Variant report

Variant	rs9462242
Chromosome Location	chr6:36875883-36875884
allele	C/T
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	chr6:36872618..36878206-chr6:36882033..36886554,6	K562	blood:
2	chr6:36875857..36878206-chr6:36884249..36886554,2	K562	blood:
3	chr6:36873016..36874833-chr6:36874894..36877629,2	K562	blood:
4	chr6:36853624..36858239-chr6:36874553..36878207,6	K562	blood:
5	chr6:36867430..36871951-chr6:36875008..36877997,4	K562	blood:
6	chr6:36872207..36874617-chr6:36875523..36877749,2	MCF-7	breast:
7	chr6:36841707..36844082-chr6:36873822..36876086,2	K562	blood:
8	chr6:36853581..36857418-chr6:36873460..36876279,5	K562	blood:
9	chr6:36875559..36878627-chr6:36879795..36881810,3	K562	blood:
10	chr6:36875356..36877427-chr6:36898111..36899738,2	K562	blood:
11	chr6:36874669..36878220-chr6:36879029..36882017,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137168	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10080913	1.00[EUR][1000 genomes]
rs1405068	1.00[EUR][1000 genomes]
rs57023725	1.00[EUR][1000 genomes]
rs57275916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57680472	1.00[EUR][1000 genomes]
rs58065571	1.00[AMR][1000 genomes]
rs58376164	1.00[EUR][1000 genomes]
rs58821443	1.00[AMR][1000 genomes]
rs59341304	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61140519	1.00[EUR][1000 genomes]
rs6900666	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6927474	1.00[EUR][1000 genomes]
rs6931297	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6931465	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6932579	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6932672	1.00[AMR][1000 genomes]
rs6932789	1.00[EUR][1000 genomes]
rs73416263	1.00[AMR][1000 genomes]
rs73416275	1.00[AMR][1000 genomes]
rs73420361	1.00[EUR][1000 genomes]
rs73420362	1.00[EUR][1000 genomes]
rs73420393	1.00[EUR][1000 genomes]
rs73732090	1.00[EUR][1000 genomes]
rs73732102	1.00[EUR][1000 genomes]
rs7752720	1.00[EUR][1000 genomes]
rs9296202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462244	1.00[EUR][1000 genomes]
rs9462245	1.00[EUR][1000 genomes]
rs9462246	1.00[EUR][1000 genomes]
rs9462247	1.00[EUR][1000 genomes]
rs9470433	1.00[EUR][1000 genomes]
rs9470435	1.00[EUR][1000 genomes]
rs9470436	1.00[EUR][1000 genomes]
rs9470437	1.00[EUR][1000 genomes]
rs9470438	1.00[EUR][1000 genomes]
rs9470446	1.00[EUR][1000 genomes]
rs9688391	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9688402	0.83[AFR][1000 genomes];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	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	chr6:36854200-36881000	Weak transcription	Gastric	stomach
2	chr6:36854200-36887400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:36854400-36893000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:36854800-36881000	Weak transcription	A549	lung
5	chr6:36854800-36882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:36854800-36884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:36855400-36881000	Weak transcription	Small Intestine	intestine
8	chr6:36859600-36879400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:36861200-36879000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:36864600-36881200	Strong transcription	Fetal Intestine Small	intestine
11	chr6:36865400-36876600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr6:36866000-36876800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:36866000-36877200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:36866200-36876800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:36866200-36877600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr6:36866200-36878400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:36866200-36896400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:36866400-36877800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:36866600-36876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:36866600-36876200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:36866600-36878400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr6:36866600-36878400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:36866800-36876000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:36866800-36881600	Strong transcription	Fetal Intestine Large	intestine
25	chr6:36867000-36897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:36868600-36882000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:36869600-36876800	Strong transcription	Adipose Nuclei	Adipose
28	chr6:36869600-36877400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:36869800-36876000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:36869800-36878400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:36869800-36881400	Strong transcription	HepG2	liver
32	chr6:36870600-36882000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:36870600-36882000	Weak transcription	Fetal Kidney	kidney
34	chr6:36870800-36889400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:36871000-36879400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:36871000-36879800	Weak transcription	HMEC	breast
37	chr6:36871000-36888400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:36871200-36882000	Weak transcription	Hela-S3	cervix
39	chr6:36871400-36876800	Genic enhancers	Fetal Thymus	thymus
40	chr6:36871600-36876800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:36871600-36878400	Strong transcription	Primary B cells from cord blood	blood
42	chr6:36871800-36876800	Enhancers	Ovary	ovary
43	chr6:36872000-36876800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr6:36872400-36879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:36872600-36878800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:36872800-36879800	Weak transcription	HSMMtube	muscle
47	chr6:36873000-36876400	Enhancers	Brain Substantia Nigra	brain
48	chr6:36873000-36876800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:36873200-36876600	Enhancers	Brain Angular Gyrus	brain
50	chr6:36873200-36876800	Enhancers	Cortex derived primary cultured neurospheres	brain

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