Variant report

Variant	rs707985
Chromosome Location	chr6:4048852-4048853
allele	C/T
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	chr6:4048830-4049021	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:4048809-4048996	K562	blood:	n/a	n/a
3	POLR2A	chr6:4048828-4048887	A549	lung:	n/a	n/a
4	POLR2A	chr6:4048635-4050195	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4047640..4049812-chr6:4050419..4052477,2	K562	blood:
2	chr6:4046276..4049820-chr6:4052310..4055937,3	K562	blood:

Variant related genes	Relation type
PRPF4B	TF binding region
ENSG00000145975	Chromatin interaction
ENSG00000112739	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12174184	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1408457	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1543355	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2181894	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2745451	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2745452	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs3747761	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3747762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3747763	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761787	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4466281	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4959916	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4959918	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4959919	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6900476	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6905475	0.84[ASN][1000 genomes]
rs6906467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6910519	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6914180	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6916982	0.93[ASN][1000 genomes]
rs6921738	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6924389	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6930892	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6933593	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6939049	1.00[JPT][hapmap]
rs6941706	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707984	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707987	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs707988	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73349780	0.86[ASN][1000 genomes]
rs7744603	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763233	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs853396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853397	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs853398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs853399	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs853400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs853402	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs853403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853404	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853409	0.83[ASN][1000 genomes]
rs853410	0.85[ASN][1000 genomes]
rs853411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs860477	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs860478	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9328215	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9328216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9392547	0.83[EUR][1000 genomes]
rs9392548	0.83[EUR][1000 genomes]
rs9405217	0.81[CEU][hapmap]
rs9405693	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs9405694	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs941443	0.93[ASN][1000 genomes]
rs942474	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9503893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1034223	chr6:4030708-4060347	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4022600-4049400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:4023000-4063600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:4023200-4064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:4023400-4071600	Weak transcription	Stomach Mucosa	stomach
5	chr6:4023800-4067000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:4024600-4059200	Strong transcription	Fetal Thymus	thymus
7	chr6:4027200-4058200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:4030600-4065800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:4030800-4059000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:4030800-4066600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:4031000-4059200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:4031000-4066400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:4031200-4066600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:4033400-4055200	Strong transcription	K562	blood
15	chr6:4033800-4054400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:4034000-4066800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:4035600-4063600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:4035600-4064200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr6:4035800-4051200	Strong transcription	Primary B cells from cord blood	blood
20	chr6:4035800-4052000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr6:4035800-4054400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:4035800-4057400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:4035800-4058400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:4035800-4058600	Strong transcription	Primary T cells from cord blood	blood
25	chr6:4035800-4064600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr6:4035800-4065000	Strong transcription	Dnd41	blood
27	chr6:4035800-4066000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr6:4035800-4066000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:4035800-4066200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:4036000-4058200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:4036000-4066600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:4036000-4066600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr6:4036400-4055200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:4036600-4055200	Strong transcription	NHEK	skin
35	chr6:4037200-4051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:4037200-4059400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:4037200-4066200	Strong transcription	Liver	Liver
38	chr6:4037400-4054200	Strong transcription	NH-A	brain
39	chr6:4037400-4055600	Strong transcription	Hela-S3	cervix
40	chr6:4037400-4058400	Strong transcription	HepG2	liver
41	chr6:4037400-4059400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:4037400-4065800	Strong transcription	Placenta	Placenta
43	chr6:4037600-4050400	Strong transcription	NHDF-Ad	bronchial
44	chr6:4037600-4053800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr6:4037600-4055400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:4037600-4066200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr6:4037600-4066400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:4037800-4058600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:4037800-4058600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:4037800-4058800	Strong transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links