Variant report

Variant	rs373312869
Chromosome Location	chr2:152976685-152976686
allele	-/GTC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152957588..152960335-chr2:152975953..152978509,2	K562	blood:
2	chr2:152972562..152974941-chr2:152975628..152977362,2	MCF-7	breast:
3	chr2:152975782..152978674-chr2:152980584..152983578,3	K562	blood:
4	chr2:152975782..152978627-chr2:152980580..152983578,3	K562	blood:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	esv3460627	chr2:152976655-152976779	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3460628	chr2:152976671-152976787	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 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	chr2:152956200-152978600	Weak transcription	Aorta	Aorta
2	chr2:152957200-152979400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:152964400-152977000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:152968000-152995800	Weak transcription	HSMMtube	muscle
5	chr2:152969200-152978600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:152969400-152989000	Weak transcription	HepG2	liver
7	chr2:152970000-152977000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:152970000-152977000	Weak transcription	Fetal Stomach	stomach
9	chr2:152970000-152977200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:152970000-152990800	Weak transcription	Stomach Mucosa	stomach
11	chr2:152970200-152977000	Weak transcription	Ovary	ovary
12	chr2:152970200-153003000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:152970600-152977000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:152970600-152977800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:152970800-152981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:152971000-152977000	Weak transcription	Thymus	Thymus
17	chr2:152971000-152978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:152971200-152977000	Weak transcription	Lung	lung
19	chr2:152971200-153008400	Weak transcription	Esophagus	oesophagus
20	chr2:152971400-153002200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:152971800-152977600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:152971800-152980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:152972000-152978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:152972800-152991000	Weak transcription	Gastric	stomach
25	chr2:152974000-152977000	Weak transcription	Fetal Intestine Large	intestine
26	chr2:152974000-152980000	Weak transcription	HSMM	muscle
27	chr2:152974200-152980000	Weak transcription	Fetal Kidney	kidney
28	chr2:152974200-153001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
30	chr2:152974400-152977000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:152974400-152977000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:152974600-152976800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:152974800-152977800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:152974800-153002000	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:152974800-153003800	Weak transcription	NHEK	skin
36	chr2:152974800-153008200	Weak transcription	Fetal Brain Female	brain
37	chr2:152975000-152977200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:152975000-152987800	Weak transcription	Right Ventricle	heart
39	chr2:152975000-153003200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:152975000-153003600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:152975000-153005400	Weak transcription	Brain Germinal Matrix	brain
42	chr2:152975200-152976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:152975200-152977600	Strong transcription	NHDF-Ad	bronchial
44	chr2:152975200-152990000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:152975400-152977000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:152975400-152982400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:152975400-152988800	Weak transcription	A549	lung
48	chr2:152975600-152977400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:152975600-152977600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:152975600-152978000	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links