Variant report

Variant	rs35717950
Chromosome Location	chr12:32121827-32121828
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	chr12:32121076..32122649-chr12:32124275..32127176,2	K562	blood:
2	chr12:32107327..32109735-chr12:32121276..32123265,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10844088	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051700	0.93[AMR][1000 genomes]
rs11051707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051708	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051718	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051723	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11612457	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368692	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827942	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407118	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511352	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488022	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298088	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298803	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958057	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32113800-32123400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:32114000-32126200	Weak transcription	HSMM	muscle
3	chr12:32114000-32150800	Weak transcription	NHLF	lung
4	chr12:32114200-32124800	Weak transcription	HSMMtube	muscle
5	chr12:32114400-32123400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:32114400-32124200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:32114400-32132200	Weak transcription	NH-A	brain
8	chr12:32114600-32123200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:32114600-32123200	Weak transcription	NHDF-Ad	bronchial
10	chr12:32114600-32123400	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr12:32114800-32123200	Weak transcription	Colonic Mucosa	Colon
12	chr12:32114800-32134000	Weak transcription	HMEC	breast
13	chr12:32115000-32123800	Weak transcription	Osteobl	bone
14	chr12:32115000-32126200	Weak transcription	NHEK	skin
15	chr12:32115400-32124800	Weak transcription	Stomach Mucosa	stomach
16	chr12:32115600-32122600	Weak transcription	Hela-S3	cervix
17	chr12:32115600-32124800	Weak transcription	HepG2	liver
18	chr12:32115800-32124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr12:32117800-32123200	Weak transcription	Fetal Kidney	kidney
22	chr12:32118000-32122000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:32118000-32123200	Weak transcription	Fetal Brain Male	brain
24	chr12:32118200-32122000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:32118200-32122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:32118200-32124400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:32118600-32122200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:32118800-32122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:32119200-32122200	Enhancers	Liver	Liver
30	chr12:32119600-32122200	Weak transcription	Placenta	Placenta
31	chr12:32119600-32123200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:32119600-32123200	Weak transcription	HUVEC	blood vessel
33	chr12:32119800-32123400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:32120000-32123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:32120000-32123200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:32120000-32123400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:32120000-32124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:32120000-32126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:32120000-32126200	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:32120000-32130200	ZNF genes & repeats	Dnd41	blood
41	chr12:32120200-32122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:32120200-32122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:32120200-32122400	Genic enhancers	Primary B cells from cord blood	blood
44	chr12:32120200-32122800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:32120200-32123000	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr12:32120200-32123200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:32120200-32123200	Weak transcription	Brain Anterior Caudate	brain
48	chr12:32120200-32123400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:32120200-32124000	Weak transcription	Esophagus	oesophagus
50	chr12:32120200-32124000	Weak transcription	Rectal Smooth Muscle	rectum

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