Variant report

Variant	rs1883324
Chromosome Location	chr6:11806433-11806434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:11805739-11807125	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:11805016-11807694	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:11804413..11807277-chr6:11809365..11811580,3	K562	blood:
2	chr6:11804488..11807450-chr6:12008603..12011488,3	MCF-7	breast:
3	chr6:11801584..11803967-chr6:11804359..11806565,2	K562	blood:
4	chr6:11803840..11806433-chr6:11820029..11821651,2	K562	blood:

Variant related genes	Relation type
ENSG00000234427	TF binding region
ENSG00000095951	Chromatin interaction
ENSG00000234427	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014972	0.80[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes]
rs10947579	0.94[CEU][hapmap];0.81[CHB][hapmap]
rs16871833	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1883325	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1883326	0.95[CEU][hapmap]
rs2143715	0.95[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap]
rs2179742	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3950186	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4308554	0.90[CEU][hapmap];0.83[CHB][hapmap]
rs4404760	0.95[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap]
rs6910363	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6914007	0.94[ASN][1000 genomes]
rs6936286	0.95[CEU][hapmap];0.83[CHB][hapmap];0.92[EUR][1000 genomes]
rs6941812	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6942235	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7739256	0.86[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.97[EUR][1000 genomes]
rs7743245	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.95[ASN][1000 genomes]
rs7766152	0.97[EUR][1000 genomes]
rs9368892	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs9470184	0.95[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs9470216	0.86[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs978565	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11796400-11810400	Weak transcription	Placenta	Placenta
2	chr6:11799200-11809800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:11802800-11809200	Weak transcription	Hela-S3	cervix
4	chr6:11803400-11806600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:11803600-11806800	Weak transcription	Lung	lung
6	chr6:11803800-11807000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:11803800-11809600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:11804000-11807200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:11804400-11806600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:11804400-11806600	Enhancers	Colonic Mucosa	Colon
11	chr6:11804400-11807000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:11804600-11807000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:11804800-11806600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:11804800-11806800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:11804800-11807000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:11805000-11807200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:11805000-11807200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:11805000-11809800	Weak transcription	Fetal Lung	lung
19	chr6:11805000-11809800	Weak transcription	Osteobl	bone
20	chr6:11805000-11810400	Weak transcription	Right Atrium	heart
21	chr6:11805200-11807600	Enhancers	Dnd41	blood
22	chr6:11805200-11810200	Weak transcription	NH-A	brain
23	chr6:11805400-11806800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:11805400-11807400	Flanking Active TSS	NHEK	skin
25	chr6:11805400-11807600	Enhancers	Esophagus	oesophagus
26	chr6:11805400-11807600	Flanking Active TSS	HMEC	breast
27	chr6:11805400-11809800	Weak transcription	HSMMtube	muscle
28	chr6:11805400-11810200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:11805600-11806600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:11805600-11807000	Enhancers	Fetal Intestine Large	intestine
31	chr6:11805600-11808000	Enhancers	Fetal Thymus	thymus
32	chr6:11805800-11809800	Weak transcription	Stomach Mucosa	stomach
33	chr6:11806000-11807200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:11806200-11807400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr6:11806200-11807400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:11806200-11807400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:11806200-11808200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:11806200-11808600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:11806400-11806600	Enhancers	K562	blood
40	chr6:11806400-11806800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:11806400-11806800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr6:11806400-11807200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:11806400-11807400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:11806400-11807400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:11806400-11809600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:11806400-11809800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:11806400-11809800	Weak transcription	Fetal Intestine Small	intestine
48	chr6:11806400-11810600	Weak transcription	Placenta Amnion	Placenta Amnion

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