Variant report

Variant	rs12191780
Chromosome Location	chr6:36873344-36873345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36872618..36878206-chr6:36882033..36886554,6	K562	blood:
2	chr6:36871983..36875011-chr6:36953763..36955821,3	MCF-7	breast:
3	chr6:36871006..36873837-chr6:36953580..36955974,2	K562	blood:
4	chr6:36872207..36874617-chr6:36875523..36877749,2	MCF-7	breast:
5	chr6:36873016..36874833-chr6:36874894..36877629,2	K562	blood:
6	chr6:36865210..36867314-chr6:36872831..36875830,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10456445	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456447	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10456448	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10947646	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947648	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11964396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12111266	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12111291	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12193721	0.82[ASN][1000 genomes]
rs12195012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12211502	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12215873	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12524018	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12524422	0.82[CEU][hapmap]
rs12524649	1.00[ASN][1000 genomes]
rs12525180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525540	0.82[CEU][hapmap]
rs12529199	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12529769	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17374068	0.81[CEU][hapmap]
rs17552561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272192	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41408445	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4348312	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4714013	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs4714022	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55928881	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56240344	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56302344	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66474948	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846078	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7745555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7762601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36854200-36873600	Weak transcription	Aorta	Aorta
2	chr6:36854200-36881000	Weak transcription	Gastric	stomach
3	chr6:36854200-36887400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:36854400-36893000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:36854800-36875200	Weak transcription	Esophagus	oesophagus
6	chr6:36854800-36881000	Weak transcription	A549	lung
7	chr6:36854800-36882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:36854800-36884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:36855400-36881000	Weak transcription	Small Intestine	intestine
10	chr6:36857000-36874400	Weak transcription	Pancreas	Pancrea
11	chr6:36859600-36879400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr6:36861200-36879000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr6:36862000-36875800	Strong transcription	Dnd41	blood
14	chr6:36864600-36881200	Strong transcription	Fetal Intestine Small	intestine
15	chr6:36865400-36874200	Strong transcription	Fetal Muscle Leg	muscle
16	chr6:36865400-36876600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:36866000-36875800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:36866000-36876800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:36866000-36877200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:36866200-36874200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr6:36866200-36876800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:36866200-36877600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:36866200-36878400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:36866200-36896400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:36866400-36877800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:36866600-36876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:36866600-36876200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:36866600-36878400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr6:36866600-36878400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:36866800-36874400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:36866800-36876000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:36866800-36881600	Strong transcription	Fetal Intestine Large	intestine
33	chr6:36867000-36874400	Strong transcription	Thymus	Thymus
34	chr6:36867000-36897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:36868600-36882000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:36869600-36873400	Strong transcription	Brain Anterior Caudate	brain
37	chr6:36869600-36873600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:36869600-36874000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:36869600-36874000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:36869600-36874800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:36869600-36875600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:36869600-36875600	Strong transcription	Placenta	Placenta
43	chr6:36869600-36876800	Strong transcription	Adipose Nuclei	Adipose
44	chr6:36869600-36877400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:36869800-36873400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr6:36869800-36873600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:36869800-36873800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:36869800-36874000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:36869800-36874000	Strong transcription	Osteobl	bone
50	chr6:36869800-36874400	Strong transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links