Variant report

Variant	rs4715627
Chromosome Location	chr6:56387657-56387658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56385896..56387722-chr6:56406237..56408892,2	MCF-7	breast:
2	chr6:56386785..56388815-chr6:56390586..56392837,2	MCF-7	breast:
3	chr6:56383107..56384935-chr6:56387446..56390248,2	K562	blood:
4	chr6:56386188..56388419-chr6:56391719..56395434,3	MCF-7	breast:
5	chr6:56379723..56396922-chr6:56400495..56411638,31	K562	blood:
6	chr6:56319049..56321408-chr6:56387396..56389873,2	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11753813	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs11756977	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758339	0.93[GIH][hapmap];0.88[MEX][hapmap]
rs11759493	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs12527139	0.87[EUR][1000 genomes]
rs13194746	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13219448	0.83[AMR][1000 genomes]
rs1535610	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1535612	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16887974	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17825773	0.83[MEX][hapmap]
rs2064591	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273972	0.93[GIH][hapmap];0.83[MEX][hapmap]
rs2273973	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs2273974	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2397226	0.82[JPT][hapmap]
rs2894837	0.83[MEX][hapmap]
rs4130060	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs4143827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143828	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4236139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236140	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4236141	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4236142	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4236143	0.86[EUR][1000 genomes]
rs4236144	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs4236145	0.87[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4283892	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs4329120	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4346846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454141	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4466244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4472350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4473850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4499917	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4712132	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4712133	0.91[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4715625	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs4715626	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4715630	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs4715631	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs594008	0.83[GIH][hapmap]
rs6459161	0.91[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap]
rs6904202	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6906792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6907917	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6911502	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs6914184	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6919608	1.00[ASW][hapmap];0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6922770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6939305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71549713	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs721475	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7741295	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs7743011	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7749370	0.84[ASN][1000 genomes]
rs7755361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7755573	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7758054	0.87[EUR][1000 genomes]
rs7759875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7760640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7760695	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7761281	0.89[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes]
rs7762629	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs9296848	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs9296849	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9296850	0.86[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9349826	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357921	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357922	0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9370533	0.95[CEU][hapmap]
rs9370534	0.82[JPT][hapmap]
rs9370535	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs9382635	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9396213	0.86[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap]
rs9396214	0.82[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap]
rs9396218	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9396220	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9464389	0.89[EUR][1000 genomes]
rs9475709	0.89[EUR][1000 genomes]
rs9475711	0.85[ASN][1000 genomes]
rs9475713	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475714	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475716	0.82[EUR][1000 genomes]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
2	chr6:56362400-56391200	Weak transcription	Esophagus	oesophagus
3	chr6:56362800-56400200	Weak transcription	Colonic Mucosa	Colon
4	chr6:56363000-56402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:56373000-56390800	Weak transcription	Placenta	Placenta
6	chr6:56374200-56390800	Weak transcription	Lung	lung
7	chr6:56374200-56391000	Weak transcription	Right Atrium	heart
8	chr6:56374400-56392000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:56374400-56396800	Weak transcription	Fetal Brain Female	brain
10	chr6:56374600-56390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:56374600-56391200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:56374600-56395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:56374600-56399600	Weak transcription	Fetal Thymus	thymus
14	chr6:56376400-56407200	Weak transcription	Gastric	stomach
15	chr6:56376600-56389800	Weak transcription	A549	lung
16	chr6:56377200-56404200	Weak transcription	K562	blood
17	chr6:56377800-56388000	Strong transcription	GM12878-XiMat	blood
18	chr6:56380400-56390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:56380600-56390400	Weak transcription	Stomach Mucosa	stomach
20	chr6:56380600-56401200	Weak transcription	Psoas Muscle	Psoas
21	chr6:56382000-56390400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:56382600-56390800	Weak transcription	Aorta	Aorta
23	chr6:56382600-56391000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:56382800-56388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:56382800-56390800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:56383200-56396400	Weak transcription	Brain Germinal Matrix	brain
27	chr6:56383200-56402400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:56383600-56388200	Weak transcription	NH-A	brain
29	chr6:56384000-56390800	Weak transcription	Right Ventricle	heart
30	chr6:56384400-56389000	Weak transcription	Osteobl	bone
31	chr6:56384400-56402200	Weak transcription	Small Intestine	intestine
32	chr6:56384600-56388600	Weak transcription	Ovary	ovary
33	chr6:56384600-56389200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:56384600-56389800	Weak transcription	Fetal Brain Male	brain
35	chr6:56384600-56390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:56384600-56390200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:56384600-56390400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:56384600-56390600	Weak transcription	HUVEC	blood vessel
39	chr6:56384600-56390800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:56384600-56390800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:56384600-56390800	Weak transcription	Pancreas	Pancrea
42	chr6:56384600-56391000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:56384800-56389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:56385200-56389400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:56385200-56390800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:56385400-56387800	Enhancers	HepG2	liver
47	chr6:56385400-56389600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:56385400-56390200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:56385600-56388800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:56385600-56391000	Enhancers	Rectal Smooth Muscle	rectum

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