Variant report

Variant	rs10947613
Chromosome Location	chr6:36572340-36572341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36513256..36514925-chr6:36570218..36572859,3	K562	blood:
2	chr6:36570219..36573404-chr6:36646918..36650255,3	K562	blood:
3	chr6:36510024..36516034-chr6:36569455..36577118,9	MCF-7	breast:
4	chr6:36571801..36574282-chr9:95049206..95050720,2	K562	blood:
5	chr6:36487170..36489368-chr6:36571173..36573299,2	MCF-7	breast:
6	chr6:36571817..36573634-chr6:36968977..36971484,2	K562	blood:
7	chr6:36571292..36573360-chr6:36588104..36591061,2	K562	blood:
8	chr6:36409175..36411337-chr6:36571136..36573196,4	K562	blood:
9	chr6:36571904..36574235-chr6:36647480..36649037,2	K562	blood:
10	chr6:36389514..36391373-chr6:36570790..36573256,2	K562	blood:
11	chr6:36525931..36527462-chr6:36570238..36572725,2	MCF-7	breast:
12	chr6:36571240..36574099-chr6:36691059..36693876,2	K562	blood:
13	chr6:36513256..36515069-chr6:36571359..36573828,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112078	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000112079	Chromatin interaction
ENSG00000263894	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10214849	0.84[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10223366	0.93[EUR][1000 genomes]
rs1076931	0.80[EUR][1000 genomes]
rs10807169	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10947614	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs10947615	0.87[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11756969	0.80[ASW][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.84[TSI][hapmap]
rs12153820	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12197590	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1406945	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs1812018	0.87[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1812019	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1812020	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2145048	0.87[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4713987	0.93[EUR][1000 genomes]
rs4713988	0.90[EUR][1000 genomes]
rs56144242	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60627328	0.93[EUR][1000 genomes]
rs61211228	0.89[EUR][1000 genomes]
rs671516	0.90[EUR][1000 genomes]
rs6913530	0.88[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap]
rs6937430	0.84[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72852340	0.80[EUR][1000 genomes]
rs73410251	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7344	0.87[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.80[ASN][1000 genomes]
rs7738559	0.85[AMR][1000 genomes]
rs7738561	0.85[AMR][1000 genomes]
rs7741888	0.87[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7743396	0.94[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs7747264	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7755461	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7759546	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7759778	0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7759933	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7760766	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7767296	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7771547	0.83[EUR][1000 genomes]
rs9296192	0.81[EUR][1000 genomes]
rs9296193	0.88[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs9349001	0.80[EUR][1000 genomes]
rs9357217	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9357219	0.87[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9366907	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9366908	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9366909	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9366911	0.84[CEU][hapmap];0.95[GIH][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs9368938	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9368940	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9368942	0.84[CEU][hapmap];0.98[GIH][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs9380577	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9380578	0.83[EUR][1000 genomes]
rs9380580	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9380582	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9394359	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394360	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9394362	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9394363	0.87[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36565400-36574200	Genic enhancers	Fetal Heart	heart
2	chr6:36566600-36577400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:36566800-36577800	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr6:36566800-36582800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:36567000-36574400	Genic enhancers	A549	lung
6	chr6:36567000-36580400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:36567600-36578400	Genic enhancers	Liver	Liver
8	chr6:36567800-36575600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:36568000-36574200	Genic enhancers	Rectal Smooth Muscle	rectum
10	chr6:36568000-36575200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr6:36568000-36576200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:36568000-36577800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:36568000-36581400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:36568200-36573000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr6:36568200-36573600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:36568200-36574200	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr6:36568200-36574200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
18	chr6:36568200-36574400	Strong transcription	Colonic Mucosa	Colon
19	chr6:36568200-36575200	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr6:36568200-36577400	Genic enhancers	NHEK	skin
21	chr6:36568200-36580200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:36568400-36575800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:36568600-36573600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:36568600-36574000	Genic enhancers	Colon Smooth Muscle	Colon
25	chr6:36568600-36574200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:36568600-36576000	Genic enhancers	Osteobl	bone
27	chr6:36568600-36576200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:36568600-36577600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:36568600-36578000	Genic enhancers	HepG2	liver
30	chr6:36568600-36584600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:36568800-36574000	Strong transcription	Fetal Kidney	kidney
32	chr6:36568800-36575400	Genic enhancers	Duodenum Mucosa	Duodenum
33	chr6:36568800-36581200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:36569000-36581600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:36569200-36574200	Genic enhancers	Adipose Nuclei	Adipose
36	chr6:36569200-36574200	Strong transcription	K562	blood
37	chr6:36569200-36574800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr6:36569200-36575600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:36569400-36572400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:36569400-36572800	Strong transcription	Brain Hippocampus Middle	brain
41	chr6:36569400-36572800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr6:36569400-36573000	Weak transcription	Right Atrium	heart
43	chr6:36569400-36573400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:36569400-36573800	Strong transcription	Fetal Brain Male	brain
45	chr6:36569400-36574000	Genic enhancers	Brain Germinal Matrix	brain
46	chr6:36569400-36574400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr6:36569400-36576000	Genic enhancers	NHLF	lung
48	chr6:36569400-36576200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:36569400-36576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:36569400-36581600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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