Variant report

Variant	rs13236366
Chromosome Location	chr7:4813012-4813013
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	POLR2A	chr7:4812859-4815918	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:4811048-4815494	K562	blood:	n/a	n/a
3	POLR2A	chr7:4812864-4813460	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4777828..4782067-chr7:4812094..4815733,5	K562	blood:

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

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11628	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11764272	0.80[ASN][1000 genomes]
rs11764275	0.80[ASN][1000 genomes]
rs11768079	0.80[ASN][1000 genomes]
rs11772411	0.80[ASN][1000 genomes]
rs12701943	0.80[ASN][1000 genomes]
rs13224156	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135096	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135099	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17135102	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135110	0.83[ASN][1000 genomes]
rs17135121	0.80[ASN][1000 genomes]
rs17135128	0.80[ASN][1000 genomes]
rs34217589	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35713835	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3750014	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3750015	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3750016	0.84[ASN][1000 genomes]
rs3750018	0.84[ASN][1000 genomes]
rs3750019	0.84[ASN][1000 genomes]
rs3801041	0.93[ASN][1000 genomes]
rs59174566	0.80[ASN][1000 genomes]
rs60972000	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6958952	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6975325	0.83[ASN][1000 genomes]
rs73671922	0.80[ASN][1000 genomes]
rs7801122	0.80[ASN][1000 genomes]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
2	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4788400-4813800	Weak transcription	Right Atrium	heart
4	chr7:4789600-4814400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:4794200-4814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:4796600-4814000	Weak transcription	Fetal Kidney	kidney
7	chr7:4798400-4814000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:4798600-4814000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:4800000-4813800	Weak transcription	Primary B cells from cord blood	blood
10	chr7:4800200-4813800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:4801000-4814200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:4801600-4814400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:4802600-4814200	Weak transcription	Psoas Muscle	Psoas
14	chr7:4803000-4813800	Weak transcription	NHDF-Ad	bronchial
15	chr7:4803000-4814000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:4803200-4813200	Weak transcription	K562	blood
17	chr7:4803200-4814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:4803200-4814200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:4803400-4814000	Weak transcription	Small Intestine	intestine
20	chr7:4803600-4814200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:4803600-4814200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:4803600-4814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:4803800-4813600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:4803800-4813800	Weak transcription	GM12878-XiMat	blood
25	chr7:4803800-4814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:4803800-4814200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:4804000-4814200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:4804200-4814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:4804400-4813800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:4804600-4813800	Weak transcription	Osteobl	bone
31	chr7:4804600-4814000	Weak transcription	Brain Substantia Nigra	brain
32	chr7:4804600-4814400	Weak transcription	Ovary	ovary
33	chr7:4804800-4813800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:4805000-4813800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:4805000-4814000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:4805600-4814000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:4805800-4814200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:4806000-4813600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:4806000-4813800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:4806000-4814200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:4806600-4814000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:4806800-4814200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:4807000-4813200	Weak transcription	A549	lung
44	chr7:4807000-4814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:4807200-4813400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:4807200-4813600	Weak transcription	HMEC	breast
47	chr7:4807200-4814000	Weak transcription	Pancreas	Pancrea
48	chr7:4807400-4813800	Weak transcription	Spleen	Spleen
49	chr7:4807400-4814000	Weak transcription	Primary T cells from cord blood	blood
50	chr7:4807400-4814400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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