Variant report

Variant	rs730664
Chromosome Location	chr2:127446937-127446938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv965826	chr2:127445780-127453618	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3373657	chr2:127446007-127449972	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2429496	chr2:127446841-127451443	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127424200-127451000	Weak transcription	NHLF	lung
3	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
11	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
12	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:127439000-127447600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:127440400-127447400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
17	chr2:127440600-127447400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:127442000-127447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:127442000-127456800	Weak transcription	Osteobl	bone
20	chr2:127442400-127447600	Weak transcription	Aorta	Aorta
21	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:127443600-127447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
24	chr2:127443800-127447600	Weak transcription	Fetal Lung	lung
25	chr2:127443800-127447800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:127443800-127448800	Weak transcription	Thymus	Thymus
27	chr2:127444000-127447000	Enhancers	Right Ventricle	heart
28	chr2:127444000-127447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:127444000-127447400	Weak transcription	Ovary	ovary
30	chr2:127444000-127447600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:127444000-127448800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:127444200-127447600	Weak transcription	Spleen	Spleen
35	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:127444400-127447000	Enhancers	Adipose Nuclei	Adipose
37	chr2:127444400-127447400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:127444400-127447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:127444400-127447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:127444600-127447000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:127444600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:127444600-127449600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:127444600-127451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:127444800-127447400	Weak transcription	Lung	lung
46	chr2:127444800-127447800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:127445000-127448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:127445200-127447400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:127445400-127447400	Weak transcription	Fetal Stomach	stomach

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