019000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr15:45018200-45019000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr15:45018200-45019000	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr15:45018200-45019000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr15:45018200-45019000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:45018200-45019000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr15:45018200-45019200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:45018200-45020200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr15:45018200-45020600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr15:45018200-45020600	Enhancers	Liver	Liver
50	chr15:45018200-45020600	Enhancers	Stomach Mucosa	stomach

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