Variant report

Variant	rs7976779
Chromosome Location	chr12:67665968-67665969
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67664539..67666217-chr12:67712484..67714487,2	K562	blood:
2	chr12:67639415..67642144-chr12:67665487..67667188,2	MCF-7	breast:
3	chr12:67665523..67668331-chr12:67690936..67692642,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11176565	1.00[AMR][1000 genomes]
rs11176600	1.00[AMR][1000 genomes]
rs11176632	1.00[AMR][1000 genomes]
rs11176648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176649	1.00[AMR][1000 genomes]
rs12301230	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302266	1.00[AMR][1000 genomes]
rs12302524	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305775	1.00[AMR][1000 genomes]
rs12310041	1.00[AMR][1000 genomes]
rs12312066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312713	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316486	1.00[AMR][1000 genomes]
rs12319094	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322809	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377685	1.00[AMR][1000 genomes]
rs17854617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545106	1.00[AMR][1000 genomes]
rs28646880	1.00[AMR][1000 genomes]
rs28677001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314758	1.00[AMR][1000 genomes]
rs61685902	1.00[AMR][1000 genomes]
rs7298233	1.00[AMR][1000 genomes]
rs7967952	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7978475	1.00[AMR][1000 genomes]
rs9652023	1.00[AMR][1000 genomes]

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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67661800-67666000	Active TSS	NHLF	lung
2	chr12:67662200-67666200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:67662400-67666200	Active TSS	HMEC	breast
4	chr12:67664200-67666200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:67664200-67666200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:67664400-67666200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr12:67664400-67666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:67664400-67666600	Weak transcription	Lung	lung
9	chr12:67664400-67666600	Weak transcription	Small Intestine	intestine
10	chr12:67664400-67666600	Weak transcription	Spleen	Spleen
11	chr12:67664400-67666800	Enhancers	Brain Substantia Nigra	brain
12	chr12:67664400-67669000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:67664400-67669200	Weak transcription	Gastric	stomach
14	chr12:67664400-67669400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:67664600-67666200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:67664600-67666200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:67664600-67666200	Flanking Active TSS	Dnd41	blood
18	chr12:67664600-67666600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:67664800-67666600	Enhancers	Brain Hippocampus Middle	brain
21	chr12:67664800-67666800	Enhancers	Primary B cells from cord blood	blood
22	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
24	chr12:67665000-67666000	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:67665000-67666000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr12:67665000-67666000	Flanking Active TSS	A549	lung
27	chr12:67665000-67666000	Flanking Active TSS	Osteobl	bone
28	chr12:67665000-67666200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:67665000-67666200	Flanking Active TSS	K562	blood
30	chr12:67665200-67666000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:67665200-67666000	Enhancers	Brain Anterior Caudate	brain
32	chr12:67665200-67666200	Enhancers	Colon Smooth Muscle	Colon
33	chr12:67665200-67666200	Enhancers	Fetal Intestine Small	intestine
34	chr12:67665200-67666200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:67665200-67666200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:67665200-67666400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:67665200-67666400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:67665200-67666400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:67665200-67666400	Weak transcription	Left Ventricle	heart
40	chr12:67665200-67666400	Weak transcription	Ovary	ovary
41	chr12:67665200-67666400	Weak transcription	Pancreas	Pancrea
42	chr12:67665200-67666600	Weak transcription	Psoas Muscle	Psoas
43	chr12:67665200-67666800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:67665200-67666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:67665200-67666800	Enhancers	Adipose Nuclei	Adipose
46	chr12:67665200-67666800	Enhancers	Fetal Heart	heart
47	chr12:67665200-67667000	Weak transcription	Fetal Thymus	thymus
48	chr12:67665200-67667200	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:67665200-67667400	Weak transcription	Stomach Mucosa	stomach
50	chr12:67665200-67667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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