Variant report

Variant	rs831511
Chromosome Location	chr6:36976466-36976467
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	MAFK	chr6:36976366-36976601	IMR90	lung:	n/a	n/a
2	EBF1	chr6:36976354-36976542	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36952318..36954774-chr6:36975730..36977453,2	K562	blood:
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
FGD2	TF binding region
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1724088	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1753288	0.90[ASN][1000 genomes]
rs4714032	1.00[ASN][1000 genomes]
rs831510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394395	0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831511	FGD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36973200-36976600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr6:36973600-36976800	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:36974200-36987000	Weak transcription	Right Atrium	heart
4	chr6:36974400-36976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:36974400-36977200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:36974400-36980800	Weak transcription	Lung	lung
7	chr6:36974600-36976800	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:36974800-36979400	Weak transcription	Pancreas	Pancrea
9	chr6:36974800-36984600	Weak transcription	Fetal Thymus	thymus
10	chr6:36974800-36985000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:36975000-36985800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:36975200-36976600	Weak transcription	Liver	Liver
13	chr6:36975400-36976600	Weak transcription	Spleen	Spleen
14	chr6:36975400-36979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:36975400-36985400	Weak transcription	Right Ventricle	heart
16	chr6:36975400-36988600	Weak transcription	Gastric	stomach
17	chr6:36975600-36985800	Weak transcription	Stomach Mucosa	stomach
18	chr6:36975600-36988200	Weak transcription	Esophagus	oesophagus
19	chr6:36975600-36989600	Weak transcription	Thymus	Thymus
20	chr6:36975800-36977000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:36976000-36976600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
22	chr6:36976000-36976600	Flanking Active TSS	GM12878-XiMat	blood
23	chr6:36976000-36976800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:36976000-36977200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:36976000-36977400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:36976000-36985200	Weak transcription	Placenta	Placenta
27	chr6:36976000-36986200	Weak transcription	Colonic Mucosa	Colon
28	chr6:36976200-36976600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:36976200-36977400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:36976200-36979600	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr6:36976200-36983200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:36976200-36984800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:36976200-36985800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:36976200-36985800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:36976400-36976600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:36976400-36977000	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
37	chr6:36976400-36977400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links