Variant report

Variant	rs563682991
Chromosome Location	chr4:2794208-2794209
allele	C/G
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	MAX	chr4:2794098-2795112	HCT-116	colon:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
2	E2F6	chr4:2794153-2794988	K562	blood:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
3	MAX	chr4:2794160-2794928	HCT-116	colon:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
4	E2F6	chr4:2794105-2794959	H1-hESC	embryonic stem cell:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
5	MAX	chr4:2794165-2794877	H1-hESC	embryonic stem cell:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
6	MAX	chr4:2794131-2794984	K562	blood:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
7	MAX	chr4:2793405-2794961	HepG2	liver:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2793915-2793924 chr4:2794622-2794629 chr4:2794621-2794630
8	MAX	chr4:2794200-2795046	A549	lung:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
9	POLR2A	chr4:2794139-2795103	HepG2	liver:	n/a	n/a
10	MAX	chr4:2792479-2794953	HepG2	liver:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2793915-2793924 chr4:2794622-2794629 chr4:2794621-2794630
11	MAX	chr4:2794038-2794911	H1-hESC	embryonic stem cell:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2794188-2794238	Caco-2	colon:	n/a
2	chr4:2794188-2794238	MCF-7	breast:	n/a
3	chr4:2794188-2794238	GM12878	blood:	n/a
4	chr4:2794188-2794238	AG04449	skin:	fetal
5	chr4:2794188-2794238	T-47D	breast:	n/a
6	chr4:2794188-2794238	NT2-D1	testis:	n/a
7	chr4:2794188-2794238	IMR90	lung:	fetal
8	chr4:2794188-2794238	HRE	kidney:	n/a
9	chr4:2794188-2794238	NH-A	brain:	n/a
10	chr4:2794188-2794238	HUVEC	blood vessel:	n/a
11	chr4:2794188-2794238	AG09319	gingival:	n/a
12	chr4:2794188-2794238	BE2_C	brain:	n/a
13	chr4:2794188-2794238	PANC-1	pancreas:	n/a
14	chr4:2794188-2794238	HCF	heart:	n/a
15	chr4:2794188-2794238	ovcar-3	ovarian:	n/a
16	chr4:2794188-2794238	HNPCEpiC	eye:	n/a
17	chr4:2794188-2794238	H1-hESC	embryonic stem cell:	embryo
18	chr4:2794188-2794238	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:2794188-2794238	HEK293	kidney:	embryo
20	chr4:2794188-2794238	HCT-116	colon:	n/a
21	chr4:2794188-2794238	SK-N-SH_RA	brain:	n/a
22	chr4:2794188-2794238	HRCEpiC	kidney:	n/a
23	chr4:2794188-2794238	U87	brain:	n/a
24	chr4:2794188-2794238	GM12892	blood:	n/a
25	chr4:2794188-2794238	NB4	blood:	n/a
26	chr4:2794188-2794238	PrEC	prostate:	n/a
27	chr4:2794188-2794238	Jurkat	blood:	n/a
28	chr4:2794188-2794238	HEEpiC	esophagus:	n/a
29	chr4:2794188-2794238	SKMC	muscle:	n/a
30	chr4:2794188-2794238	HRPEpiC	eye:	n/a
31	chr4:2794188-2794238	SK-N-MC	brain:	n/a
32	chr4:2794188-2794238	AG09309	skin:	n/a
33	chr4:2794188-2794238	GM06990	blood:	n/a
34	chr4:2794188-2794238	MCF10A-Er-Src	breast:	n/a
35	chr4:2794188-2794238	HIPEpiC	eye:	n/a
36	chr4:2794188-2794238	GM19239	blood:	n/a
37	chr4:2794188-2794238	HMEC	breast:	n/a
38	chr4:2794188-2794238	SAEC	small airway:	n/a
39	chr4:2794188-2794238	ProgFib	skin:	n/a
40	chr4:2794188-2794238	HepG2	liver:	n/a
41	chr4:2794188-2794238	Hepatocyte	liver:	n/a
42	chr4:2794188-2794238	NHDF-neo	bronchial:	n/a
43	chr4:2794188-2794238	RPTEC	kidney:	n/a
44	chr4:2794188-2794238	CMK	blood:	n/a
45	chr4:2794188-2794238	BJ	skin:	n/a
46	chr4:2794188-2794238	Hela-S3	cervix:	n/a
47	chr4:2794188-2794238	A549	lung:	n/a
48	chr4:2794188-2794238	K562	blood:	n/a
49	chr4:2794188-2794238	NHBE	bronchial:	n/a
50	chr4:2794188-2794238	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:2794178..2796870-chr4:2828744..2832985,4	MCF-7	breast:
2	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
3	chr17:56708745..56710384-chr4:2792772..2795707,2	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2747762..2749631-chr4:2792951..2795246,2	MCF-7	breast:
6	chr4:2793408..2795261-chr4:2937928..2940807,2	MCF-7	breast:
7	chr4:2793270..2794844-chr4:2830129..2831853,2	MCF-7	breast:
8	chr4:2793663..2796017-chr4:2810077..2811741,2	MCF-7	breast:
9	chr4:2755902..2759354-chr4:2793552..2797883,6	K562	blood:
10	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:
11	chr4:2757714..2759449-chr4:2793017..2796252,4	K562	blood:
12	chr4:2745843..2747557-chr4:2792852..2794917,2	MCF-7	breast:
13	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:
14	chr4:2747261..2749525-chr4:2793563..2796343,2	K562	blood:

Variant related genes	Relation type
SH3BP2	TF binding region
SH3BP2	CpG island
ENSG00000168884	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription 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	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv967941	chr4:2765555-2802771	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	esv3439511	chr4:2793779-2796327	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv3430511	chr4:2794104-2796177	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2786600-2794800	Enhancers	Primary B cells from cord blood	blood
2	chr4:2786800-2794800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:2786800-2794800	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:2787400-2794800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:2787800-2794400	Enhancers	Spleen	Spleen
6	chr4:2787800-2794800	Enhancers	Fetal Muscle Leg	muscle
7	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:2790000-2794400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:2790000-2794800	Weak transcription	Brain Substantia Nigra	brain
11	chr4:2790200-2795400	Weak transcription	Fetal Lung	lung
12	chr4:2790400-2794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:2790400-2794400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:2790400-2794600	Weak transcription	Thymus	Thymus
15	chr4:2790600-2794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:2790600-2795000	Weak transcription	HSMMtube	muscle
17	chr4:2790600-2795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:2790800-2794400	Weak transcription	Primary T cells from cord blood	blood
19	chr4:2790800-2794400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:2790800-2794400	Weak transcription	Brain Germinal Matrix	brain
21	chr4:2790800-2794800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:2790800-2794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:2790800-2794800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:2791000-2795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:2791400-2795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:2791600-2794400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:2791600-2795200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:2792000-2794600	Flanking Active TSS	HepG2	liver
29	chr4:2792000-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:2792200-2794400	Enhancers	Adipose Nuclei	Adipose
31	chr4:2792200-2794800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:2792200-2794800	Enhancers	Placenta	Placenta
33	chr4:2792800-2794800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr4:2793000-2794400	Enhancers	Duodenum Mucosa	Duodenum
35	chr4:2793000-2794400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:2793000-2794800	Enhancers	Fetal Intestine Small	intestine
37	chr4:2793200-2794400	Enhancers	Brain Hippocampus Middle	brain
38	chr4:2793200-2794800	Enhancers	Esophagus	oesophagus
39	chr4:2793200-2794800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:2793400-2794600	Enhancers	Right Ventricle	heart
41	chr4:2793400-2794800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr4:2793400-2794800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:2793400-2794800	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:2793400-2794800	Enhancers	Left Ventricle	heart
45	chr4:2793400-2794800	Enhancers	Pancreas	Pancrea
46	chr4:2793400-2795000	Enhancers	Stomach Mucosa	stomach
47	chr4:2793600-2794400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
48	chr4:2793600-2794400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr4:2793600-2794400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:2793600-2794400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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