Variant report

Variant	rs17135102
Chromosome Location	chr7:4814613-4814614
allele	C/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	ELF1	chr7:4814533-4815564	K562	blood:	n/a	chr7:4815128-4815140 chr7:4815399-4815411
2	GABPA	chr7:4814293-4816012	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:4814286-4816058	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr7:4813203-4815923	GM12878	blood:	n/a	n/a
5	MXI1	chr7:4814557-4815876	HepG2	liver:	n/a	n/a
6	TBP	chr7:4814530-4815869	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:4814392-4814647	A549	lung:	n/a	n/a
8	POLR2A	chr7:4814368-4815467	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr7:4813728-4815927	K562	blood:	n/a	n/a
10	GABPA	chr7:4814568-4815575	A549	lung:	n/a	n/a
11	WRNIP1	chr7:4814195-4815402	GM12878	blood:	n/a	n/a
12	JUN	chr7:4814572-4815732	K562	blood:	n/a	n/a
13	TAF1	chr7:4814575-4814844	GM12892	blood:	n/a	n/a
14	MAX	chr7:4814369-4815578	HepG2	liver:	n/a	chr7:4815127-4815137 chr7:4814893-4814902 chr7:4815215-4815224
15	SIN3AK20	chr7:4814511-4815910	MCF-7	breast:	n/a	n/a
16	RCOR1	chr7:4814196-4815770	K562	blood:	n/a	n/a
17	ZC3H11A	chr7:4814278-4814717	K562	blood:	n/a	n/a
18	HEY1	chr7:4814399-4815785	K562	blood:	n/a	n/a
19	MAX	chr7:4814446-4815685	A549	lung:	n/a	chr7:4815127-4815137 chr7:4814893-4814902 chr7:4815215-4815224
20	UBTF	chr7:4814561-4815127	K562	blood:	n/a	n/a
21	TAF1	chr7:4814537-4815492	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr7:4813945-4815844	HepG2	liver:	n/a	n/a
23	NFIC	chr7:4814603-4815680	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:4814172-4815942	K562	blood:	n/a	n/a
25	POLR2A	chr7:4813054-4816074	GM12891	blood:	n/a	n/a
26	FOSL2	chr7:4814606-4815477	A549	lung:	n/a	n/a
27	CHD2	chr7:4814252-4815500	GM12878	blood:	n/a	chr7:4815146-4815156
28	TCF12	chr7:4814312-4815927	A549	lung:	n/a	n/a
29	POLR2A	chr7:4814338-4815735	H1-hESC	embryonic stem cell:	n/a	n/a
30	ELF1	chr7:4814507-4815759	SK-N-SH	brain:	n/a	chr7:4815128-4815140 chr7:4815399-4815411
31	BCL3	chr7:4814307-4815635	A549	lung:	n/a	chr7:4815399-4815412
32	SMARCC1	chr7:4814383-4816011	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr7:4814540-4815463	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:4813696-4815564	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr7:4812859-4815918	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:4813682-4815816	GM15510	blood:	n/a	n/a
37	POLR2A	chr7:4813742-4815973	GM12892	blood:	n/a	n/a
38	SIN3A	chr7:4814551-4815936	H1-hESC	embryonic stem cell:	n/a	n/a
39	PML	chr7:4814612-4815441	GM12878	blood:	n/a	n/a
40	HCFC1	chr7:4814525-4815793	K562	blood:	n/a	n/a
41	POLR2A	chr7:4813819-4815895	GM19099	blood:	n/a	n/a
42	POLR2A	chr7:4814420-4815759	K562	blood:	n/a	n/a
43	BHLHE40	chr7:4814541-4815959	GM12878	blood:	n/a	chr7:4815123-4815139 chr7:4815216-4815225 chr7:4815396-4815412 chr7:4815215-4815224 chr7:4815214-4815223 chr7:4815215-4815224 chr7:4815213-4815226
44	HEY1	chr7:4814410-4815448	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:4814163-4815915	GM12878	blood:	n/a	n/a
46	RELA	chr7:4814458-4815413	GM19193	blood:	n/a	n/a
47	POLR2A	chr7:4814135-4815876	GM12892	blood:	n/a	n/a
48	POLR2A	chr7:4814341-4815503	GM12891	blood:	n/a	n/a
49	RFX5	chr7:4814589-4815427	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:4813662-4816152	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:4721460..4723337-chr7:4813356..4816619,3	MCF-7	breast:
2	chr11:57435291..57435963-chr7:4814494..4815452,2	Hela-S3	cervix:
3	chr7:4813279..4817996-chr7:4818432..4827499,15	MCF-7	breast:
4	chr7:4777828..4782067-chr7:4812094..4815733,5	K562	blood:
5	chr7:4779354..4780876-chr7:4813776..4815968,2	K562	blood:
6	chr7:4720968..4723057-chr7:4814172..4816062,2	MCF-7	breast:
7	chr7:4796791..4799856-chr7:4814075..4815841,3	MCF-7	breast:

Variant related genes	Relation type
AP5Z1	TF binding region
ENSG00000164916	Chromatin interaction
ENSG00000242802	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10232558	1.00[CHB][hapmap]
rs10270796	1.00[CHB][hapmap]
rs11628	0.85[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11764272	0.83[ASN][1000 genomes]
rs11764275	0.83[ASN][1000 genomes]
rs11768079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11772411	0.83[ASN][1000 genomes]
rs12701943	0.83[ASN][1000 genomes]
rs13224156	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13236366	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135096	0.85[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135099	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135110	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17135113	1.00[MEX][hapmap]
rs17135115	0.81[CHD][hapmap]
rs17135121	0.83[ASN][1000 genomes]
rs17135128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17829969	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2011679	1.00[CHB][hapmap]
rs34217589	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35684868	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs35713835	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750012	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3750013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3750014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750016	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3750018	0.81[ASN][1000 genomes]
rs3750019	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801041	0.96[ASN][1000 genomes]
rs3816852	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs59174566	0.83[ASN][1000 genomes]
rs60972000	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6958952	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963791	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs6975325	0.93[ASN][1000 genomes]
rs73671922	0.83[ASN][1000 genomes]
rs749404	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7777890	0.85[CEU][hapmap]
rs7801122	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7803727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7810433	1.00[MEX][hapmap]
rs879217	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs907718	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 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	chr7:4813800-4814800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:4813800-4814800	Active TSS	Brain Germinal Matrix	brain
3	chr7:4813800-4817000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:4814000-4814800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:4814000-4814800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr7:4814000-4814800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr7:4814000-4814800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr7:4814000-4814800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:4814000-4814800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:4814000-4814800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr7:4814000-4814800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr7:4814000-4816200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:4814000-4816400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr7:4814200-4814800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:4814200-4814800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:4814200-4814800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr7:4814200-4814800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr7:4814200-4814800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr7:4814200-4814800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:4814200-4814800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr7:4814200-4814800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr7:4814200-4814800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:4814200-4814800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:4814200-4814800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr7:4814200-4814800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr7:4814200-4814800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:4814200-4814800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:4814200-4814800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr7:4814200-4814800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr7:4814200-4814800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:4814200-4814800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr7:4814200-4814800	Flanking Active TSS	Fetal Brain Male	brain
33	chr7:4814200-4814800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr7:4814200-4814800	Flanking Active TSS	Thymus	Thymus
35	chr7:4814200-4814800	Flanking Active TSS	Dnd41	blood
36	chr7:4814200-4814800	Flanking Active TSS	NH-A	brain
37	chr7:4814200-4815000	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr7:4814200-4815000	Flanking Active TSS	Fetal Thymus	thymus
39	chr7:4814200-4816000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:4814200-4816200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:4814200-4816200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:4814200-4816200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:4814200-4816200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:4814200-4816400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:4814400-4814800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr7:4814400-4814800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:4814400-4814800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:4814400-4814800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:4814400-4814800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:4814400-4815800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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