Variant report

Variant	rs3176802
Chromosome Location	chr12:9904807-9904808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

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	chr12:9903687..9905772-chr12:9958368..9961230,2	K562	blood:
4	chr12:9797900..9800750-chr12:9903468..9905563,2	K562	blood:
5	chr12:9903036..9905179-chr12:10078668..10080707,2	K562	blood:
6	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:
7	chr12:9904754..9907523-chr12:9964008..9966438,2	K562	blood:
8	chr12:9786956..9789241-chr12:9902375..9904893,3	K562	blood:
9	chr12:9902845..9905395-chr18:46122603..46125600,2	K562	blood:
10	chr12:9785937..9789241-chr12:9902375..9905044,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1008611	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10466762	1.00[JPT][hapmap]
rs1051065	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10743821	1.00[CHB][hapmap]
rs10743822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10772005	1.00[JPT][hapmap]
rs10772006	1.00[JPT][hapmap]
rs10772104	1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10772119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844350	1.00[JPT][hapmap]
rs10844351	1.00[JPT][hapmap]
rs10844359	1.00[JPT][hapmap]
rs10844372	1.00[JPT][hapmap]
rs10844418	1.00[JPT][hapmap]
rs10844424	1.00[JPT][hapmap]
rs10844429	1.00[JPT][hapmap]
rs10844676	0.91[ASN][1000 genomes]
rs10844780	1.00[JPT][hapmap]
rs11052234	1.00[JPT][hapmap]
rs11052241	1.00[JPT][hapmap]
rs11052254	1.00[JPT][hapmap]
rs11052430	1.00[JPT][hapmap]
rs11052771	0.82[ASN][1000 genomes]
rs11053051	1.00[JPT][hapmap]
rs12366653	1.00[JPT][hapmap]
rs12368445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12578928	1.00[JPT][hapmap]
rs12810851	1.00[JPT][hapmap]
rs12823699	1.00[JPT][hapmap]
rs12824491	1.00[JPT][hapmap]
rs12825507	1.00[JPT][hapmap]
rs12828602	1.00[JPT][hapmap]
rs12830419	1.00[JPT][hapmap]
rs12831453	1.00[JPT][hapmap]
rs1560008	1.00[JPT][hapmap]
rs16913477	1.00[JPT][hapmap]
rs17806015	0.91[ASW][hapmap]
rs1863871	1.00[JPT][hapmap]
rs1990533	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2114869	1.00[JPT][hapmap]
rs2114872	1.00[JPT][hapmap]
rs2401396	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2401397	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136577	0.81[ASN][1000 genomes]
rs3176793	0.91[ASW][hapmap]
rs3176800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176804	0.81[ASN][1000 genomes]
rs3176806	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176807	0.81[ASN][1000 genomes]
rs3176808	0.81[ASN][1000 genomes]
rs34279883	0.81[ASN][1000 genomes]
rs35494990	0.81[ASN][1000 genomes]
rs4763865	0.91[ASN][1000 genomes]
rs4763867	0.91[ASN][1000 genomes]
rs6416258	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488065	1.00[JPT][hapmap]
rs704223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132037	1.00[JPT][hapmap]
rs7297324	0.91[ASN][1000 genomes]
rs7302110	1.00[JPT][hapmap]
rs7302746	1.00[JPT][hapmap]
rs7304321	1.00[JPT][hapmap]
rs7304464	1.00[JPT][hapmap]
rs7309800	1.00[JPT][hapmap]
rs7310568	1.00[JPT][hapmap]
rs7310790	1.00[JPT][hapmap]
rs7310897	1.00[JPT][hapmap]
rs7311421	1.00[JPT][hapmap]
rs7311574	1.00[JPT][hapmap]
rs7311945	1.00[JPT][hapmap]
rs7312624	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7961416	1.00[JPT][hapmap]
rs7962321	1.00[JPT][hapmap]
rs7971721	0.91[ASN][1000 genomes]
rs7974871	1.00[JPT][hapmap]
rs7978187	1.00[JPT][hapmap]
rs929615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9630265	1.00[JPT][hapmap]
rs982511	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9919786	1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3176802	KLRK1	cis	parietal	SCAN
rs3176802	TAS2R42	cis	cerebellum	SCAN
rs3176802	FOXJ2	cis	parietal	SCAN

Chromatin state (count:40 , 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	chr12:9902800-9905000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:9903200-9905800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:9903400-9907600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:9903600-9905200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:9903600-9911000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:9903800-9905200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:9903800-9911200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:9904000-9905600	Weak transcription	GM12878-XiMat	blood
13	chr12:9904000-9905800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:9904000-9910200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:9904200-9905200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:9904200-9905200	Weak transcription	K562	blood
17	chr12:9904200-9905600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:9904200-9910800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:9904200-9911200	Weak transcription	Small Intestine	intestine
20	chr12:9904400-9905600	Enhancers	Primary T cells from cord blood	blood
21	chr12:9904400-9905600	Weak transcription	HUVEC	blood vessel
22	chr12:9904400-9913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:9904600-9905000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:9904600-9905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:9904600-9905200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:9904600-9905200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:9904600-9905400	Weak transcription	Fetal Thymus	thymus
28	chr12:9904600-9905600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:9904600-9905600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:9904600-9905800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:9904600-9905800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:9904600-9913400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
33	chr12:9904800-9905000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:9904800-9905200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:9904800-9905400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:9904800-9905400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:9904800-9905400	Weak transcription	Dnd41	blood
38	chr12:9904800-9907000	Weak transcription	Thymus	Thymus
39	chr12:9904800-9908800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:9904800-9908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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