Variant report

Variant	rs73305396
Chromosome Location	chr7:4832521-4832522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:4831790-4832984	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr7:4832104-4832882	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:4831694-4832965	A549	lung:	n/a	n/a
4	MAX	chr7:4832210-4832575	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr7:4832372-4832564	GM12891	blood:	n/a	n/a
6	CTCF	chr7:4832420-4832570	HAc	cerebellar:	n/a	n/a
7	POLR2A	chr7:4831603-4832936	HL-60	blood:	n/a	n/a
8	MXI1	chr7:4832224-4832705	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr7:4832184-4832641	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:4832000-4832926	PANC-1	pancreas:	n/a	n/a
11	ZNF143	chr7:4831705-4832523	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr7:4831339-4832587	SK-N-SH	brain:	n/a	n/a
13	CREB1	chr7:4831642-4832532	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:4831961-4832870	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr7:4832282-4832726	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:4831982-4832883	K562	blood:	n/a	n/a
17	CTCF	chr7:4832380-4832530	HCPEpiC	choroid plexus:	n/a	n/a
18	POLR2A	chr7:4831132-4832813	GM18951	blood:	n/a	n/a
19	CHD2	chr7:4832371-4832708	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr7:4832400-4832550	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr7:4832022-4833004	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr7:4832377-4832819	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:4831989-4833745	GM12891	blood:	n/a	n/a
24	POLR2A	chr7:4826758-4835101	K562	blood:	n/a	n/a
25	POLR2A	chr7:4829800-4832896	GM12878	blood:	n/a	n/a
26	MAX	chr7:4832249-4832536	H1-hESC	embryonic stem cell:	n/a	n/a
27	TBP	chr7:4831745-4832675	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3A	chr7:4831712-4832792	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:4832380-4832530	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr7:4832068-4832910	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:4832235-4832594	GM12892	blood:	n/a	n/a
32	CTCF	chr7:4832440-4832590	HA-sp	spinal cord:	n/a	n/a
33	MAX	chr7:4832088-4832945	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:4831334-4832955	GM18505	blood:	n/a	n/a
35	POLR2A	chr7:4831485-4832943	GM12891	blood:	n/a	n/a
36	POLR2A	chr7:4831950-4832851	GM12878	blood:	n/a	n/a
37	MYC	chr7:4832326-4832521	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:4832440-4832590	AG04449	skin:	n/a	n/a
39	POLR2A	chr7:4831594-4832883	GM19193	blood:	n/a	n/a
40	CTCF	chr7:4832396-4832608	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:4831975-4832778	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr7:4831922-4832887	GM12891	blood:	n/a	n/a
43	HMGN3	chr7:4831501-4832725	K562	blood:	n/a	n/a
44	POLR2A	chr7:4831996-4833716	GM12878	blood:	n/a	n/a
45	POLR2A	chr7:4831526-4832831	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr7:4832318-4832866	HL-60	blood:	n/a	n/a
47	POLR2A	chr7:4832397-4832901	HepG2	liver:	n/a	n/a
48	POLR2A	chr7:4832014-4833671	GM12892	blood:	n/a	n/a
49	POLR2A	chr7:4831348-4832876	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4815280..4818251-chr7:4830682..4833750,3	MCF-7	breast:
2	chr7:4823905..4827107-chr7:4829333..4833521,4	MCF-7	breast:
3	chr7:4821235..4827640-chr7:4827846..4833141,11	K562	blood:
4	chr7:4831917..4833699-chr7:4922173..4923727,2	K562	blood:
5	chr7:4830470..4833507-chr7:4836339..4839138,4	K562	blood:

No data

Variant related genes	Relation type
MIR4656	TF binding region
ENSG00000242802	Chromatin interaction
ENSG00000157927	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11976063	0.90[AFR][1000 genomes]
rs12155405	0.83[AFR][1000 genomes]
rs73305400	0.86[AFR][1000 genomes]
rs73307309	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784925	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv887383	chr7:4817460-4845701	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
16	esv1846003	chr7:4817952-4845248	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
17	nsv605977	chr7:4820581-4841349	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
18	nsv887384	chr7:4820581-4851897	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
19	nsv887385	chr7:4820581-4860835	Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
20	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
21	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
22	esv1836977	chr7:4823971-4845701	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
23	nsv887386	chr7:4823971-4852682	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
24	nsv887387	chr7:4823971-4860835	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
25	nsv887388	chr7:4823971-4880954	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
26	esv1814177	chr7:4825190-4842927	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
27	nsv605978	chr7:4828077-4854592	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
28	esv3407904	chr7:4831051-4833599	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
30	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4816200-4834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:4816600-4834800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:4816800-4834400	Weak transcription	K562	blood
4	chr7:4816800-4834800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:4820200-4832800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:4820200-4832800	Strong transcription	Dnd41	blood
7	chr7:4820400-4834400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:4820600-4832800	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr7:4821400-4834600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:4821800-4834200	Weak transcription	HSMM	muscle
11	chr7:4823800-4833000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:4826200-4843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:4826400-4832800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:4828800-4835800	Weak transcription	Fetal Lung	lung
15	chr7:4830400-4832800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:4830800-4832800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:4830800-4832800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:4831000-4832800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:4831000-4832800	Genic enhancers	Placenta	Placenta
20	chr7:4831000-4832800	Strong transcription	A549	lung
21	chr7:4831400-4832600	Active TSS	Brain Angular Gyrus	brain
22	chr7:4831400-4834400	Weak transcription	HSMMtube	muscle
23	chr7:4831600-4832600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:4831600-4832600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr7:4831600-4832800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:4831600-4832800	Enhancers	Fetal Brain Male	brain
27	chr7:4831600-4832800	Enhancers	Stomach Mucosa	stomach
28	chr7:4831600-4832800	Enhancers	HUVEC	blood vessel
29	chr7:4831600-4833000	Enhancers	Fetal Heart	heart
30	chr7:4831600-4833000	Genic enhancers	Lung	lung
31	chr7:4831600-4833400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:4831600-4834000	Weak transcription	Osteobl	bone
33	chr7:4831600-4834400	Weak transcription	GM12878-XiMat	blood
34	chr7:4831800-4832600	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr7:4831800-4832600	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr7:4831800-4832600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:4831800-4832600	Enhancers	NHDF-Ad	bronchial
38	chr7:4831800-4832800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr7:4831800-4833400	Weak transcription	Aorta	Aorta
40	chr7:4831800-4834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:4831800-4834400	Weak transcription	Hela-S3	cervix
42	chr7:4831800-4834400	Weak transcription	NHEK	skin
43	chr7:4831800-4836200	Weak transcription	Liver	Liver
44	chr7:4831800-4839400	Weak transcription	HMEC	breast
45	chr7:4832000-4832600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr7:4832000-4832600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:4832000-4832600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:4832000-4832600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr7:4832000-4832600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr7:4832000-4832600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood

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