Variant report

Variant	rs10116423
Chromosome Location	chr9:136780550-136780551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136774078..136776587-chr9:136779650..136781604,3	MCF-7	breast:
2	chr9:136772619..136776422-chr9:136776725..136781488,5	K562	blood:
3	chr9:136779162..136780728-chr9:136807487..136809424,2	MCF-7	breast:
4	chr9:136737105..136739674-chr9:136778546..136781444,2	MCF-7	breast:
5	chr9:136757643..136759941-chr9:136779061..136782245,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10114092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10117330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10125207	1.00[ASN][1000 genomes]
rs10125572	1.00[ASN][1000 genomes]
rs10821538	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10993855	1.00[ASN][1000 genomes]
rs10993858	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10993859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10993867	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10993868	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12335977	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[ASN][1000 genomes]
rs73663862	1.00[AMR][1000 genomes]
rs9409867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
13	esv3422697	chr9:136778731-136783129	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3412806	chr9:136778981-136780979	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3436186	chr9:136779481-136780579	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136747600-136780800	Weak transcription	Right Atrium	heart
2	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
3	chr9:136758400-136781000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:136763200-136780800	Weak transcription	Hela-S3	cervix
5	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
6	chr9:136766600-136784400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:136771000-136780800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:136772600-136782200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:136774800-136802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:136776800-136780800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:136777000-136780600	Weak transcription	HMEC	breast
12	chr9:136777000-136783200	Enhancers	Fetal Brain Female	brain
13	chr9:136777000-136786200	Weak transcription	NHEK	skin
14	chr9:136777200-136780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:136777200-136780800	Enhancers	Brain Cingulate Gyrus	brain
16	chr9:136777400-136780800	Enhancers	Fetal Brain Male	brain
17	chr9:136777600-136781800	Enhancers	Liver	Liver
18	chr9:136777600-136786400	Weak transcription	Primary B cells from cord blood	blood
19	chr9:136777800-136781200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:136777800-136796600	Weak transcription	HUVEC	blood vessel
21	chr9:136778000-136780600	Enhancers	Brain Hippocampus Middle	brain
22	chr9:136778000-136781000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:136778000-136781600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:136778000-136785800	Enhancers	Fetal Muscle Leg	muscle
25	chr9:136778000-136791200	Weak transcription	GM12878-XiMat	blood
26	chr9:136778200-136780800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:136778400-136780800	Enhancers	Pancreas	Pancrea
28	chr9:136778400-136781400	Enhancers	Lung	lung
29	chr9:136778600-136782400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:136778600-136786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:136778800-136780800	Enhancers	Brain Anterior Caudate	brain
32	chr9:136778800-136780800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:136778800-136780800	Enhancers	NH-A	brain
34	chr9:136778800-136782000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:136778800-136783800	Enhancers	Fetal Intestine Large	intestine
36	chr9:136778800-136785200	Genic enhancers	Fetal Intestine Small	intestine
37	chr9:136779000-136780800	Enhancers	Brain Substantia Nigra	brain
38	chr9:136779000-136781400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:136779000-136781600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:136779000-136782400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:136779200-136780600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:136779200-136780800	Enhancers	Brain Angular Gyrus	brain
43	chr9:136779200-136780800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr9:136779200-136783800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:136779400-136780800	Weak transcription	HSMM	muscle
46	chr9:136779400-136781600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:136779400-136782000	Weak transcription	Fetal Stomach	stomach
48	chr9:136779400-136784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:136779400-136785600	Enhancers	Placenta	Placenta
50	chr9:136779600-136780600	Weak transcription	Fetal Kidney	kidney

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