Variant report

Variant	rs10175399
Chromosome Location	chr2:30798133-30798134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30797165..30799118-chr2:30800641..30802160,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10167083	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10183928	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12053428	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs12468064	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252624	0.84[EUR][1000 genomes]
rs1252625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1252631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1252651	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252654	1.00[JPT][hapmap]
rs1525062	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1869423	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1869424	0.93[CEU][hapmap]
rs1975555	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2121600	0.86[CEU][hapmap]
rs2123753	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2167969	0.85[EUR][1000 genomes]
rs2177698	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593442	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593474	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs2602767	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2602808	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2609917	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2609945	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs4952147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6731031	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6740440	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6749074	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7583211	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs7591110	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs7592355	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829563	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs829564	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829565	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829574	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs829575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829582	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs829618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs829619	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829620	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829622	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs829630	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829631	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829632	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs829641	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs829642	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829646	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829653	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829654	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs829655	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829659	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs829661	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829664	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs829669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829671	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs829672	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs829673	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829675	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829680	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829681	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829682	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs829684	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829695	0.85[JPT][hapmap]
rs829696	0.85[JPT][hapmap]
rs829699	0.85[JPT][hapmap]
rs844194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs860487	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs866680	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs9309680	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:68 , 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	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
4	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:30759200-30805600	Weak transcription	K562	blood
6	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
8	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
10	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:30784000-30812200	Weak transcription	NH-A	brain
13	chr2:30784600-30798800	Weak transcription	Liver	Liver
14	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:30785200-30806800	Weak transcription	Lung	lung
17	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:30785800-30802800	Weak transcription	Dnd41	blood
20	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
22	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:30789000-30799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
29	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
31	chr2:30789800-30799400	Weak transcription	Adipose Nuclei	Adipose
32	chr2:30789800-30805400	Weak transcription	Ovary	ovary
33	chr2:30790200-30802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:30790400-30811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:30790800-30812200	Weak transcription	Right Ventricle	heart
36	chr2:30791200-30801600	Weak transcription	A549	lung
37	chr2:30792400-30799400	Weak transcription	HepG2	liver
38	chr2:30792400-30810200	Weak transcription	NHEK	skin
39	chr2:30792600-30802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:30792800-30802200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:30792800-30818400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:30792800-30818800	Weak transcription	Fetal Kidney	kidney
44	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:30793000-30798200	Strong transcription	Primary T cells from cord blood	blood
46	chr2:30793000-30811800	Weak transcription	NHDF-Ad	bronchial
47	chr2:30793400-30802600	Weak transcription	Primary B cells from cord blood	blood
48	chr2:30793400-30805200	Weak transcription	HSMM	muscle
49	chr2:30795400-30798600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:30796400-30799400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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