Variant report

Variant	rs9831706
Chromosome Location	chr3:99595960-99595961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:99594739-99596220	K562	blood:	n/a	n/a
2	ARID3A	chr3:99595928-99595983	HepG2	liver:	n/a	n/a
3	TAL1	chr3:99595941-99595986	K562	blood:	n/a	n/a
4	CHD1	chr3:99592586-99596081	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:99535897..99537944-chr3:99594142..99596963,2	K562	blood:
2	chr3:99595319..99596945-chr3:99612997..99615307,2	MCF-7	breast:
3	chr3:99595655..99597769-chr3:99630372..99633111,2	K562	blood:
4	chr3:99595513..99598055-chr3:99616729..99618510,2	K562	blood:
5	chr3:99575686..99577216-chr3:99595048..99597854,2	K562	blood:
6	chr3:99595085..99597152-chr3:99978986..99981326,2	K562	blood:
7	chr3:99595540..99598482-chr3:99638199..99641058,2	MCF-7	breast:

No data

Variant related genes	Relation type
FILIP1L	TF binding region
ENSG00000184220	Chromatin interaction
ENSG00000036054	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12330310	0.83[AFR][1000 genomes]
rs13315221	0.83[AFR][1000 genomes]
rs13323384	0.83[AFR][1000 genomes]
rs13327351	1.00[AFR][1000 genomes]
rs13353487	0.83[AFR][1000 genomes]
rs16841800	0.83[AFR][1000 genomes]
rs16841824	0.83[AFR][1000 genomes]
rs16841836	0.83[AFR][1000 genomes]
rs16846956	1.00[AFR][1000 genomes]
rs28368726	0.83[AFR][1000 genomes]
rs28463921	0.83[AFR][1000 genomes]
rs28508384	0.83[AFR][1000 genomes]
rs28816814	0.83[AFR][1000 genomes]
rs9809706	0.83[AFR][1000 genomes]
rs9810553	0.83[AFR][1000 genomes]
rs9816232	0.83[AFR][1000 genomes]
rs9820799	0.83[AFR][1000 genomes]
rs9824229	0.83[AFR][1000 genomes]
rs9825382	0.83[AFR][1000 genomes]
rs9825938	0.83[AFR][1000 genomes]
rs9828782	0.83[AFR][1000 genomes]
rs9830038	1.00[AFR][1000 genomes]
rs9833005	1.00[AFR][1000 genomes]
rs9835048	0.83[AFR][1000 genomes]
rs9837028	0.83[AFR][1000 genomes]
rs9837204	0.83[AFR][1000 genomes]
rs9837555	0.83[AFR][1000 genomes]
rs9841053	0.83[AFR][1000 genomes]
rs9841758	0.83[AFR][1000 genomes]
rs9843919	0.83[AFR][1000 genomes]
rs9844578	0.83[AFR][1000 genomes]
rs9844595	0.83[AFR][1000 genomes]
rs9849336	0.83[AFR][1000 genomes]
rs9849373	0.83[AFR][1000 genomes]
rs9851406	0.83[AFR][1000 genomes]
rs9851985	1.00[AFR][1000 genomes]
rs9852857	0.83[AFR][1000 genomes]
rs9860986	0.83[AFR][1000 genomes]
rs9862370	0.83[AFR][1000 genomes]
rs9868303	0.83[AFR][1000 genomes]
rs9871500	0.83[AFR][1000 genomes]
rs9875301	0.83[AFR][1000 genomes]
rs9883235	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99590200-99596000	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr3:99590600-99596400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr3:99591400-99596200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:99591600-99596000	Active TSS	Stomach Smooth Muscle	stomach
5	chr3:99591600-99596000	Active TSS	NHLF	lung
6	chr3:99591600-99596400	Active TSS	Fetal Muscle Leg	muscle
7	chr3:99591600-99596800	Active TSS	Aorta	Aorta
8	chr3:99592000-99596000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:99592000-99596000	Active TSS	NHDF-Ad	bronchial
10	chr3:99592400-99596000	Active TSS	Duodenum Mucosa	Duodenum
11	chr3:99592600-99596000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:99592600-99596000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:99593000-99596200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:99593400-99596000	Active TSS	K562	blood
15	chr3:99593800-99596200	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr3:99594600-99596000	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr3:99595200-99596000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:99595200-99596000	Flanking Active TSS	HUVEC	blood vessel
19	chr3:99595200-99602800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:99595400-99596000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr3:99595400-99596000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:99595400-99596000	Flanking Active TSS	NH-A	brain
23	chr3:99595400-99596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:99595400-99596600	Weak transcription	HMEC	breast
25	chr3:99595400-99597200	Enhancers	A549	lung
26	chr3:99595400-99599800	Weak transcription	Pancreas	Pancrea
27	chr3:99595400-99599800	Weak transcription	Spleen	Spleen
28	chr3:99595400-99600000	Weak transcription	Brain Angular Gyrus	brain
29	chr3:99595400-99600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:99595400-99602800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr3:99595400-99603000	Weak transcription	Stomach Mucosa	stomach
32	chr3:99595400-99603400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:99595400-99603400	Weak transcription	Small Intestine	intestine
34	chr3:99595400-99608400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:99595600-99596000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr3:99595600-99596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:99595600-99596000	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:99595600-99596200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr3:99595600-99596200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:99595600-99596200	Weak transcription	HSMM	muscle
41	chr3:99595600-99596400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:99595600-99596400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:99595600-99596600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:99595600-99597200	Enhancers	Osteobl	bone
45	chr3:99595600-99597800	Enhancers	GM12878-XiMat	blood
46	chr3:99595600-99597800	Enhancers	HSMMtube	muscle
47	chr3:99595600-99598800	Weak transcription	Fetal Stomach	stomach
48	chr3:99595600-99599200	Weak transcription	Brain Substantia Nigra	brain
49	chr3:99595600-99599800	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:99595600-99599800	Weak transcription	Psoas Muscle	Psoas

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