Variant report

Variant	rs4715626
Chromosome Location	chr6:56381912-56381913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56374485..56377341-chr6:56380470..56384676,4	MCF-7	breast:
2	chr6:56379723..56396922-chr6:56400495..56411638,31	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:87)

rs_ID	r²[population]
rs11753813	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];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];0.88[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758339	0.93[GIH][hapmap];0.94[MEX][hapmap]
rs11759493	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs12527139	0.87[EUR][1000 genomes]
rs13194746	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13219448	0.81[AMR][1000 genomes]
rs1535610	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1535612	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16887974	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17825773	0.84[MEX][hapmap]
rs2064591	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273972	0.93[GIH][hapmap];0.84[MEX][hapmap]
rs2273973	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2273974	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2397226	0.82[JPT][hapmap]
rs2894837	0.89[MEX][hapmap]
rs4130060	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs4143827	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143828	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4236139	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.99[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];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[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	0.95[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];0.88[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs4283892	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs4329120	0.97[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];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4466244	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4472350	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4473850	0.88[AFR][1000 genomes];0.97[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];0.88[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4712132	0.87[CEU][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4712133	0.91[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4715625	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs4715627	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];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.97[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];0.88[MEX][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4715630	0.87[CEU][hapmap];0.89[GIH][hapmap];0.94[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];0.88[MEX][hapmap];0.95[TSI][hapmap];0.92[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];0.94[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];0.85[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];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6907917	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6911502	0.89[GIH][hapmap];0.94[MEX][hapmap]
rs6914184	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6919608	0.89[ASW][hapmap];0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.97[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];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6939305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71549713	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs721475	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7741295	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs7743011	0.82[AFR][1000 genomes];1.00[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];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7755573	0.83[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];0.81[YRI][hapmap];0.95[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];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7760695	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7761281	0.89[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.83[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];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs9296849	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9296850	0.86[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9349826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357921	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357922	0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9367688	0.80[AMR][1000 genomes]
rs9370533	0.95[CEU][hapmap]
rs9370534	0.82[JPT][hapmap]
rs9370535	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs9382635	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9396213	0.86[CEU][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap]
rs9396214	0.82[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap]
rs9396218	0.84[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	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9475711	0.85[ASN][1000 genomes]
rs9475713	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475714	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475716	0.82[EUR][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	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

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	chr6:56345000-56384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:56351800-56386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:56357000-56382600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:56357000-56383600	Strong transcription	NH-A	brain
6	chr6:56357000-56384000	Strong transcription	HSMM	muscle
7	chr6:56357200-56384200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:56360400-56382200	Strong transcription	Osteobl	bone
9	chr6:56362400-56391200	Weak transcription	Esophagus	oesophagus
10	chr6:56362600-56385800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:56362800-56400200	Weak transcription	Colonic Mucosa	Colon
12	chr6:56363000-56402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:56368400-56382400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:56370000-56382600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:56372200-56384200	Weak transcription	Hela-S3	cervix
16	chr6:56373000-56382800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:56373000-56390800	Weak transcription	Placenta	Placenta
18	chr6:56374200-56383400	Weak transcription	Right Ventricle	heart
19	chr6:56374200-56387000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:56374200-56390800	Weak transcription	Lung	lung
21	chr6:56374200-56391000	Weak transcription	Right Atrium	heart
22	chr6:56374400-56386400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:56374400-56392000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:56374400-56396800	Weak transcription	Fetal Brain Female	brain
25	chr6:56374600-56382000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:56374600-56383800	Weak transcription	Fetal Brain Male	brain
27	chr6:56374600-56390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:56374600-56391200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:56374600-56395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:56374600-56399600	Weak transcription	Fetal Thymus	thymus
31	chr6:56374800-56383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:56375000-56387000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:56375600-56382400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:56376400-56384000	Weak transcription	Pancreas	Pancrea
35	chr6:56376400-56407200	Weak transcription	Gastric	stomach
36	chr6:56376600-56389800	Weak transcription	A549	lung
37	chr6:56376800-56386000	Strong transcription	HMEC	breast
38	chr6:56377200-56404200	Weak transcription	K562	blood
39	chr6:56377800-56388000	Strong transcription	GM12878-XiMat	blood
40	chr6:56378000-56384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:56378400-56382800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:56378600-56382400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:56378600-56384000	Weak transcription	Fetal Stomach	stomach
44	chr6:56378600-56384800	Strong transcription	Fetal Kidney	kidney
45	chr6:56378800-56383400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:56378800-56383400	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:56378800-56386400	Weak transcription	NHEK	skin
48	chr6:56379200-56383400	Enhancers	Rectal Smooth Muscle	rectum
49	chr6:56379400-56382800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:56379600-56382000	Weak transcription	Fetal Heart	heart

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