Variant report

Variant	rs7750812
Chromosome Location	chr6:33598613-33598614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33596598..33599064-chr6:33678282..33680140,2	K562	blood:
2	chr6:33587615..33592788-chr6:33598465..33603336,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10947416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754015	0.80[AFR][1000 genomes]
rs1536043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794681	0.84[AFR][1000 genomes]
rs1794682	0.90[AFR][1000 genomes]
rs2395451	0.85[AFR][1000 genomes]
rs4711332	0.85[AFR][1000 genomes]
rs4713641	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713643	0.85[AFR][1000 genomes]
rs475982	0.81[AFR][1000 genomes]
rs494654	0.87[AFR][1000 genomes]
rs499384	0.91[AFR][1000 genomes]
rs578452	0.91[AFR][1000 genomes]
rs580247	0.82[AFR][1000 genomes]
rs6921216	0.85[AFR][1000 genomes]
rs6921825	0.85[AFR][1000 genomes]
rs7752930	0.85[AFR][1000 genomes]
rs7753712	0.91[AFR][1000 genomes]
rs7753829	0.91[AFR][1000 genomes]
rs7757391	0.85[AFR][1000 genomes]
rs7757722	0.85[AFR][1000 genomes]
rs7768401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772766	0.85[AFR][1000 genomes]
rs7775537	0.94[AFR][1000 genomes]
rs9348920	0.94[AFR][1000 genomes]
rs9368770	0.85[AFR][1000 genomes]
rs9394157	0.91[AFR][1000 genomes]
rs9469529	0.94[AFR][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	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33590200-33600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:33590400-33600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:33590400-33600400	Weak transcription	Psoas Muscle	Psoas
4	chr6:33591000-33599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:33591000-33600000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:33591000-33600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:33591000-33600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:33591000-33600600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:33591000-33600600	Weak transcription	Osteobl	bone
10	chr6:33591200-33600800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:33591800-33600200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:33592000-33600200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:33592000-33600400	Genic enhancers	Fetal Intestine Small	intestine
14	chr6:33592200-33600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:33592200-33600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:33592400-33598800	Genic enhancers	Hela-S3	cervix
17	chr6:33592400-33600400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:33592600-33599800	Weak transcription	Pancreas	Pancrea
19	chr6:33592600-33600200	Weak transcription	HepG2	liver
20	chr6:33592600-33600800	Weak transcription	HUVEC	blood vessel
21	chr6:33593000-33600200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:33594400-33600200	Weak transcription	NHLF	lung
23	chr6:33595000-33600400	Enhancers	Stomach Mucosa	stomach
24	chr6:33595200-33600600	Genic enhancers	NHEK	skin
25	chr6:33595600-33599800	Weak transcription	HMEC	breast
26	chr6:33595600-33600200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:33595600-33600200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:33595800-33598800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:33595800-33600200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr6:33595800-33600200	Weak transcription	Dnd41	blood
31	chr6:33596000-33598800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:33596200-33599000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:33596200-33600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:33596200-33600200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:33596200-33600200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:33596200-33600600	Weak transcription	Primary B cells from cord blood	blood
37	chr6:33596400-33598800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:33596400-33598800	Enhancers	Primary T cells from cord blood	blood
39	chr6:33596400-33599800	Weak transcription	NHDF-Ad	bronchial
40	chr6:33596400-33600000	Weak transcription	Left Ventricle	heart
41	chr6:33596400-33600000	Weak transcription	K562	blood
42	chr6:33596400-33600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:33596400-33600200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:33596400-33600200	Weak transcription	A549	lung
45	chr6:33596600-33600000	Weak transcription	HSMM	muscle
46	chr6:33596600-33600200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:33596600-33600200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:33596600-33600600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:33596600-33601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:33596800-33599000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links