Variant report

Variant	rs917911
Chromosome Location	chr12:9905851-9905852
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9903679..9905880-chr12:10079207..10081404,2	K562	blood:
2	chr12:9902845..9905965-chr18:46122603..46125602,4	K562	blood:
3	chr12:9904754..9907523-chr12:9964008..9966438,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1008610	0.95[JPT][hapmap]
rs1044771	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs10466829	0.91[JPT][hapmap]
rs10492165	0.95[JPT][hapmap]
rs10492166	0.95[JPT][hapmap]
rs10743823	0.82[JPT][hapmap]
rs10772085	0.91[JPT][hapmap]
rs10772087	0.95[JPT][hapmap]
rs10772102	0.95[JPT][hapmap]
rs10844456	0.86[JPT][hapmap]
rs10844503	0.86[JPT][hapmap]
rs10844537	0.86[JPT][hapmap]
rs10844615	0.91[JPT][hapmap]
rs10844617	0.91[JPT][hapmap]
rs10844620	0.95[JPT][hapmap]
rs10844636	0.95[JPT][hapmap]
rs10844638	0.95[JPT][hapmap]
rs10844657	0.95[JPT][hapmap]
rs10844706	0.86[JPT][hapmap]
rs11052372	0.81[JPT][hapmap]
rs11052423	0.81[JPT][hapmap]
rs11052426	0.86[JPT][hapmap]
rs11052552	0.85[JPT][hapmap]
rs11052710	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs11052877	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12227655	0.91[JPT][hapmap]
rs17806710	0.85[JPT][hapmap]
rs1985788	0.80[ASN][1000 genomes]
rs2080211	0.85[JPT][hapmap]
rs2098298	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2268146	0.91[JPT][hapmap]
rs2401391	0.91[JPT][hapmap]
rs2401393	0.91[JPT][hapmap]
rs2895988	0.85[JPT][hapmap]
rs3764021	0.81[JPT][hapmap]
rs3764022	0.81[JPT][hapmap]
rs4763839	0.82[ASN][1000 genomes]
rs4763840	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4763879	0.86[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61163981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7296241	0.91[JPT][hapmap]
rs7306304	0.91[JPT][hapmap]
rs7306557	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs7310460	0.90[JPT][hapmap]
rs7970116	0.91[JPT][hapmap]
rs7973638	0.91[JPT][hapmap]
rs7974396	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv976572	chr12:9896625-9906830	Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs917911	CLECL1	Cis_1M	lymphoblastoid	RTeQTL
rs917911	CLEC2D	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:9895600-9906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:9896400-9911000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:9903400-9907600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:9903600-9911000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:9903800-9911200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:9904000-9910200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:9904200-9910800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:9904200-9911200	Weak transcription	Small Intestine	intestine
11	chr12:9904400-9913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:9904600-9913400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr12:9904800-9907000	Weak transcription	Thymus	Thymus
14	chr12:9904800-9908800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:9904800-9908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:9905000-9908600	Strong transcription	Primary B cells from cord blood	blood
17	chr12:9905200-9906000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:9905200-9907800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:9905200-9908600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:9905200-9908800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:9905200-9908800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:9905200-9908800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:9905200-9908800	Strong transcription	K562	blood
24	chr12:9905200-9909400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:9905400-9907600	Strong transcription	Dnd41	blood
26	chr12:9905400-9908800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:9905400-9908800	Strong transcription	Fetal Thymus	thymus
28	chr12:9905400-9909200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:9905600-9906000	Enhancers	HUVEC	blood vessel
30	chr12:9905600-9907200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:9905600-9908800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr12:9905600-9908800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:9905600-9908800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:9905600-9908800	Strong transcription	GM12878-XiMat	blood
35	chr12:9905600-9909000	Genic enhancers	Primary T cells from cord blood	blood
36	chr12:9905600-9913400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:9905800-9907400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:9905800-9910600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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