Variant report

Variant	rs9943796
Chromosome Location	chr12:51160612-51160613
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51160285..51163042-chr12:51178907..51180859,2	MCF-7	breast:
2	chr12:50497524..50499290-chr12:51157685..51160627,2	MCF-7	breast:
3	chr12:51156114..51160622-chr12:51418657..51421869,11	K562	blood:
4	chr12:50897312..50899880-chr12:51160076..51161982,2	K562	blood:
5	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
6	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
7	chr12:51159221..51162164-chr12:51418632..51421026,2	MCF-7	breast:
8	chr12:51158399..51160694-chr12:51565412..51567742,2	K562	blood:
9	chr12:51159281..51161379-chr12:51202424..51204535,2	K562	blood:
10	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167588	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10876079	1.00[EUR][1000 genomes]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11833478	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2359188	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2554869	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2684895	1.00[EUR][1000 genomes]
rs2684896	1.00[EUR][1000 genomes]
rs2684897	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2684907	1.00[EUR][1000 genomes]
rs2684909	1.00[EUR][1000 genomes]
rs2700476	1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	1.00[EUR][1000 genomes]
rs2700483	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731441	1.00[EUR][1000 genomes]
rs2731444	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768908	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768919	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6421169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs829121	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs829136	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
4	nsv899077	chr12:51160612-51188397	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159000-51161800	Weak transcription	Gastric	stomach
2	chr12:51159000-51175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
4	chr12:51159200-51160800	Enhancers	Liver	Liver
5	chr12:51159200-51166400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:51159200-51166600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:51159200-51174600	Weak transcription	Lung	lung
8	chr12:51159200-51179400	Weak transcription	Aorta	Aorta
9	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:51159400-51160800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:51159400-51160800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:51159400-51160800	Enhancers	Brain Angular Gyrus	brain
13	chr12:51159400-51161000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:51159400-51161000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:51159400-51162000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:51159400-51162000	Enhancers	Placenta	Placenta
17	chr12:51159400-51163200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:51159400-51163400	Flanking Active TSS	Hela-S3	cervix
19	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:51159600-51161200	Weak transcription	Colonic Mucosa	Colon
21	chr12:51159600-51161600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:51159600-51163000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:51159600-51165000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:51159600-51166600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:51159800-51160800	Enhancers	Primary T cells from cord blood	blood
27	chr12:51159800-51160800	Enhancers	Brain Germinal Matrix	brain
28	chr12:51159800-51161000	Enhancers	Ovary	ovary
29	chr12:51159800-51161000	Enhancers	Thymus	Thymus
30	chr12:51159800-51161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:51159800-51161800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:51159800-51162400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51159800-51163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:51159800-51163600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:51159800-51164000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:51159800-51164400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:51159800-51165200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:51159800-51173800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:51159800-51176200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:51159800-51178200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:51159800-51178400	Weak transcription	NHDF-Ad	bronchial
42	chr12:51159800-51180600	Weak transcription	Fetal Lung	lung
43	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
44	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
45	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:51160000-51160800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:51160000-51160800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:51160000-51160800	Enhancers	Dnd41	blood
49	chr12:51160000-51161000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:51160000-51161400	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links