Variant report

Variant	rs11615237
Chromosome Location	chr12:967172-967173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr12:966629-967260	SK-N-SH	brain:	n/a	n/a
2	FOS	chr12:966729-967311	MCF10A-Er-Src	breast:	n/a	n/a
3	FOSL2	chr12:966640-967236	A549	lung:	n/a	n/a
4	MAFK	chr12:966690-967179	IMR90	lung:	n/a	chr12:966982-966996 chr12:966986-966995
5	POLR2A	chr12:966630-967236	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF12	chr12:966567-967271	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr12:966568-967195	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr12:966621-967291	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr12:966585-967310	SK-N-SH	brain:	n/a	chr12:967075-967086 chr12:966797-966804 chr12:967147-967154
10	POLR2A	chr12:966733-967202	SK-N-SH	brain:	n/a	n/a
11	GATA1	chr12:966645-967237	PBDE	blood:	n/a	chr12:967075-967086 chr12:966797-966804 chr12:967147-967154
12	TEAD4	chr12:966614-967220	SK-N-SH	brain:	n/a	chr12:966655-966664
13	FOSL2	chr12:966618-967224	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr12:966577-967244	SK-N-SH	brain:	n/a	chr12:967075-967086 chr12:966797-966804 chr12:967147-967154
15	FOS	chr12:966677-967179	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr12:966843-967179	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr12:967040-967190	Caco-2	colon:	n/a	n/a
18	JUND	chr12:966618-967301	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:966246..968511-chr12:980385..983217,2	K562	blood:

Variant related genes	Relation type
WNK1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10774464	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774465	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774467	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849557	0.84[ASN][1000 genomes]
rs10849559	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849560	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849561	1.00[ASN][1000 genomes]
rs10849564	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064543	0.84[ASN][1000 genomes]
rs11064575	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608756	0.81[ASN][1000 genomes]
rs2158501	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240284	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489756	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137311	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727880	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298426	0.91[ASN][1000 genomes]
rs7305065	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311290	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311746	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314017	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959509	0.81[ASN][1000 genomes]
rs7963376	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
9	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	58 gene(s)	inside rSNPs	diseases
12	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
13	nsv1051590	chr12:722215-974773	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv541338	chr12:722215-974773	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv468956	chr12:737230-982321	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv556893	chr12:737230-982321	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
18	esv3693103	chr12:837113-971317	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv556898	chr12:850288-968489	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv556900	chr12:854331-968489	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
22	nsv898577	chr12:873890-969800	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv1042333	chr12:907975-1081509	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
24	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
25	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
26	nsv522901	chr12:922408-968489	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11615237	RAD52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:905400-970200	Weak transcription	Spleen	Spleen
2	chr12:914400-971000	Weak transcription	Right Ventricle	heart
3	chr12:916400-977200	Weak transcription	Gastric	stomach
4	chr12:928200-994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:933600-971400	Weak transcription	Fetal Brain Male	brain
6	chr12:934600-970200	Weak transcription	Colonic Mucosa	Colon
7	chr12:939600-967400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:939600-968800	Weak transcription	Lung	lung
9	chr12:939600-977000	Weak transcription	Pancreas	Pancrea
10	chr12:940000-969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:940400-969000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:940400-971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:944000-969800	Weak transcription	K562	blood
14	chr12:945200-971000	Weak transcription	Psoas Muscle	Psoas
15	chr12:957400-970400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:957600-970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:957600-970200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:958600-972000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:960800-970200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:960800-970800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:960800-974000	Weak transcription	Small Intestine	intestine
22	chr12:960800-977200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:961000-977000	Weak transcription	Aorta	Aorta
24	chr12:961000-980200	Weak transcription	Fetal Heart	heart
25	chr12:961200-970200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:962200-1002600	Strong transcription	Dnd41	blood
27	chr12:962200-1012400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:962600-969600	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:962600-970200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:962800-969000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:962800-974200	Strong transcription	Fetal Thymus	thymus
32	chr12:963200-970200	Weak transcription	Esophagus	oesophagus
33	chr12:963600-988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:964200-979000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:964200-1007600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:964600-1027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:965000-969600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:965000-970000	Weak transcription	Brain Germinal Matrix	brain
40	chr12:965000-980200	Weak transcription	Stomach Mucosa	stomach
41	chr12:965200-971800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:965200-979000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:965200-983800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:965400-967400	Weak transcription	Ovary	ovary
45	chr12:965400-967600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:965400-967800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:965800-967400	Genic enhancers	Rectal Smooth Muscle	rectum
48	chr12:965800-967400	Genic enhancers	HSMM	muscle
49	chr12:965800-967600	Enhancers	Colon Smooth Muscle	Colon
50	chr12:965800-976000	Strong transcription	Primary B cells from cord blood	blood

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