Variant report

Variant	rs7559747
Chromosome Location	chr2:30809981-30809982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30809203..30812832-chr2:30884056..30887264,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1036941	0.91[ASN][1000 genomes]
rs1060737	0.80[ASN][1000 genomes]
rs11127281	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11692096	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11895131	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11901266	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252619	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1252627	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252632	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252633	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252634	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252635	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252642	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1252645	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1286	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1662943	0.91[ASN][1000 genomes]
rs1662945	0.92[ASN][1000 genomes]
rs17395007	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17395091	0.87[AFR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1807334	0.80[ASN][1000 genomes]
rs1869422	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2244911	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2250956	0.80[ASN][1000 genomes]
rs2253299	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2262947	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2593436	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593445	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2593473	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602781	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602795	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602796	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602803	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602809	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2609919	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2609920	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2609944	0.80[ASN][1000 genomes]
rs2609957	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2609961	0.89[AFR][1000 genomes]
rs711241	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73922662	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829566	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829567	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829568	0.92[ASN][1000 genomes]
rs829621	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829624	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829625	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829633	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829640	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829643	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829652	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829656	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs829657	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs829674	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829676	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829678	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829683	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829685	0.82[EUR][1000 genomes];0.92[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
3	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
5	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:30784000-30812200	Weak transcription	NH-A	brain
9	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
15	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
17	chr2:30790400-30811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:30790800-30812200	Weak transcription	Right Ventricle	heart
19	chr2:30792400-30810200	Weak transcription	NHEK	skin
20	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:30792800-30818400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:30792800-30818800	Weak transcription	Fetal Kidney	kidney
23	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:30793000-30811800	Weak transcription	NHDF-Ad	bronchial
25	chr2:30796600-30827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:30798000-30814200	Weak transcription	Fetal Thymus	thymus
27	chr2:30798000-30827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:30799400-30812400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:30804000-30811400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:30804200-30811000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:30805800-30812000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:30806200-30810800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:30806400-30810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:30807200-30810800	Weak transcription	Aorta	Aorta
36	chr2:30807200-30811000	Weak transcription	Psoas Muscle	Psoas
37	chr2:30807400-30810200	Enhancers	Primary B cells from cord blood	blood
38	chr2:30807400-30810800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:30807400-30811800	Weak transcription	Osteobl	bone
40	chr2:30807400-30812200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:30807400-30831200	Weak transcription	K562	blood
42	chr2:30807600-30811000	Weak transcription	Ovary	ovary
43	chr2:30807600-30818200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:30807800-30811200	Weak transcription	HSMM	muscle
45	chr2:30807800-30822800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:30808000-30817400	Weak transcription	GM12878-XiMat	blood
47	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:30808400-30812000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:30808400-30818600	Weak transcription	Gastric	stomach
50	chr2:30808800-30810800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links