Variant report

Variant	rs4499917
Chromosome Location	chr6:56386598-56386599
allele	A/C
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	chr6:56386188..56388419-chr6:56391719..56395434,3	MCF-7	breast:
3	chr6:56379723..56396922-chr6:56400495..56411638,31	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11753813	0.87[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs11756977	0.84[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes]
rs11758339	0.90[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap]
rs11759493	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11961668	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12174955	0.90[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs12527139	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13194746	0.88[AMR][1000 genomes]
rs13204556	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13219448	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1359068	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1359070	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1535610	0.85[ASN][1000 genomes]
rs1535612	0.87[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs1570492	0.81[ASN][1000 genomes]
rs16887974	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17825773	0.84[MEX][hapmap]
rs2273972	0.86[CEU][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap]
rs2273973	0.87[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs2273974	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2397226	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34954984	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35671304	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35926142	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4130060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4143827	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4143828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4236139	0.86[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4236140	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4236141	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236142	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236143	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4236145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4283892	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4329120	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4331988	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4346846	0.87[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4454141	0.87[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4466244	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4472350	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4473850	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4544910	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs45486696	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4712132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4712133	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4715625	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715626	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]
rs4715627	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]
rs4715628	0.86[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4715629	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4715630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715631	0.89[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes]
rs6459161	0.86[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap]
rs6459163	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6904202	0.86[CEU][hapmap];0.95[GIH][hapmap]
rs6906792	0.87[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6907917	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6911502	0.93[GIH][hapmap];0.83[MEX][hapmap]
rs6913572	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6914184	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6919608	0.95[GIH][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6922770	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6927258	0.86[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs6939305	0.90[CEU][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs721475	0.85[ASN][1000 genomes]
rs72877350	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7741295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743011	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7746753	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7755361	0.91[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7755573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7758054	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7759875	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7760640	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7760695	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7761281	0.90[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7762629	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9296848	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9296849	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9296850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349823	0.89[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap]
rs9349825	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9349826	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9349828	0.86[JPT][hapmap]
rs9357921	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357922	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9370533	0.90[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9370534	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9370535	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9382631	0.81[ASN][1000 genomes]
rs9382635	0.85[ASN][1000 genomes]
rs9396213	0.82[CEU][hapmap];0.81[CHB][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]
rs9396214	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9396215	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9396218	0.85[ASN][1000 genomes]
rs9464389	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9475709	0.86[ASN][1000 genomes]
rs9475711	0.81[EUR][1000 genomes]
rs9475713	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9475714	0.87[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9475716	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
2	chr6:56351800-56386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:56362400-56391200	Weak transcription	Esophagus	oesophagus
4	chr6:56362800-56400200	Weak transcription	Colonic Mucosa	Colon
5	chr6:56363000-56402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:56373000-56390800	Weak transcription	Placenta	Placenta
7	chr6:56374200-56387000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:56374200-56390800	Weak transcription	Lung	lung
9	chr6:56374200-56391000	Weak transcription	Right Atrium	heart
10	chr6:56374400-56392000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:56374400-56396800	Weak transcription	Fetal Brain Female	brain
12	chr6:56374600-56390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:56374600-56391200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:56374600-56395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:56374600-56399600	Weak transcription	Fetal Thymus	thymus
16	chr6:56375000-56387000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:56376400-56407200	Weak transcription	Gastric	stomach
18	chr6:56376600-56389800	Weak transcription	A549	lung
19	chr6:56377200-56404200	Weak transcription	K562	blood
20	chr6:56377800-56388000	Strong transcription	GM12878-XiMat	blood
21	chr6:56380400-56386600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:56380400-56390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:56380600-56386600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:56380600-56390400	Weak transcription	Stomach Mucosa	stomach
25	chr6:56380600-56401200	Weak transcription	Psoas Muscle	Psoas
26	chr6:56380800-56386600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:56381200-56386800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:56382000-56390400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:56382400-56387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:56382600-56390800	Weak transcription	Aorta	Aorta
31	chr6:56382600-56391000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:56382800-56386600	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:56382800-56388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:56382800-56390800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:56383200-56396400	Weak transcription	Brain Germinal Matrix	brain
36	chr6:56383200-56402400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:56383600-56388200	Weak transcription	NH-A	brain
38	chr6:56384000-56390800	Weak transcription	Right Ventricle	heart
39	chr6:56384400-56389000	Weak transcription	Osteobl	bone
40	chr6:56384400-56402200	Weak transcription	Small Intestine	intestine
41	chr6:56384600-56386600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:56384600-56386600	Weak transcription	Brain Anterior Caudate	brain
43	chr6:56384600-56387000	Weak transcription	Fetal Intestine Small	intestine
44	chr6:56384600-56387000	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:56384600-56387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:56384600-56387400	Weak transcription	Left Ventricle	heart
47	chr6:56384600-56388600	Weak transcription	Ovary	ovary
48	chr6:56384600-56389200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:56384600-56389800	Weak transcription	Fetal Brain Male	brain
50	chr6:56384600-56390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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