Variant report

Variant	rs13004177
Chromosome Location	chr2:10484041-10484042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10482196..10484399-chr2:10524859..10527716,2	K562	blood:
2	chr2:10479084..10480668-chr2:10482824..10485763,2	MCF-7	breast:
3	chr2:10482073..10484136-chr2:10509588..10511163,2	K562	blood:
4	chr2:10481938..10484787-chr2:10588260..10589852,2	K562	blood:
5	chr2:10483117..10484704-chr2:10552041..10554561,2	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1819825	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34439966	0.80[ASN][1000 genomes]
rs35790543	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35935820	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71439003	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
3	chr2:10473000-10484400	Weak transcription	Right Atrium	heart
4	chr2:10473000-10484800	Weak transcription	Osteobl	bone
5	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
8	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:10473400-10484800	Weak transcription	Small Intestine	intestine
10	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
12	chr2:10475600-10485200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:10475800-10484200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:10475800-10486200	Weak transcription	HSMMtube	muscle
15	chr2:10476000-10485200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:10476400-10488600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:10478800-10488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:10479200-10486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:10479200-10487600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:10480400-10484200	Weak transcription	Fetal Kidney	kidney
21	chr2:10480400-10484400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:10480400-10486200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:10480600-10485200	Weak transcription	Stomach Mucosa	stomach
24	chr2:10480600-10487200	Weak transcription	Fetal Intestine Large	intestine
25	chr2:10480600-10488200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:10480800-10484400	Weak transcription	NH-A	brain
27	chr2:10480800-10487600	Enhancers	A549	lung
28	chr2:10481000-10485000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:10481000-10485000	Weak transcription	Hela-S3	cervix
30	chr2:10481000-10485400	Weak transcription	HMEC	breast
31	chr2:10481400-10487400	Weak transcription	NHEK	skin
32	chr2:10481600-10484600	Weak transcription	Primary T cells from cord blood	blood
33	chr2:10481600-10485200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:10481800-10486000	Weak transcription	Spleen	Spleen
35	chr2:10481800-10491400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:10482000-10484200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:10482400-10484600	Enhancers	Gastric	stomach
38	chr2:10482400-10484600	Enhancers	Lung	lung
39	chr2:10482400-10488000	Enhancers	Pancreas	Pancrea
40	chr2:10482600-10485200	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:10482800-10484200	Weak transcription	Adipose Nuclei	Adipose
42	chr2:10482800-10484200	Enhancers	Psoas Muscle	Psoas
43	chr2:10482800-10484400	Strong transcription	Fetal Intestine Small	intestine
44	chr2:10482800-10484600	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:10482800-10485400	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:10483000-10484600	Enhancers	Fetal Muscle Leg	muscle
47	chr2:10483000-10486000	Weak transcription	Left Ventricle	heart
48	chr2:10483000-10488000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:10483000-10488200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:10483000-10488800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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