Variant report

Variant	rs7175512
Chromosome Location	chr15:74832981-74832982
allele	G/T
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	TAF1	chr15:74832718-74833445	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr15:74832266-74834561	IMR90	lung:	n/a	n/a
3	TRIM28	chr15:74832860-74833467	K562	blood:	n/a	n/a
4	POLR2A	chr15:74832513-74833442	PFSK-1	brain:	n/a	n/a
5	TBP	chr15:74832778-74834476	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr15:74832941-74833813	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:74832439-74833453	K562	blood:	n/a	n/a
8	SIN3AK20	chr15:74832590-74833444	SK-N-SH	brain:	n/a	n/a
9	SIN3AK20	chr15:74832703-74834510	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:74832510-74833438	GM12892	blood:	n/a	n/a
11	TAF1	chr15:74832811-74833596	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr15:74832343-74834928	IMR90	lung:	n/a	chr15:74834347-74834356
13	MTA3	chr15:74832682-74833368	GM12878	blood:	n/a	n/a
14	MAX	chr15:74832927-74833602	ECC-1	luminal epithelium:	n/a	n/a
15	GABPA	chr15:74832700-74833807	MCF-7	breast:	n/a	chr15:74833790-74833799 chr15:74833788-74833797 chr15:74833433-74833442
16	CHD1	chr15:74832172-74833485	IMR90	lung:	n/a	chr15:74833431-74833441
17	TBP	chr15:74832684-74833479	Hela-S3	cervix:	n/a	n/a
18	POU2F2	chr15:74832953-74833439	GM12891	blood:	n/a	n/a
19	POLR2A	chr15:74832695-74833781	Raji	blood:	n/a	n/a
20	CCNT2	chr15:74832844-74833860	K562	blood:	n/a	chr15:74833433-74833442
21	POLR2A	chr15:74832551-74833404	GM12891	blood:	n/a	n/a
22	IRF1	chr15:74832600-74833722	K562	blood:	n/a	chr15:74833556-74833570 chr15:74833429-74833443
23	TBL1XR1	chr15:74832787-74833434	K562	blood:	n/a	n/a
24	FOXM1	chr15:74832871-74833654	GM12878	blood:	n/a	n/a
25	ATF1	chr15:74832607-74833545	K562	blood:	n/a	n/a
26	POLR2A	chr15:74832861-74833458	GM12878	blood:	n/a	n/a
27	TAF1	chr15:74832926-74833440	PFSK-1	brain:	n/a	n/a
28	ELF1	chr15:74832742-74833780	MCF-7	breast:	n/a	chr15:74833416-74833425 chr15:74833459-74833468
29	TCF12	chr15:74832326-74833917	ECC-1	luminal epithelium:	n/a	n/a
30	GABPA	chr15:74832902-74833598	A549	lung:	n/a	chr15:74833433-74833442
31	MXI1	chr15:74832585-74833814	HepG2	liver:	n/a	n/a
32	ELK4	chr15:74832763-74833805	Hela-S3	cervix:	n/a	chr15:74833296-74833307 chr15:74833545-74833554 chr15:74833546-74833554
33	POLR2A	chr15:74832487-74833752	K562	blood:	n/a	n/a
34	FOS	chr15:74832833-74833844	HUVEC	blood vessel:	n/a	chr15:74833649-74833663 chr15:74833434-74833443
35	POLR2A	chr15:74832475-74833967	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr15:74832749-74833879	K562	blood:	n/a	n/a
37	SIN3A	chr15:74832493-74834722	H1-hESC	embryonic stem cell:	n/a	chr15:74832959-74832967 chr15:74832960-74832969 chr15:74833905-74833914
38	MAX	chr15:74832934-74833844	ECC-1	luminal epithelium:	n/a	n/a
39	MYBL2	chr15:74832768-74833430	HepG2	liver:	n/a	n/a
40	TEAD4	chr15:74832387-74833777	K562	blood:	n/a	n/a
41	SIN3A	chr15:74832748-74834867	GM12878	blood:	n/a	chr15:74832959-74832967 chr15:74832960-74832969 chr15:74833905-74833914
42	TBP	chr15:74832599-74833475	HepG2	liver:	n/a	n/a
43	GTF2F1	chr15:74832610-74833449	Hela-S3	cervix:	n/a	n/a
44	PML	chr15:74832597-74833452	K562	blood:	n/a	n/a
45	POLR2A	chr15:74832353-74833952	HepG2	liver:	n/a	n/a
46	E2F4	chr15:74832649-74833819	MCF10A-Er-Src	breast:	n/a	chr15:74833433-74833442 chr15:74833702-74833714 chr15:74833788-74833797 chr15:74833269-74833281 chr15:74833268-74833279
47	GATA1	chr15:74832491-74833337	PBDE	blood:	n/a	n/a
48	GABPA	chr15:74832609-74833833	SK-N-SH	brain:	n/a	chr15:74833790-74833799 chr15:74833788-74833797 chr15:74833433-74833442
49	ZNF143	chr15:74832939-74833476	K562	blood:	n/a	n/a
50	IRF1	chr15:74832940-74834659	K562	blood:	n/a	chr15:74834194-74834208 chr15:74833556-74833570 chr15:74833429-74833443

No.	Distal block	Cell Line	Cell type
1	chr12:33049999..33050545-chr15:74832724..74833489,2	Hela-S3	cervix:
2	chr15:74832775..74833754-chr2:131113482..131113986,2	NB4	blood:
3	chr15:74749825..74755412-chr15:74831975..74836764,7	K562	blood:
4	chr15:74831297..74833278-chr15:74861136..74863998,2	K562	blood:
5	chr15:74831828..74838842-chr15:74904667..74909546,11	MCF-7	breast:
6	chr15:74831674..74835918-chr15:74904604..74909555,13	K562	blood:
7	chr15:74832829..74833694-chr19:10443838..10444658,2	NB4	blood:
8	chr15:74830417..74841177-chr15:74901572..74909407,24	K562	blood:
9	chr11:60673570..60674114-chr15:74832478..74833408,2	Hela-S3	cervix:
10	chr11:62432754..62433383-chr15:74832759..74833604,2	NB4	blood:
11	chr15:74831911..74834210-chr15:74881957..74884590,3	K562	blood:
12	chr15:74832872..74835682-chr15:74898201..74900978,2	K562	blood:
13	chr15:74831500..74835189-chr15:74905877..74910530,15	MCF-7	breast:
14	chr15:74832891..74833561-chrX:53449159..53449770,2	Hela-S3	cervix:
15	chr15:74751343..74754967-chr15:74831975..74835233,5	K562	blood:
16	chr15:74781188..74783962-chr15:74831156..74833818,2	K562	blood:
17	chr15:74752565..74755217-chr15:74831873..74834547,2	MCF-7	breast:

Variant related genes	Relation type
ARID3B	TF binding region
ENSG00000206597	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000247240	Chromatin interaction
ENSG00000072501	Chromatin interaction
ENSG00000161847	Chromatin interaction
ENSG00000158423	Chromatin interaction
ENSG00000260103	Chromatin interaction
ENSG00000179361	Chromatin interaction
ENSG00000261775	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000110107	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000212279	Chromatin interaction
ENSG00000072135	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1030888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10459601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072491	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11072499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs1128628	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs11857192	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11857341	0.83[EUR][1000 genomes]
rs12439054	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439113	0.80[AMR][1000 genomes]
rs12441794	0.82[EUR][1000 genomes]
rs1866114	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2099593	0.82[EUR][1000 genomes]
rs2415243	0.84[EUR][1000 genomes]
rs28854237	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2899826	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs4073149	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4548815	0.85[EUR][1000 genomes]
rs4646421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4887156	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56274514	0.85[EUR][1000 genomes]
rs56291837	0.82[AMR][1000 genomes]
rs56363130	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59665282	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6495104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs6495107	0.80[EUR][1000 genomes]
rs6495112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7161990	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs7497036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7497906	0.82[AMR][1000 genomes]
rs750608	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs8023786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8028893	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8040120	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs8040674	0.87[AMR][1000 genomes]
rs950323	0.81[AMR][1000 genomes]
rs9788672	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74831800-74833200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:74832000-74833000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr15:74832000-74833200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr15:74832000-74834200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74832000-74836200	Active TSS	GM12878-XiMat	blood
6	chr15:74832200-74833000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr15:74832200-74833000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:74832200-74833000	Flanking Active TSS	Fetal Stomach	stomach
9	chr15:74832200-74833000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:74832200-74833200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:74832200-74834200	Active TSS	A549	lung
12	chr15:74832200-74834200	Active TSS	K562	blood
13	chr15:74832200-74834600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:74832200-74834600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:74832200-74834600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr15:74832200-74834600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:74832200-74835000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:74832200-74835000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr15:74832200-74835000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:74832400-74833000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:74832400-74833000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr15:74832400-74833000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr15:74832400-74833000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr15:74832400-74833000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr15:74832400-74833000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr15:74832400-74833000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr15:74832400-74833000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr15:74832400-74833000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr15:74832400-74833000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:74832400-74833000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr15:74832400-74833000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:74832400-74833000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr15:74832400-74833000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr15:74832400-74833000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr15:74832400-74833000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr15:74832400-74833000	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr15:74832400-74833000	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr15:74832400-74833000	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr15:74832400-74833000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr15:74832400-74833000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr15:74832400-74833000	Flanking Active TSS	Fetal Brain Male	brain
42	chr15:74832400-74833000	Flanking Active TSS	Fetal Heart	heart
43	chr15:74832400-74833000	Flanking Active TSS	Fetal Lung	lung
44	chr15:74832400-74833000	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr15:74832400-74833000	Flanking Active TSS	Fetal Thymus	thymus
46	chr15:74832400-74833000	Flanking Active TSS	Left Ventricle	heart
47	chr15:74832400-74833000	Flanking Active TSS	Psoas Muscle	Psoas
48	chr15:74832400-74833000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr15:74832400-74833000	Flanking Active TSS	Thymus	Thymus
50	chr15:74832400-74833000	Flanking Active TSS	HSMMtube	muscle

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