Variant report

Variant	rs4130060
Chromosome Location	chr6:56377394-56377395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56376171..56378986-chr6:56407329..56410206,2	K562	blood:
2	chr6:56376106..56377836-chr6:56404859..56408896,4	K562	blood:
3	chr6:56376128..56377836-chr6:56405249..56407124,2	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:103)

rs_ID	r²[population]
rs11753813	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11756977	0.80[AMR][1000 genomes]
rs11758339	0.90[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11759493	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11961668	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12174955	0.86[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12527139	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13204556	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13219448	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1359068	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1359070	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1535610	0.86[ASN][1000 genomes]
rs1535612	0.87[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1570492	0.82[ASN][1000 genomes]
rs16887974	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2273972	0.86[CEU][hapmap]
rs2273973	0.87[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2273974	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2397226	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34954984	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35671304	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35926142	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143827	0.89[EUR][1000 genomes]
rs4143828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4236139	0.86[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs4236140	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4236141	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4236142	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4236143	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4236144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4236145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4283892	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4329120	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4331988	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4346846	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs4454141	0.87[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4466244	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4472350	0.84[EUR][1000 genomes]
rs4473850	0.87[EUR][1000 genomes]
rs4499917	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]
rs4544910	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45486696	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4712132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4712133	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4715625	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4715626	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs4715627	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs4715628	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs4715629	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4715630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4715631	0.80[AMR][1000 genomes]
rs595238	0.83[YRI][hapmap]
rs636389	0.83[YRI][hapmap]
rs6459161	0.86[CEU][hapmap];0.80[JPT][hapmap]
rs6459163	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6904202	0.86[CEU][hapmap]
rs6906792	0.87[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs6907917	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6911502	0.83[YRI][hapmap]
rs6913572	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6914184	0.81[EUR][1000 genomes]
rs6919608	0.84[EUR][1000 genomes]
rs6922770	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs6927258	0.82[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs6939305	0.90[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs721475	0.86[ASN][1000 genomes]
rs72877350	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7741295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7743011	0.89[EUR][1000 genomes]
rs7746753	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7755361	0.91[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7755573	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7758054	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7759875	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs7760640	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7760695	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7761281	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7762629	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9296848	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9296849	0.89[EUR][1000 genomes]
rs9296850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349823	0.84[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9349825	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9349826	0.89[EUR][1000 genomes]
rs9349828	0.86[JPT][hapmap]
rs9357921	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357922	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9370531	0.81[ASN][1000 genomes]
rs9370533	0.86[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9370534	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9370535	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9382631	0.82[ASN][1000 genomes]
rs9382635	0.86[ASN][1000 genomes]
rs9396213	0.82[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9396214	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9396215	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9396218	0.86[ASN][1000 genomes]
rs9464389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475709	0.87[ASN][1000 genomes]
rs9475711	0.81[EUR][1000 genomes]
rs9475713	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs9475714	0.87[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs9475716	0.93[EUR][1000 genomes];0.91[ASN][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:107 , 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	chr6:56360600-56381800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr6:56362400-56391200	Weak transcription	Esophagus	oesophagus
11	chr6:56362600-56385800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:56362800-56400200	Weak transcription	Colonic Mucosa	Colon
13	chr6:56363000-56402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:56364800-56378600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:56365600-56379400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:56368400-56382400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:56369400-56378800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr6:56369400-56380600	Strong transcription	HSMMtube	muscle
19	chr6:56370000-56378000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:56370000-56382600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:56370600-56380400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:56371000-56378000	Enhancers	Fetal Heart	heart
23	chr6:56371200-56380200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:56372200-56378000	Genic enhancers	Liver	Liver
25	chr6:56372200-56384200	Weak transcription	Hela-S3	cervix
26	chr6:56372800-56378600	Strong transcription	Adipose Nuclei	Adipose
27	chr6:56372800-56378800	Strong transcription	Fetal Muscle Leg	muscle
28	chr6:56372800-56380200	Weak transcription	Aorta	Aorta
29	chr6:56373000-56378200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:56373000-56378600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:56373000-56382800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:56373000-56390800	Weak transcription	Placenta	Placenta
33	chr6:56373600-56378600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:56373600-56379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:56373800-56380200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:56374200-56383400	Weak transcription	Right Ventricle	heart
37	chr6:56374200-56387000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:56374200-56390800	Weak transcription	Lung	lung
39	chr6:56374200-56391000	Weak transcription	Right Atrium	heart
40	chr6:56374400-56378400	Weak transcription	NHEK	skin
41	chr6:56374400-56379200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:56374400-56386400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:56374400-56392000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:56374400-56396800	Weak transcription	Fetal Brain Female	brain
45	chr6:56374600-56377600	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:56374600-56377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:56374600-56378600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:56374600-56379400	Weak transcription	Brain Germinal Matrix	brain
49	chr6:56374600-56379400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:56374600-56379600	Weak transcription	Brain Cingulate Gyrus	brain

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