Variant report

Variant	rs10993858
Chromosome Location	chr9:136784043-136784044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136743319..136745833-chr9:136783680..136785234,2	MCF-7	breast:
2	chr9:136701715..136704357-chr9:136781966..136784571,2	MCF-7	breast:
3	chr9:136738615..136741064-chr9:136782245..136785156,2	MCF-7	breast:
4	chr9:136776944..136779401-chr9:136782904..136785015,2	MCF-7	breast:
5	chr9:136781852..136785790-chr9:136856323..136859841,3	MCF-7	breast:
6	chr9:136782252..136784274-chr9:136786342..136788595,2	K562	blood:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10114092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116423	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10117330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125572	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12335977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428119	1.00[AMR][1000 genomes]
rs2428120	1.00[AMR][1000 genomes]
rs2428121	1.00[AMR][1000 genomes]
rs2486349	1.00[AMR][1000 genomes]
rs2486352	1.00[AMR][1000 genomes]
rs2488562	1.00[AMR][1000 genomes]
rs2502733	1.00[AMR][1000 genomes]
rs2502753	1.00[AMR][1000 genomes]
rs2502764	1.00[AMR][1000 genomes]
rs2510236	1.00[AMR][1000 genomes]
rs2993799	1.00[AMR][1000 genomes]
rs3003585	1.00[AMR][1000 genomes]
rs55950463	1.00[AMR][1000 genomes]
rs55977312	1.00[AMR][1000 genomes]
rs56908632	1.00[AMR][1000 genomes]
rs59975587	1.00[AMR][1000 genomes]
rs73662309	1.00[AMR][1000 genomes]
rs73662310	1.00[AMR][1000 genomes]
rs73662321	1.00[AMR][1000 genomes]
rs73662347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73663862	1.00[AMR][1000 genomes]
rs9409867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv894127	chr9:136747832-136811772	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1832030	chr9:136753246-136785840	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1829795	chr9:136753246-136787253	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv615739	chr9:136761938-136790282	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv466625	chr9:136762800-136787972	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv615740	chr9:136762800-136787972	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
2	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
3	chr9:136766600-136784400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:136774800-136802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:136777000-136786200	Weak transcription	NHEK	skin
6	chr9:136777600-136786400	Weak transcription	Primary B cells from cord blood	blood
7	chr9:136777800-136796600	Weak transcription	HUVEC	blood vessel
8	chr9:136778000-136785800	Enhancers	Fetal Muscle Leg	muscle
9	chr9:136778000-136791200	Weak transcription	GM12878-XiMat	blood
10	chr9:136778600-136786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:136778800-136785200	Genic enhancers	Fetal Intestine Small	intestine
12	chr9:136779400-136784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:136779400-136785600	Enhancers	Placenta	Placenta
14	chr9:136780600-136796800	Weak transcription	Ovary	ovary
15	chr9:136780800-136784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:136781000-136799400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:136781000-136800400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:136781200-136785800	Enhancers	Fetal Brain Male	brain
19	chr9:136781200-136787800	Enhancers	Pancreas	Pancrea
20	chr9:136781200-136798600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:136781200-136802200	Weak transcription	Hela-S3	cervix
22	chr9:136781200-136804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:136781400-136784400	Weak transcription	HSMM	muscle
24	chr9:136781400-136785400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:136781400-136786200	Enhancers	Fetal Muscle Trunk	muscle
26	chr9:136781400-136789400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:136781600-136784200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:136781600-136784400	Enhancers	Duodenum Mucosa	Duodenum
29	chr9:136781600-136785200	Enhancers	NH-A	brain
30	chr9:136781800-136784800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr9:136781800-136785400	Enhancers	Fetal Lung	lung
32	chr9:136781800-136797000	Weak transcription	Esophagus	oesophagus
33	chr9:136782000-136784600	Enhancers	HepG2	liver
34	chr9:136782000-136785000	Enhancers	Fetal Stomach	stomach
35	chr9:136782000-136793200	Weak transcription	HMEC	breast
36	chr9:136782000-136809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:136782400-136784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:136782400-136785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:136782400-136793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:136782600-136784400	Enhancers	NHLF	lung
41	chr9:136782600-136785000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:136782600-136785600	Enhancers	Lung	lung
43	chr9:136782800-136793800	Weak transcription	Gastric	stomach
44	chr9:136782800-136797200	Weak transcription	Osteobl	bone
45	chr9:136783400-136784400	Weak transcription	NHDF-Ad	bronchial
46	chr9:136783400-136785600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr9:136783400-136786000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:136783400-136786600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:136783400-136789800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:136783400-136797200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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