Variant report

Variant	rs7040162
Chromosome Location	chr9:136783505-136783506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10993854	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993860	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428083	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2810503	0.83[EUR][1000 genomes]
rs55671655	0.87[EUR][1000 genomes]
rs55785906	0.87[EUR][1000 genomes]
rs55820454	0.90[EUR][1000 genomes]
rs72764805	0.87[EUR][1000 genomes]
rs7847503	0.87[EUR][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:91 , 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	chr9:136778800-136783800	Enhancers	Fetal Intestine Large	intestine
12	chr9:136778800-136785200	Genic enhancers	Fetal Intestine Small	intestine
13	chr9:136779200-136783800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:136779400-136784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:136779400-136785600	Enhancers	Placenta	Placenta
16	chr9:136780000-136783800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:136780600-136783600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:136780600-136783600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr9:136780600-136796800	Weak transcription	Ovary	ovary
20	chr9:136780800-136784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:136781000-136799400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:136781000-136800400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:136781200-136783600	Weak transcription	Spleen	Spleen
24	chr9:136781200-136783800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:136781200-136785800	Enhancers	Fetal Brain Male	brain
26	chr9:136781200-136787800	Enhancers	Pancreas	Pancrea
27	chr9:136781200-136798600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:136781200-136802200	Weak transcription	Hela-S3	cervix
29	chr9:136781200-136804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:136781400-136783800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:136781400-136783800	Enhancers	Brain Angular Gyrus	brain
32	chr9:136781400-136783800	Enhancers	Brain Substantia Nigra	brain
33	chr9:136781400-136784000	Enhancers	Brain Anterior Caudate	brain
34	chr9:136781400-136784000	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:136781400-136784400	Weak transcription	HSMM	muscle
36	chr9:136781400-136785400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:136781400-136786200	Enhancers	Fetal Muscle Trunk	muscle
38	chr9:136781400-136789400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr9:136781600-136783800	Enhancers	Brain Hippocampus Middle	brain
40	chr9:136781600-136784200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:136781600-136784400	Enhancers	Duodenum Mucosa	Duodenum
42	chr9:136781600-136785200	Enhancers	NH-A	brain
43	chr9:136781800-136783800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:136781800-136784800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:136781800-136785400	Enhancers	Fetal Lung	lung
46	chr9:136781800-136797000	Weak transcription	Esophagus	oesophagus
47	chr9:136782000-136783600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:136782000-136784600	Enhancers	HepG2	liver
49	chr9:136782000-136785000	Enhancers	Fetal Stomach	stomach
50	chr9:136782000-136793200	Weak transcription	HMEC	breast

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