Variant report

Variant	rs7817530
Chromosome Location	chr8:95536994-95536995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95536103..95541001-chr8:95541149..95546680,4	MCF-7	breast:
2	chr8:95534517..95536607-chr8:95536674..95538361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254315	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7001310	0.83[AMR][1000 genomes]
rs7015210	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
9	chr8:95517600-95538600	Weak transcription	Fetal Brain Male	brain
10	chr8:95517600-95540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:95523800-95539200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:95524000-95538200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:95524000-95540400	Weak transcription	Colonic Mucosa	Colon
16	chr8:95525200-95538200	Weak transcription	Brain Substantia Nigra	brain
17	chr8:95527600-95548600	Strong transcription	Fetal Muscle Leg	muscle
18	chr8:95528000-95542400	Weak transcription	Pancreas	Pancrea
19	chr8:95528400-95538400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:95528400-95540800	Weak transcription	Spleen	Spleen
21	chr8:95528400-95541200	Weak transcription	Right Ventricle	heart
22	chr8:95528400-95542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:95531000-95537000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:95531000-95537000	Weak transcription	Fetal Brain Female	brain
25	chr8:95531400-95537000	Weak transcription	Hela-S3	cervix
26	chr8:95531400-95537400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:95531600-95537000	Weak transcription	Fetal Kidney	kidney
28	chr8:95531600-95537000	Weak transcription	A549	lung
29	chr8:95531600-95537000	Weak transcription	HSMMtube	muscle
30	chr8:95531600-95537000	Weak transcription	NHLF	lung
31	chr8:95531600-95537200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:95531600-95537200	Weak transcription	Left Ventricle	heart
33	chr8:95531600-95538600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:95531600-95540200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:95531600-95540800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:95531800-95537000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:95531800-95537000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:95531800-95537000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:95531800-95537000	Weak transcription	Fetal Lung	lung
40	chr8:95531800-95537400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:95531800-95537400	Weak transcription	NH-A	brain
42	chr8:95531800-95537800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:95531800-95538400	Weak transcription	Aorta	Aorta
44	chr8:95531800-95538600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:95532000-95537000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:95532000-95537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:95532000-95537800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:95532000-95538200	Weak transcription	Osteobl	bone
49	chr8:95532000-95538400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:95532000-95538600	Weak transcription	NHDF-Ad	bronchial

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