Variant report

Variant	rs116134581
Chromosome Location	chr2:99442261-99442262
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
2	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:99439400-99442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:99439600-99442800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:99439800-99444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:99439800-99446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:99440000-99443200	Enhancers	HepG2	liver
9	chr2:99440000-99447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:99440200-99444000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
13	chr2:99440400-99442400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:99440400-99444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
17	chr2:99440600-99442400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:99440600-99442800	Enhancers	Primary B cells from cord blood	blood
19	chr2:99440600-99444200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:99440600-99445600	Weak transcription	Right Atrium	heart
21	chr2:99440600-99445600	Weak transcription	Spleen	Spleen
22	chr2:99440600-99449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:99440600-99449600	Weak transcription	HMEC	breast
24	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:99441000-99442600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:99441000-99445200	Weak transcription	Thymus	Thymus
27	chr2:99441000-99449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:99441200-99442400	Enhancers	Left Ventricle	heart
29	chr2:99441200-99442400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:99441200-99444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:99441400-99442400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr2:99441400-99445200	Weak transcription	HUVEC	blood vessel
33	chr2:99441600-99442400	Enhancers	Brain Substantia Nigra	brain
34	chr2:99441600-99444000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:99441600-99444200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:99441600-99444200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:99441600-99444200	Weak transcription	Fetal Thymus	thymus
38	chr2:99441800-99444200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:99441800-99444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:99441800-99444200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:99441800-99444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:99441800-99445600	Weak transcription	Lung	lung
43	chr2:99441800-99446600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:99441800-99449000	Weak transcription	Brain Anterior Caudate	brain
45	chr2:99442000-99442800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:99442000-99443600	Strong transcription	Pancreas	Pancrea
47	chr2:99442000-99443800	Strong transcription	Gastric	stomach
48	chr2:99442000-99443800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:99442000-99444400	Strong transcription	Fetal Intestine Small	intestine
50	chr2:99442200-99442400	Bivalent Enhancer	Adipose Nuclei	Adipose

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