Variant report

Variant	rs72958863
Chromosome Location	chr2:180808144-180808145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12465592	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12468986	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12693214	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12693215	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16867131	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1904850	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2367990	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs259810	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs259811	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2678936	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3843323	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3845701	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856415	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56401468	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433816	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6433818	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6433820	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433821	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6722147	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6727890	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6733426	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6744281	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6759271	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72960660	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72960664	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72960701	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72962517	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72962575	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs818661	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9288045	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180783800-180811800	Weak transcription	Left Ventricle	heart
2	chr2:180792000-180816400	Weak transcription	Aorta	Aorta
3	chr2:180792800-180808400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:180793200-180809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:180794800-180810000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:180795800-180809400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:180796000-180810600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:180796200-180809200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:180796400-180808600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:180796400-180809800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:180796400-180815000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:180796600-180809800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:180796600-180810200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:180797000-180808400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:180797000-180808800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:180797000-180810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:180797000-180815800	Weak transcription	Right Ventricle	heart
18	chr2:180797200-180808800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:180797400-180808600	Weak transcription	HSMM	muscle
20	chr2:180797400-180809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:180797400-180815200	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:180797800-180809800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:180797800-180811400	Weak transcription	Fetal Lung	lung
24	chr2:180797800-180818200	Weak transcription	Esophagus	oesophagus
25	chr2:180798000-180808200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:180798000-180809200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:180798000-180809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:180798000-180809800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:180798000-180813800	Weak transcription	Brain Angular Gyrus	brain
30	chr2:180798000-180814200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:180798000-180816200	Weak transcription	Pancreas	Pancrea
32	chr2:180798200-180815000	Weak transcription	Brain Substantia Nigra	brain
33	chr2:180798600-180816000	Weak transcription	Fetal Heart	heart
34	chr2:180799400-180809200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:180799600-180813400	Weak transcription	HMEC	breast
36	chr2:180799800-180809200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:180799800-180809800	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:180800000-180812800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:180800200-180808400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:180800200-180808600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:180800200-180808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:180800200-180816200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:180800800-180809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:180800800-180809800	Weak transcription	HSMMtube	muscle
45	chr2:180801000-180809400	Weak transcription	Osteobl	bone
46	chr2:180801000-180813600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:180801000-180836400	Weak transcription	Psoas Muscle	Psoas
48	chr2:180801400-180808800	Weak transcription	HepG2	liver
49	chr2:180801600-180809200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:180801800-180808600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links