Variant report

Variant	rs2061761
Chromosome Location	chr12:31721592-31721593
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31715871..31718697-chr12:31719904..31722778,2	K562	blood:
2	chr12:31476842..31478576-chr12:31720027..31722337,2	K562	blood:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction
ENSG00000177340	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1012154	0.81[CEU][hapmap]
rs11051456	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1150942	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150943	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150945	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150953	0.90[CEU][hapmap]
rs1150954	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150955	0.95[CEU][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150963	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259233	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259235	0.90[CEU][hapmap]
rs1259241	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259352	0.81[EUR][1000 genomes]
rs1259353	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259354	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259356	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259359	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259386	0.98[ASN][1000 genomes]
rs1259389	0.88[ASN][1000 genomes]
rs1259395	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1259405	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259409	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1259422	0.89[AFR][1000 genomes]
rs1259426	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1259430	0.84[CEU][hapmap]
rs1259435	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259437	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1259438	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259441	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1262390	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1271663	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1272773	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1542536	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1677154	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1677186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677187	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677189	0.80[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1677217	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716194	0.88[ASN][1000 genomes]
rs1716210	0.88[AMR][1000 genomes]
rs1716216	0.90[CEU][hapmap]
rs2374190	0.90[CEU][hapmap]
rs2568885	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568887	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2604052	0.98[ASN][1000 genomes]
rs2617178	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617191	0.90[CEU][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2617200	0.90[CEU][hapmap]
rs2682671	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2682674	0.86[ASN][1000 genomes]
rs2682677	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682679	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682680	0.83[ASN][1000 genomes]
rs2682686	0.81[EUR][1000 genomes]
rs2682695	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4312145	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs708212	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs708215	0.81[AMR][1000 genomes]
rs708217	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs792875	0.81[AMR][1000 genomes]
rs793148	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793149	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793150	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793158	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs793161	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs793171	0.90[CEU][hapmap]
rs793173	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793174	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793175	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793176	0.88[YRI][hapmap]
rs793177	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793186	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs793191	0.90[CEU][hapmap]
rs899159	0.98[ASN][1000 genomes]
rs976874	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv975410	chr12:31717422-31725241	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31696200-31722400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:31709200-31727600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:31709400-31722600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31710200-31723800	Weak transcription	Pancreas	Pancrea
5	chr12:31711000-31727400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:31712200-31723600	Weak transcription	NH-A	brain
7	chr12:31714200-31726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:31714200-31728600	Weak transcription	Psoas Muscle	Psoas
9	chr12:31715800-31723600	Weak transcription	Fetal Brain Female	brain
10	chr12:31716200-31723600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:31716200-31723600	Weak transcription	Fetal Heart	heart
12	chr12:31716400-31723600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:31716600-31724000	Weak transcription	Gastric	stomach
14	chr12:31716800-31722600	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:31718600-31723600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:31719000-31723800	Weak transcription	Left Ventricle	heart
17	chr12:31719000-31731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:31719600-31722000	Enhancers	A549	lung
19	chr12:31720000-31727600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:31720000-31731400	Weak transcription	Brain Germinal Matrix	brain
21	chr12:31720200-31727400	Weak transcription	Brain Anterior Caudate	brain
22	chr12:31720400-31721800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:31720400-31722600	Enhancers	Ovary	ovary
24	chr12:31720400-31723600	Weak transcription	NHLF	lung
25	chr12:31720600-31722400	Enhancers	HepG2	liver
26	chr12:31721000-31721600	Weak transcription	HSMM	muscle
27	chr12:31721000-31721600	Weak transcription	Osteobl	bone
28	chr12:31721000-31722000	Enhancers	Primary B cells from cord blood	blood
29	chr12:31721000-31722200	Weak transcription	Fetal Intestine Small	intestine
30	chr12:31721000-31724000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:31721000-31726400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:31721200-31721600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:31721200-31721600	Weak transcription	Hela-S3	cervix
34	chr12:31721400-31721600	Enhancers	Aorta	Aorta
35	chr12:31721400-31721800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:31721400-31721800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:31721400-31721800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:31721400-31721800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:31721400-31722000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:31721400-31722000	Flanking Active TSS	GM12878-XiMat	blood
41	chr12:31721400-31722800	Enhancers	Skeletal Muscle Female	skeletal muscle

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