Variant report

Variant	rs7316376
Chromosome Location	chr12:32178900-32178901
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	chr12:32173013..32175537-chr12:32177292..32179791,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10466761	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10466825	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10844094	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844098	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12230201	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12230226	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12303358	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12309730	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12312421	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12426455	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58747732	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7297111	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73304470	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7316376	CTSC	trans	lymphoblastoid	seeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32154800-32179400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:32156200-32179000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:32166000-32186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32166400-32184200	Weak transcription	Ovary	ovary
5	chr12:32171800-32181000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:32176600-32179000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:32177400-32180000	Weak transcription	Gastric	stomach
8	chr12:32177600-32181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:32177800-32179000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:32177800-32179200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:32177800-32179200	Enhancers	Dnd41	blood
12	chr12:32177800-32180200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:32177800-32180200	Enhancers	Fetal Thymus	thymus
14	chr12:32177800-32181400	Enhancers	Primary T cells from cord blood	blood
15	chr12:32178000-32179600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:32178000-32179600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:32178000-32180000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:32178000-32180000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:32178000-32180200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:32178000-32180200	Enhancers	Thymus	Thymus
21	chr12:32178000-32180400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:32178000-32181200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:32178000-32181400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:32178200-32180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:32178200-32180000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:32178200-32181400	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:32178200-32184200	Weak transcription	Fetal Lung	lung
28	chr12:32178400-32179000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:32178400-32179000	Enhancers	GM12878-XiMat	blood
30	chr12:32178400-32179000	Enhancers	K562	blood
31	chr12:32178400-32179200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:32178400-32179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:32178400-32180000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:32178400-32180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:32178400-32180000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:32178400-32182000	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:32178400-32184200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:32178600-32179800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:32178600-32180000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:32178800-32179400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:32178800-32179600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links