Variant report

Variant	rs56208304
Chromosome Location	chr4:8184543-8184544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
2	chr17:58130754..58132699-chr4:8184311..8186643,2	MCF-7	breast:
3	chr4:8012081..8014539-chr4:8181803..8184689,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11933526	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1281110	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28570403	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55909383	1.00[ASN][1000 genomes]
rs753386	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	esv3357282	chr4:8180352-8184850	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
2	chr4:8178600-8185000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:8179400-8189800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:8181600-8186000	Enhancers	Stomach Mucosa	stomach
5	chr4:8181800-8186400	Enhancers	Right Ventricle	heart
6	chr4:8182200-8185400	Enhancers	Fetal Heart	heart
7	chr4:8182200-8187800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:8182400-8185200	Enhancers	Gastric	stomach
9	chr4:8182400-8185600	Enhancers	Fetal Intestine Small	intestine
10	chr4:8182400-8189800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:8182600-8185200	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:8182800-8185200	Enhancers	Pancreas	Pancrea
13	chr4:8182800-8185600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr4:8182800-8187000	Enhancers	Placenta	Placenta
15	chr4:8183000-8185800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:8183000-8187000	Enhancers	Fetal Muscle Leg	muscle
17	chr4:8183000-8187200	Weak transcription	Fetal Kidney	kidney
18	chr4:8183200-8185200	Enhancers	Right Atrium	heart
19	chr4:8183200-8185400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr4:8183200-8185600	Enhancers	Lung	lung
21	chr4:8183200-8186400	Enhancers	Left Ventricle	heart
22	chr4:8183200-8186600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:8183400-8184600	Enhancers	A549	lung
24	chr4:8183400-8185000	Enhancers	Colonic Mucosa	Colon
25	chr4:8183400-8185200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:8183400-8185200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr4:8183400-8185200	Bivalent Enhancer	HepG2	liver
28	chr4:8183400-8186000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:8183400-8186200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:8183400-8186200	Flanking Active TSS	Hela-S3	cervix
31	chr4:8183400-8188000	Enhancers	HMEC	breast
32	chr4:8183600-8184800	Enhancers	Fetal Stomach	stomach
33	chr4:8183600-8185400	Enhancers	HSMM	muscle
34	chr4:8183600-8186400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:8183600-8186800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:8183600-8188200	Enhancers	Adipose Nuclei	Adipose
37	chr4:8183800-8184600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:8183800-8185200	Enhancers	HSMMtube	muscle
39	chr4:8183800-8185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:8183800-8186000	Enhancers	NHLF	lung
41	chr4:8183800-8188200	Enhancers	NHEK	skin
42	chr4:8184000-8184800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:8184000-8185200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:8184000-8185200	Flanking Active TSS	Esophagus	oesophagus
45	chr4:8184000-8185400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:8184200-8184600	Flanking Active TSS	Spleen	Spleen
47	chr4:8184200-8184800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:8184200-8185200	Enhancers	Fetal Intestine Large	intestine
49	chr4:8184200-8186000	Enhancers	HUVEC	blood vessel
50	chr4:8184200-8187200	Enhancers	Muscle Satellite Cultured Cells	--

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