Variant report

Variant	rs831512
Chromosome Location	chr6:36975033-36975034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36952318..36954994-chr6:36973559..36976188,4	MCF-7	breast:
2	chr6:36960761..36964631-chr6:36974795..36978853,3	MCF-7	breast:
3	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
4	chr6:36952367..36954774-chr6:36974334..36977230,2	K562	blood:

Variant related genes	Relation type
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11967185	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1724088	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs4714032	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs831510	0.91[CHB][hapmap]
rs831513	0.80[MEX][hapmap]
rs9394395	0.95[CHB][hapmap];0.89[CHD][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs831512	PPARD	cis	cerebellum	SCAN
rs831512	PI16	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36972200-36976000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:36972800-36976000	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:36973000-36976000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:36973000-36976400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr6:36973200-36976600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:36973400-36975200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:36973400-36975400	Active TSS	Fetal Stomach	stomach
8	chr6:36973400-36975800	Active TSS	Fetal Muscle Leg	muscle
9	chr6:36973400-36976200	Active TSS	Adipose Nuclei	Adipose
10	chr6:36973400-36976200	Active TSS	Brain Anterior Caudate	brain
11	chr6:36973400-36976200	Active TSS	Brain Hippocampus Middle	brain
12	chr6:36973400-36976200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:36973400-36976200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr6:36973400-36976200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:36973400-36976200	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:36973600-36975200	Active TSS	Liver	Liver
17	chr6:36973600-36975600	Active TSS	Thymus	Thymus
18	chr6:36973600-36976800	Active TSS	Stomach Smooth Muscle	stomach
19	chr6:36973800-36975400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:36973800-36975400	Enhancers	Gastric	stomach
21	chr6:36973800-36975400	Active TSS	Spleen	Spleen
22	chr6:36973800-36975800	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:36974000-36975600	Enhancers	Esophagus	oesophagus
24	chr6:36974000-36975600	Enhancers	Stomach Mucosa	stomach
25	chr6:36974000-36975800	Active TSS	Colonic Mucosa	Colon
26	chr6:36974000-36976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:36974200-36975200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:36974200-36975200	Enhancers	Fetal Heart	heart
29	chr6:36974200-36975400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:36974200-36976200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:36974200-36976200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:36974200-36987000	Weak transcription	Right Atrium	heart
33	chr6:36974400-36975200	Enhancers	NHEK	skin
34	chr6:36974400-36975400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:36974400-36975400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:36974400-36975400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:36974400-36975400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:36974400-36975400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:36974400-36976400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:36974400-36976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:36974400-36977200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:36974400-36980800	Weak transcription	Lung	lung
43	chr6:36974600-36975400	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:36974600-36975800	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr6:36974600-36975800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:36974600-36976800	Active TSS	Duodenum Mucosa	Duodenum
47	chr6:36974800-36975200	Flanking Active TSS	Placenta	Placenta
48	chr6:36974800-36975400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:36974800-36975800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:36974800-36979400	Weak transcription	Pancreas	Pancrea

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