Variant report

Variant	rs12005762
Chromosome Location	chr9:136708820-136708821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136708328..136710097-chr9:136713788..136715580,2	MCF-7	breast:
2	chr9:136706828..136709602-chr9:136710306..136713075,3	MCF-7	breast:
3	chr9:136706030..136708990-chr9:136860281..136862454,2	MCF-7	breast:
4	chr9:136701985..136719064-chr9:136732605..136742545,35	MCF-7	breast:
5	chr9:136705845..136709816-chr9:136855790..136859235,6	MCF-7	breast:
6	chr9:136707781..136709506-chr9:136739982..136742386,2	MCF-7	breast:
7	chr9:136707416..136709082-chr9:136718802..136721246,2	MCF-7	breast:
8	chr9:136708649..136711470-chr9:136728033..136729956,2	MCF-7	breast:
9	chr9:136708244..136711057-chr9:136719535..136721439,2	MCF-7	breast:
10	chr9:136705778..136709995-chr9:136855858..136859716,5	MCF-7	breast:
11	chr9:136707571..136709465-chr9:136713544..136715969,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10821526	0.88[ASN][1000 genomes]
rs10993820	0.98[ASN][1000 genomes]
rs10993822	0.98[ASN][1000 genomes]
rs10993823	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993824	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993826	0.98[ASN][1000 genomes]
rs10993828	0.98[ASN][1000 genomes]
rs10993829	0.98[ASN][1000 genomes]
rs10993830	0.98[ASN][1000 genomes]
rs10993832	0.98[ASN][1000 genomes]
rs12000549	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341505	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12377799	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1557679	0.88[ASN][1000 genomes]
rs17663678	0.98[ASN][1000 genomes]
rs2073928	0.88[ASN][1000 genomes]
rs2073929	0.98[ASN][1000 genomes]
rs2073930	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2156323	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2260095	0.95[ASN][1000 genomes]
rs2261150	0.88[ASN][1000 genomes]
rs2428123	0.88[ASN][1000 genomes]
rs2428124	0.98[ASN][1000 genomes]
rs2428126	0.88[ASN][1000 genomes]
rs2428129	0.88[ASN][1000 genomes]
rs2486350	0.88[ASN][1000 genomes]
rs2486351	0.88[ASN][1000 genomes]
rs2502765	0.88[ASN][1000 genomes]
rs2510254	0.88[ASN][1000 genomes]
rs28436700	0.88[ASN][1000 genomes]
rs35711919	0.98[ASN][1000 genomes]
rs35776936	0.98[ASN][1000 genomes]
rs3819500	0.98[ASN][1000 genomes]
rs3819502	0.88[ASN][1000 genomes]
rs3819503	0.86[ASN][1000 genomes]
rs3819504	0.98[ASN][1000 genomes]
rs3819505	0.98[ASN][1000 genomes]
rs55646136	0.98[ASN][1000 genomes]
rs55939286	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56745684	0.88[ASN][1000 genomes]
rs56868628	0.86[ASN][1000 genomes]
rs58816065	0.88[ASN][1000 genomes]
rs67484139	0.98[ASN][1000 genomes]
rs72762854	0.98[ASN][1000 genomes]
rs72762864	0.98[ASN][1000 genomes]
rs7853626	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
2	chr9:136675400-136709400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:136686000-136709600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:136692000-136709800	Weak transcription	NH-A	brain
5	chr9:136697600-136709800	Weak transcription	Primary B cells from cord blood	blood
6	chr9:136698400-136718000	Weak transcription	Hela-S3	cervix
7	chr9:136699000-136709600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:136700000-136709400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:136700000-136709600	Weak transcription	Gastric	stomach
10	chr9:136700800-136709800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:136701000-136709800	Weak transcription	Brain Germinal Matrix	brain
12	chr9:136702600-136710000	Weak transcription	GM12878-XiMat	blood
13	chr9:136704200-136710200	Enhancers	Fetal Muscle Leg	muscle
14	chr9:136705000-136709200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:136705200-136710800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:136705200-136710800	Weak transcription	A549	lung
17	chr9:136705200-136711200	Genic enhancers	Fetal Intestine Small	intestine
18	chr9:136705400-136709000	Weak transcription	Fetal Heart	heart
19	chr9:136705400-136709600	Weak transcription	HSMM	muscle
20	chr9:136705400-136709600	Weak transcription	HSMMtube	muscle
21	chr9:136705400-136726800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr9:136705600-136709800	Weak transcription	Right Atrium	heart
23	chr9:136705600-136709800	Weak transcription	NHLF	lung
24	chr9:136705600-136710000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:136705600-136710200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr9:136705600-136710200	Weak transcription	NHDF-Ad	bronchial
27	chr9:136705600-136711000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:136705600-136719200	Weak transcription	Fetal Kidney	kidney
29	chr9:136705800-136709400	Weak transcription	Left Ventricle	heart
30	chr9:136705800-136709800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:136705800-136709800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:136705800-136709800	Weak transcription	Osteobl	bone
33	chr9:136705800-136710200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:136705800-136721000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:136705800-136724400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:136705800-136726000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:136705800-136729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:136706000-136710800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:136706000-136726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:136706200-136709400	Weak transcription	Adipose Nuclei	Adipose
41	chr9:136706200-136712000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:136706400-136712400	Weak transcription	HepG2	liver
43	chr9:136706600-136710400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr9:136706600-136710600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:136706600-136714000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:136706800-136710400	Bivalent Enhancer	Placenta	Placenta
47	chr9:136707000-136709000	Enhancers	Pancreas	Pancrea
48	chr9:136707000-136710000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr9:136707000-136710600	Enhancers	Fetal Thymus	thymus
50	chr9:136707200-136709000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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