Variant report

Variant	rs550747497
Chromosome Location	chr4:8159807-8159808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv878592	chr4:8105399-8163560	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	esv3357410	chr4:8159277-8161825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8157600-8160400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:8158600-8162000	Active TSS	Psoas Muscle	Psoas
3	chr4:8158800-8160000	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr4:8158800-8160200	Bivalent Enhancer	Fetal Brain Male	brain
5	chr4:8158800-8161200	Active TSS	Brain Angular Gyrus	brain
6	chr4:8159000-8160400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr4:8159200-8160000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:8159200-8160000	Flanking Active TSS	Esophagus	oesophagus
9	chr4:8159200-8160000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
10	chr4:8159200-8160000	Enhancers	Fetal Heart	heart
11	chr4:8159200-8160000	Flanking Active TSS	Pancreas	Pancrea
12	chr4:8159200-8160000	Flanking Active TSS	Spleen	Spleen
13	chr4:8159200-8160000	Bivalent Enhancer	NHLF	lung
14	chr4:8159200-8160200	Bivalent Enhancer	Placenta	Placenta
15	chr4:8159200-8160200	Flanking Active TSS	Right Ventricle	heart
16	chr4:8159200-8160400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr4:8159200-8160400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr4:8159200-8161200	Active TSS	HSMM	muscle
19	chr4:8159200-8161600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:8159200-8162000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:8159400-8160000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr4:8159400-8160000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr4:8159400-8160000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr4:8159400-8160000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:8159400-8160000	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr4:8159400-8160000	Flanking Active TSS	Left Ventricle	heart
27	chr4:8159400-8160000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr4:8159400-8160000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr4:8159400-8160200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr4:8159400-8160200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr4:8159400-8160200	Bivalent Enhancer	Fetal Lung	lung
32	chr4:8159400-8160200	Flanking Active TSS	Lung	lung
33	chr4:8159400-8160400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:8159400-8160400	Flanking Active TSS	Colonic Mucosa	Colon
35	chr4:8159400-8161000	Active TSS	HSMMtube	muscle
36	chr4:8159400-8161600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr4:8159400-8161600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:8159400-8161600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr4:8159600-8160000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr4:8159600-8160000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:8159600-8160000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr4:8159600-8160000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr4:8159600-8160000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:8159600-8160000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr4:8159600-8160000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
46	chr4:8159600-8160000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr4:8159600-8160000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:8159600-8160000	Bivalent Enhancer	Fetal Stomach	stomach
49	chr4:8159600-8160000	Flanking Active TSS	Gastric	stomach
50	chr4:8159600-8160000	Enhancers	Small Intestine	intestine

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