Variant report

Variant	rs549943915
Chromosome Location	chr2:231051403-231051404
allele	C/T
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	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231028400-231067000	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:231028800-231051600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:231031400-231051600	Strong transcription	GM12878-XiMat	blood
4	chr2:231031400-231061200	Strong transcription	Primary B cells from cord blood	blood
5	chr2:231031600-231052400	Weak transcription	Fetal Brain Male	brain
6	chr2:231035000-231051800	Strong transcription	Primary T cells from cord blood	blood
7	chr2:231035400-231077000	Weak transcription	HepG2	liver
8	chr2:231035600-231051600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:231035800-231062800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:231036800-231071800	Weak transcription	NHEK	skin
11	chr2:231036800-231073600	Weak transcription	HMEC	breast
12	chr2:231038000-231069600	Weak transcription	NHLF	lung
13	chr2:231041400-231064600	Weak transcription	Osteobl	bone
14	chr2:231042800-231058400	Weak transcription	Brain Anterior Caudate	brain
15	chr2:231042800-231062600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:231043000-231062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:231043800-231057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:231043800-231062600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:231044600-231062600	Weak transcription	Psoas Muscle	Psoas
20	chr2:231044800-231062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:231044800-231062800	Weak transcription	Pancreas	Pancrea
22	chr2:231045000-231057600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:231045200-231062800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:231046000-231062600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:231046200-231062600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:231046200-231062800	Weak transcription	Right Ventricle	heart
27	chr2:231046200-231069800	Weak transcription	HSMM	muscle
28	chr2:231046400-231062400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:231047600-231062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:231048000-231062600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:231048000-231062600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:231048000-231062800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:231048200-231055400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:231048200-231057600	Weak transcription	Fetal Lung	lung
35	chr2:231048200-231058200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:231048200-231062600	Weak transcription	Small Intestine	intestine
37	chr2:231048200-231062600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:231048200-231062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:231048200-231062800	Weak transcription	Colonic Mucosa	Colon
40	chr2:231048200-231062800	Weak transcription	Gastric	stomach
41	chr2:231048200-231062800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:231048200-231062800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:231048400-231052200	Weak transcription	Fetal Intestine Small	intestine
44	chr2:231048400-231062800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:231048800-231052400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:231048800-231055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:231048800-231059400	Weak transcription	Lung	lung
48	chr2:231049000-231059600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:231049200-231058400	Weak transcription	Aorta	Aorta
50	chr2:231049200-231062800	Weak transcription	Duodenum Mucosa	Duodenum

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