Variant report

Variant	rs182930694
Chromosome Location	chr8:96063707-96063708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95906524..95908968-chr8:96061883..96064789,2	MCF-7	breast:
2	chr8:96060626..96064106-chr8:96144836..96147979,3	MCF-7	breast:
3	chr8:96053111..96056097-chr8:96061243..96063716,2	MCF-7	breast:
4	chr8:96050393..96052633-chr8:96061635..96064510,2	K562	blood:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
2	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
5	chr8:96038400-96066800	Weak transcription	Stomach Mucosa	stomach
6	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:96042800-96072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:96044200-96071800	Strong transcription	Dnd41	blood
9	chr8:96044400-96066600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:96044400-96066800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:96044600-96065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:96044800-96066600	Strong transcription	Fetal Thymus	thymus
13	chr8:96045000-96068800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:96045800-96064000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:96046400-96070200	Weak transcription	Gastric	stomach
16	chr8:96048400-96071800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:96050000-96063800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:96052000-96063800	Strong transcription	A549	lung
19	chr8:96052000-96064600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:96052000-96065000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:96052000-96065400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr8:96052200-96065800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:96052200-96070200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:96052400-96068200	Strong transcription	Liver	Liver
25	chr8:96052800-96063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:96052800-96065800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:96054000-96065800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:96055200-96064600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:96055200-96064800	Strong transcription	K562	blood
30	chr8:96055400-96066600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:96055600-96063800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:96056200-96068600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:96056400-96064200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:96057000-96064800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:96057000-96065600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr8:96057400-96064400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:96057600-96063800	Strong transcription	Placenta	Placenta
38	chr8:96058000-96064400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:96058000-96066600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:96058200-96064000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:96058200-96064000	Strong transcription	Brain Anterior Caudate	brain
42	chr8:96058200-96064800	Strong transcription	Primary T cells from cord blood	blood
43	chr8:96058400-96064000	Strong transcription	Fetal Stomach	stomach
44	chr8:96058400-96066600	Strong transcription	Fetal Muscle Leg	muscle
45	chr8:96058400-96068800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:96058600-96063800	Strong transcription	Fetal Kidney	kidney
47	chr8:96058600-96065200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:96058600-96066000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:96058600-96066800	Strong transcription	Fetal Intestine Large	intestine
50	chr8:96058800-96063800	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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