Variant report

Variant	rs2609945
Chromosome Location	chr2:30864326-30864327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30859615..30861483-chr2:30862535..30865064,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10167083	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10175399	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs10183928	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865520	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1096109	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11127278	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12053428	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12468064	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252625	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs1252631	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252640	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252646	0.86[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs1252651	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1447186	0.84[EUR][1000 genomes]
rs1447187	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1470533	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1470534	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1470536	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1525062	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[ASN][1000 genomes]
rs1869423	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869424	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869429	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1975555	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121600	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123753	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2177698	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593440	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593442	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593443	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593448	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593452	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593455	0.83[EUR][1000 genomes]
rs2593458	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593459	0.82[EUR][1000 genomes]
rs2593460	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593461	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593462	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593464	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593465	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593466	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593474	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602767	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602780	0.83[EUR][1000 genomes]
rs2602782	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602783	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602784	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602785	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602786	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602789	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602790	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602791	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602792	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602798	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602799	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602806	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602807	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609917	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609924	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609925	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609926	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609943	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609950	0.81[EUR][1000 genomes]
rs2609952	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2609955	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2609956	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2609958	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3862977	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952147	0.86[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs6731031	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740440	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[ASN][1000 genomes]
rs6759011	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566983	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7572318	0.93[ASN][1000 genomes]
rs7583211	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7591110	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs7592355	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs7605994	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7606200	0.93[ASN][1000 genomes]
rs829563	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs829564	0.93[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs829565	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs829574	0.82[JPT][hapmap]
rs829575	0.86[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs829582	0.82[JPT][hapmap]
rs829616	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829617	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829618	0.86[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs829619	0.82[JPT][hapmap]
rs829620	0.82[JPT][hapmap]
rs829622	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829629	0.80[ASN][1000 genomes]
rs829630	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829631	0.82[JPT][hapmap]
rs829632	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs829634	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829635	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829637	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829641	0.86[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs829642	0.89[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs829646	0.87[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs829653	0.93[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs829654	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829655	0.82[JPT][hapmap]
rs829659	0.89[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs829660	0.86[ASN][1000 genomes]
rs829661	0.82[JPT][hapmap]
rs829664	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829669	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829671	0.82[JPT][hapmap]
rs829672	0.82[JPT][hapmap]
rs829673	0.82[JPT][hapmap]
rs829675	0.82[JPT][hapmap]
rs829677	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829679	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs829680	0.82[JPT][hapmap]
rs829681	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs829682	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs829684	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs844194	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs860487	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs866680	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs895662	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs895665	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2609945	TMEM214	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:30850400-30869200	Weak transcription	Gastric	stomach
9	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
14	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
16	chr2:30854400-30865000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:30854400-30865200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:30854400-30866600	Weak transcription	GM12878-XiMat	blood
19	chr2:30854600-30864800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:30855000-30865000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:30855000-30865400	Weak transcription	HSMM	muscle
22	chr2:30855600-30867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:30856400-30866600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
25	chr2:30858600-30865400	Strong transcription	Primary T cells from cord blood	blood
26	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
27	chr2:30860200-30865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:30860200-30866200	Weak transcription	HUVEC	blood vessel
29	chr2:30860400-30878200	Weak transcription	NHLF	lung
30	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
31	chr2:30861600-30864400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:30861600-30864600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:30861600-30864800	Strong transcription	Primary B cells from cord blood	blood
34	chr2:30861600-30864800	Weak transcription	NHEK	skin
35	chr2:30861600-30865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:30862200-30864600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:30862200-30865200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:30862400-30864800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:30862400-30866800	Weak transcription	HMEC	breast
42	chr2:30862400-30868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:30862600-30865000	Weak transcription	Fetal Kidney	kidney
44	chr2:30862600-30865200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr2:30862800-30864400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:30862800-30864400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:30862800-30865200	Strong transcription	Dnd41	blood
48	chr2:30862800-30865600	Strong transcription	Fetal Lung	lung
49	chr2:30863000-30864600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:30863000-30864600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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