Variant report

Variant	rs4707980
Chromosome Location	chr6:73362255-73362256
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73358114..73359943-chr6:73361641..73364070,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10805964	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10943042	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs10943044	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs10943046	0.88[ASN][1000 genomes]
rs12111265	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs12175038	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs12523691	0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs12528674	0.85[ASN][1000 genomes]
rs13213217	0.86[ASN][1000 genomes]
rs1543621	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs16882711	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17692121	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs1884090	0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2207265	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3734212	0.83[ASN][1000 genomes]
rs3936157	0.86[ASN][1000 genomes]
rs4706511	0.90[CHB][hapmap]
rs4707978	0.82[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4707981	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4707983	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs4707984	0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs4707985	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs6453600	0.81[CHB][hapmap]
rs67188382	0.84[ASN][1000 genomes]
rs67895524	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68141942	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6899573	0.86[ASN][1000 genomes]
rs6900054	0.86[ASN][1000 genomes]
rs6900100	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs6900103	0.82[ASN][1000 genomes]
rs6910780	0.81[CHB][hapmap]
rs6913237	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs6915647	0.90[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs6917707	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6922044	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6922479	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs6922837	0.86[CHB][hapmap]
rs6923028	0.86[CHB][hapmap]
rs6926943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6931363	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs6937158	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs6937341	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs7451091	0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs769133	0.83[CHB][hapmap];0.86[ASN][1000 genomes]
rs7742742	0.83[ASN][1000 genomes]
rs7749079	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7749264	0.95[ASN][1000 genomes]
rs7760979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7768117	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7771839	0.86[ASN][1000 genomes]
rs7772714	0.81[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7776102	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs867521	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs883631	0.81[ASN][1000 genomes]
rs883632	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9293894	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9293898	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9293899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9293902	0.81[CHB][hapmap]
rs9293904	0.86[CHB][hapmap]
rs9342961	0.86[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs9342962	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9351938	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs9360570	0.86[ASN][1000 genomes]
rs9360571	0.81[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs9360572	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs9360573	0.95[ASN][1000 genomes]
rs9360580	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9360584	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9360587	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9360588	0.91[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9442830	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9442831	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9442832	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9442834	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9442835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9442836	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9442837	0.81[CHB][hapmap]
rs9446734	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs9446735	0.92[ASN][1000 genomes]
rs9446739	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs9446740	0.86[CHB][hapmap]
rs993314	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3472802	chr6:73361866-73365223	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3472803	chr6:73361891-73365203	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3472804	chr6:73361891-73365203	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv823730	chr6:73361941-73365099	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
2	chr6:73358600-73362600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:73358800-73362600	Enhancers	HSMM	muscle
4	chr6:73358800-73362600	Enhancers	HSMMtube	muscle
5	chr6:73359600-73362800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:73359600-73373000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:73359600-73398800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr6:73359800-73386800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:73360400-73372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:73360600-73362400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr6:73360600-73362400	Enhancers	Osteobl	bone
12	chr6:73361000-73367200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:73361800-73362600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:73361800-73362600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:73361800-73362600	Enhancers	GM12878-XiMat	blood
16	chr6:73361800-73362800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:73361800-73367200	Weak transcription	NHEK	skin
18	chr6:73362000-73362400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:73362000-73362400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:73362000-73362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:73362000-73362600	Enhancers	Aorta	Aorta
22	chr6:73362000-73362600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:73362000-73363200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:73362200-73362400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:73362200-73362400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:73362200-73362400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:73362200-73362600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:73362200-73362600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:73362200-73362600	Enhancers	Psoas Muscle	Psoas
30	chr6:73362200-73362800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:73362200-73362800	Enhancers	Fetal Heart	heart

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