Variant report

Variant	rs530317142
Chromosome Location	chr7:4831198-4831199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:4831012-4832238	K562	blood:	n/a	n/a
2	POLR2A	chr7:4830380-4831229	K562	blood:	n/a	n/a
3	POLR2A	chr7:4831020-4831221	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:4830312-4831321	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:4830541-4831717	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:4829576-4831980	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:4831132-4832813	GM18951	blood:	n/a	n/a
8	CTCF	chr7:4831159-4831209	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:4826758-4835101	K562	blood:	n/a	n/a
10	POLR2A	chr7:4829800-4832896	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:4830677-4831334	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:4830368-4831345	GM19193	blood:	n/a	n/a
13	POLR2A	chr7:4830833-4831204	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:4830684-4831968	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:4830251-4831390	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 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	chr7:4830470..4833507-chr7:4836339..4839138,4	K562	blood:

No data

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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	nsv482101	chr7:4815264-4831397	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	8 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4816000-4832000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:4816200-4832000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:4816200-4834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:4816600-4834800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:4816800-4834400	Weak transcription	K562	blood
6	chr7:4816800-4834800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:4817200-4832000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:4818000-4831600	Weak transcription	Stomach Mucosa	stomach
9	chr7:4818400-4831600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:4819600-4831400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:4819600-4831400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:4819600-4831600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:4819600-4831600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:4819600-4831600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:4819600-4831600	Strong transcription	Fetal Intestine Small	intestine
16	chr7:4819600-4831600	Strong transcription	Fetal Stomach	stomach
17	chr7:4819800-4831600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:4819800-4831800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:4819800-4832000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:4820200-4831200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr7:4820200-4831400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:4820200-4831400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:4820200-4831400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:4820200-4831400	Strong transcription	Fetal Thymus	thymus
25	chr7:4820200-4831400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:4820200-4831600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:4820200-4831600	Strong transcription	Primary T cells from cord blood	blood
28	chr7:4820200-4831600	Strong transcription	Thymus	Thymus
29	chr7:4820200-4832800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:4820200-4832800	Strong transcription	Dnd41	blood
31	chr7:4820400-4831200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:4820400-4831200	Strong transcription	Left Ventricle	heart
33	chr7:4820400-4831400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:4820400-4831400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr7:4820400-4831600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:4820400-4831600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:4820400-4831600	Strong transcription	Brain Germinal Matrix	brain
38	chr7:4820400-4831600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:4820400-4831800	Strong transcription	Liver	Liver
40	chr7:4820400-4832000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:4820400-4832000	Strong transcription	NHLF	lung
42	chr7:4820400-4832200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr7:4820400-4832400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:4820400-4834400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:4820600-4831200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:4820600-4831200	Strong transcription	Ovary	ovary
47	chr7:4820600-4831400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:4820600-4831400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:4820600-4831400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr7:4820600-4831400	Strong transcription	Esophagus	oesophagus

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