Variant report

Variant	rs570716654
Chromosome Location	chr8:124682372-124682373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:
2	chr8:124678619..124681390-chr8:124681929..124684973,3	K562	blood:
3	chr8:124680792..124682751-chr8:124780380..124781997,2	MCF-7	breast:
4	chr8:124553226..124555664-chr8:124681802..124684718,3	MCF-7	breast:
5	chr8:124576323..124577993-chr8:124681885..124683478,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3389360	chr8:124682157-124682745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
3	chr8:124678600-124683600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:124679000-124683600	Weak transcription	Right Ventricle	heart
5	chr8:124680400-124684200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124680400-124684400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124680600-124683800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:124680600-124684200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:124680600-124684200	Enhancers	Stomach Smooth Muscle	stomach
10	chr8:124680600-124684200	Enhancers	NH-A	brain
11	chr8:124680600-124684200	Enhancers	Osteobl	bone
12	chr8:124680600-124684400	Enhancers	HMEC	breast
13	chr8:124680800-124682400	Enhancers	Fetal Heart	heart
14	chr8:124680800-124683600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:124680800-124684200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:124680800-124684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:124680800-124684200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:124681000-124682800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:124681000-124683000	Weak transcription	HUVEC	blood vessel
20	chr8:124681000-124683600	Weak transcription	Placenta	Placenta
21	chr8:124681000-124684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:124681000-124684600	Enhancers	NHDF-Ad	bronchial
23	chr8:124681200-124684000	Enhancers	Brain Hippocampus Middle	brain
24	chr8:124681200-124684200	Enhancers	Ovary	ovary
25	chr8:124681200-124684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:124681400-124682800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:124681400-124682800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:124681400-124683000	Enhancers	NHLF	lung
29	chr8:124681400-124683200	Enhancers	A549	lung
30	chr8:124681400-124684400	Enhancers	Fetal Intestine Small	intestine
31	chr8:124681600-124682600	Weak transcription	HSMM	muscle
32	chr8:124681600-124682600	Weak transcription	NHEK	skin
33	chr8:124681600-124683200	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:124681600-124683600	Weak transcription	Aorta	Aorta
35	chr8:124681600-124684200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:124681800-124682400	Weak transcription	Colonic Mucosa	Colon
37	chr8:124681800-124682600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:124681800-124682600	Weak transcription	Small Intestine	intestine
39	chr8:124681800-124682800	Weak transcription	Psoas Muscle	Psoas
40	chr8:124681800-124683400	Weak transcription	Brain Anterior Caudate	brain
41	chr8:124681800-124683400	Weak transcription	Fetal Stomach	stomach
42	chr8:124681800-124683600	Weak transcription	Brain Angular Gyrus	brain
43	chr8:124681800-124683600	Weak transcription	Left Ventricle	heart
44	chr8:124681800-124683600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:124681800-124683600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:124681800-124683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:124682000-124682600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:124682000-124683400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:124682000-124683400	Weak transcription	HSMMtube	muscle
50	chr8:124682200-124683400	Weak transcription	Brain Cingulate Gyrus	brain

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