Variant report

Variant	rs783414
Chromosome Location	chr6:106966701-106966702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106955204..106959628-chr6:106966256..106969365,4	K562	blood:
2	chr6:106966221..106967730-chr6:107020396..107023333,2	K562	blood:
3	chr6:106915579..106917784-chr6:106966286..106969138,2	K562	blood:
4	chr6:106966393..106967911-chr6:106970523..106972546,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1111830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1613722	1.00[CHB][hapmap]
rs1616375	1.00[CHB][hapmap]
rs1676008	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1676010	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1676025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs1676028	1.00[CHB][hapmap]
rs1770718	1.00[CHB][hapmap]
rs1770721	1.00[CHB][hapmap]
rs1770722	1.00[CHB][hapmap]
rs1770723	0.83[EUR][1000 genomes]
rs1770733	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1799693	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2247335	1.00[CHB][hapmap]
rs4946762	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6902745	1.00[CHB][hapmap]
rs6906338	1.00[CEU][hapmap];0.98[AFR][1000 genomes]
rs783395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs783396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs783401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs783406	0.85[ASN][1000 genomes]
rs783416	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386565	1.00[CEU][hapmap];1.00[CHB][hapmap]

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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-106966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:106961000-106967800	Weak transcription	Esophagus	oesophagus
3	chr6:106961000-106981000	Weak transcription	Lung	lung
4	chr6:106961000-107001400	Weak transcription	Gastric	stomach
5	chr6:106961200-106968600	Weak transcription	Pancreas	Pancrea
6	chr6:106961400-106967000	Weak transcription	K562	blood
7	chr6:106961600-106967000	Weak transcription	HSMMtube	muscle
8	chr6:106962000-106972800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:106962200-106966800	Weak transcription	HSMM	muscle
10	chr6:106962200-106967000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:106962200-106967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:106962200-106967000	Weak transcription	Fetal Intestine Large	intestine
13	chr6:106962400-106966800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr6:106962400-106967000	Enhancers	Primary T cells from cord blood	blood
15	chr6:106962600-106966800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:106962600-106967400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:106962800-106966800	Weak transcription	NHLF	lung
18	chr6:106963000-106967000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:106963000-106967800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:106963200-106967000	Enhancers	Primary B cells from cord blood	blood
21	chr6:106963400-106967000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:106963400-106967000	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:106963400-106967000	Weak transcription	Adipose Nuclei	Adipose
24	chr6:106963400-106967000	Weak transcription	Liver	Liver
25	chr6:106963400-106967000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:106963400-106967000	Weak transcription	Hela-S3	cervix
27	chr6:106963400-106968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:106963400-106972800	Weak transcription	HUVEC	blood vessel
29	chr6:106963600-106966800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:106963600-106966800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:106964400-106968200	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr6:106964600-106967000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr6:106964600-106967200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:106964600-106972600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:106964800-106967000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:106964800-106967000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:106964800-106967400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:106964800-106967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:106964800-106967800	Weak transcription	Placenta	Placenta
40	chr6:106964800-106967800	Active TSS	GM12878-XiMat	blood
41	chr6:106964800-106973000	Weak transcription	Stomach Mucosa	stomach
42	chr6:106964800-106991000	Weak transcription	Spleen	Spleen
43	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
44	chr6:106965000-106967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:106965000-106967000	Weak transcription	HepG2	liver
46	chr6:106965000-106967600	Weak transcription	Fetal Intestine Small	intestine
47	chr6:106965200-106966800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:106965400-106967000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:106965400-106968800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:106965400-106970200	Flanking Active TSS	Dnd41	blood

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