Variant report

Variant	rs191711590
Chromosome Location	chr8:96001796-96001797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96000256..96002334-chr8:96021796..96023746,2	MCF-7	breast:
2	chr8:95979244..95983291-chr8:95999970..96003553,4	MCF-7	breast:
3	chr8:95959267..95964036-chr8:96000948..96003390,4	MCF-7	breast:
4	chr8:95966010..95969504-chr8:96000231..96003334,3	MCF-7	breast:
5	chr8:96000999..96003258-chr8:96004630..96006876,2	MCF-7	breast:
6	chr8:95999822..96002067-chr8:96113841..96115533,2	MCF-7	breast:
7	chr8:95998963..96001168-chr8:96001657..96004016,2	MCF-7	breast:
8	chr8:96000024..96003170-chr8:96035715..96037391,3	MCF-7	breast:
9	chr8:95985327..95987804-chr8:95999434..96002378,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253528	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156170	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	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:95974400-96002000	Weak transcription	Esophagus	oesophagus
3	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
4	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:95981000-96003000	Weak transcription	Fetal Lung	lung
6	chr8:95983800-96003600	Weak transcription	Pancreas	Pancrea
7	chr8:95987000-96019600	Weak transcription	Lung	lung
8	chr8:95987200-96003000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:95988000-96002400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:95988000-96004800	Weak transcription	HMEC	breast
12	chr8:95990200-96002200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:95992800-96002400	Weak transcription	Psoas Muscle	Psoas
14	chr8:95992800-96002800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:95992800-96003000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:95993600-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:95993800-96009200	Weak transcription	Primary T cells from cord blood	blood
18	chr8:95997200-96002400	Weak transcription	Dnd41	blood
19	chr8:95997400-96018000	Weak transcription	HSMMtube	muscle
20	chr8:95997600-96004200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:95997600-96009000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:95997600-96009200	Weak transcription	Thymus	Thymus
23	chr8:95998600-96001800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:95998800-96003000	Weak transcription	Fetal Thymus	thymus
25	chr8:95999000-96003400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:95999200-96003200	Enhancers	NHDF-Ad	bronchial
27	chr8:95999400-96002000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:95999800-96002600	Weak transcription	Fetal Stomach	stomach
29	chr8:96000000-96002000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:96000000-96008800	Weak transcription	Spleen	Spleen
31	chr8:96000200-96002800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:96000200-96003000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:96000400-96002000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:96000400-96002000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:96000400-96002800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:96000400-96003000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:96000400-96003400	Weak transcription	Left Ventricle	heart
38	chr8:96000400-96005000	Weak transcription	Right Atrium	heart
39	chr8:96000400-96009200	Weak transcription	Brain Angular Gyrus	brain
40	chr8:96000600-96002400	Weak transcription	HepG2	liver
41	chr8:96000600-96003000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:96000600-96003000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:96000600-96009200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:96000800-96002600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:96000800-96002800	Weak transcription	Adipose Nuclei	Adipose
46	chr8:96000800-96002800	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:96000800-96005800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:96000800-96009000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:96001000-96002200	Weak transcription	HUVEC	blood vessel
50	chr8:96001000-96002400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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