Variant report

Variant	rs185716494
Chromosome Location	chr2:101032199-101032200
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	chr2:100940073..100942309-chr2:101029977..101032288,2	K562	blood:

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv829583	chr2:101031032-101038750	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
2	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:101014400-101033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:101014800-101032400	Weak transcription	Hela-S3	cervix
8	chr2:101015600-101033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:101016400-101032600	Weak transcription	HSMM	muscle
10	chr2:101017000-101032800	Weak transcription	Osteobl	bone
11	chr2:101018400-101033000	Weak transcription	Primary B cells from cord blood	blood
12	chr2:101019000-101032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:101021000-101033200	Weak transcription	Colonic Mucosa	Colon
14	chr2:101022200-101033000	Weak transcription	HSMMtube	muscle
15	chr2:101022600-101032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:101022800-101032200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:101022800-101032400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:101022800-101033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:101022800-101033000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:101023200-101032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:101023200-101033000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:101023200-101033000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:101023200-101033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:101023200-101033000	Weak transcription	Fetal Thymus	thymus
25	chr2:101023400-101032600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:101023400-101033000	Weak transcription	Fetal Kidney	kidney
27	chr2:101023600-101032800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:101023800-101032200	Weak transcription	Ovary	ovary
29	chr2:101023800-101032800	Weak transcription	Psoas Muscle	Psoas
30	chr2:101024000-101033000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:101024200-101032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:101024200-101032800	Weak transcription	Adipose Nuclei	Adipose
33	chr2:101024200-101033000	Weak transcription	Gastric	stomach
34	chr2:101024400-101033000	Weak transcription	Spleen	Spleen
35	chr2:101025000-101033000	Weak transcription	Pancreas	Pancrea
36	chr2:101025600-101032400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:101025800-101032200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:101027000-101033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:101027000-101033000	Weak transcription	Placenta	Placenta
40	chr2:101027000-101033000	Weak transcription	Left Ventricle	heart
41	chr2:101027000-101033000	Weak transcription	Lung	lung
42	chr2:101027000-101033000	Weak transcription	Right Ventricle	heart
43	chr2:101027000-101033200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:101027800-101032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:101028000-101032200	Enhancers	Brain Hippocampus Middle	brain
46	chr2:101028000-101033000	Enhancers	Brain Substantia Nigra	brain
47	chr2:101028800-101032800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:101029000-101032400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:101029000-101033000	Weak transcription	Aorta	Aorta
50	chr2:101029600-101033000	Weak transcription	Placenta Amnion	Placenta Amnion

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