Variant report

Variant	rs12664190
Chromosome Location	chr6:33648771-33648772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33648020..33651730-chr6:33656230..33658624,3	MCF-7	breast:
2	chr6:33644740..33654543-chr6:33656969..33664772,16	MCF-7	breast:
3	chr6:33645251..33648923-chr6:33649815..33652997,4	MCF-7	breast:
4	chr6:33392300..33395210-chr6:33647730..33650382,2	MCF-7	breast:
5	chr6:33587821..33589670-chr6:33648207..33649948,2	K562	blood:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000269490	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2296328	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2296331	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67854583	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9461896	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv602838	chr6:33624733-33650743	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv885771	chr6:33626717-33660143	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
2	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
3	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
4	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:33621400-33672600	Strong transcription	Dnd41	blood
8	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:33623200-33649000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:33624600-33664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:33629000-33662800	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:33630200-33651000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:33630400-33650800	Weak transcription	Ovary	ovary
14	chr6:33630400-33660800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr6:33631600-33667000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr6:33631800-33649400	Strong transcription	Pancreas	Pancrea
17	chr6:33631800-33661200	Weak transcription	Liver	Liver
18	chr6:33636600-33660600	Strong transcription	Colonic Mucosa	Colon
19	chr6:33636800-33660200	Strong transcription	Lung	lung
20	chr6:33636800-33661400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:33637000-33650000	Strong transcription	Primary T cells from cord blood	blood
22	chr6:33637200-33650400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:33637200-33650400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:33637400-33650400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:33637400-33661600	Strong transcription	Esophagus	oesophagus
26	chr6:33637600-33650000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:33637600-33650200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr6:33637800-33650000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:33637800-33650400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:33638000-33652200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:33638200-33659200	Weak transcription	Right Atrium	heart
32	chr6:33638800-33650800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:33639600-33659200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:33640000-33669200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:33641000-33650600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:33641000-33667800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:33641200-33649400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:33641200-33658600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:33641200-33659600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr6:33641200-33661600	Strong transcription	NHEK	skin
41	chr6:33641400-33649400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:33641400-33659200	Strong transcription	HMEC	breast
43	chr6:33641400-33660200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:33641400-33668000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:33641800-33661800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:33642400-33654000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:33642400-33659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:33642400-33660600	Weak transcription	Brain Germinal Matrix	brain
49	chr6:33642600-33650400	Weak transcription	Small Intestine	intestine
50	chr6:33643600-33654200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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