Variant report

Variant	rs531191847
Chromosome Location	chr2:86016236-86016237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
2	chr2:86007953..86010891-chr2:86015873..86017457,2	MCF-7	breast:
3	chr2:86013683..86016312-chr2:86025949..86028304,2	MCF-7	breast:
4	chr2:85997689..85999503-chr2:86015915..86018374,2	MCF-7	breast:
5	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:
6	chr2:86005993..86008298-chr2:86013315..86016426,3	MCF-7	breast:
7	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
6	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
7	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
9	chr2:86012000-86016400	Enhancers	Right Atrium	heart
10	chr2:86012000-86019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:86012400-86016400	Genic enhancers	Right Ventricle	heart
12	chr2:86013200-86017200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:86013200-86017400	Weak transcription	Brain Germinal Matrix	brain
14	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:86013400-86017400	Weak transcription	NH-A	brain
16	chr2:86013400-86019000	Weak transcription	Psoas Muscle	Psoas
17	chr2:86013600-86017400	Strong transcription	Adipose Nuclei	Adipose
18	chr2:86013600-86017800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:86013600-86019000	Weak transcription	NHDF-Ad	bronchial
20	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:86013800-86016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:86013800-86019200	Weak transcription	HSMMtube	muscle
23	chr2:86014000-86017000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:86014000-86017800	Strong transcription	Fetal Lung	lung
25	chr2:86014000-86019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:86014200-86017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:86014400-86016600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:86014400-86018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:86014800-86016800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:86015000-86016400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:86015000-86016400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:86015000-86019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:86015200-86017200	Strong transcription	Lung	lung
36	chr2:86015200-86020000	Weak transcription	Liver	Liver
37	chr2:86015200-86020000	Weak transcription	Colonic Mucosa	Colon
38	chr2:86015400-86016600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:86015400-86016800	Weak transcription	Fetal Brain Male	brain
40	chr2:86015400-86017400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:86015400-86018800	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
43	chr2:86015600-86016400	Enhancers	Brain Substantia Nigra	brain
44	chr2:86015600-86016600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:86015600-86016600	Enhancers	Fetal Heart	heart
46	chr2:86015600-86017400	Weak transcription	Ovary	ovary
47	chr2:86015600-86020400	Genic enhancers	HSMM	muscle
48	chr2:86015800-86016400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:86015800-86016400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:86015800-86016400	Enhancers	A549	lung

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