Variant report

Variant	rs62427228
Chromosome Location	chr6:145072741-145072742
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	chr6:145071134..145073860-chr6:145076447..145078189,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10499237	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11751954	0.82[AMR][1000 genomes]
rs11753714	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11754229	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11754249	0.90[ASN][1000 genomes]
rs12525007	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17074210	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17074221	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17074224	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143181	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4266507	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4419685	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895651	0.83[AMR][1000 genomes]
rs4895653	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4895656	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4896739	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4896741	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4896746	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4896748	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56901236	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62427231	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62427233	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62427244	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62427245	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62427246	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62427251	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62427253	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6920589	0.83[ASN][1000 genomes]
rs6922804	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7744118	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7764891	0.86[EUR][1000 genomes]
rs9497087	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9497090	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9497091	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145011800-145090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
3	chr6:145024000-145087200	Weak transcription	Psoas Muscle	Psoas
4	chr6:145040000-145094600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:145040000-145114600	Weak transcription	NHLF	lung
6	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
7	chr6:145047200-145077400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:145047600-145075000	Weak transcription	Gastric	stomach
9	chr6:145047600-145083400	Weak transcription	Right Ventricle	heart
10	chr6:145047600-145096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
12	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:145047800-145079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:145047800-145079600	Weak transcription	NHEK	skin
15	chr6:145049400-145098400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:145049600-145088800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:145053000-145072800	Weak transcription	NHDF-Ad	bronchial
18	chr6:145053000-145079800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:145053200-145073800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:145054000-145095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:145054200-145072800	Weak transcription	Ovary	ovary
22	chr6:145054200-145093400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:145054400-145100000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:145056400-145072800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:145056600-145072800	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:145056600-145078600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:145059600-145096600	Weak transcription	Lung	lung
28	chr6:145059600-145097400	Weak transcription	Spleen	Spleen
29	chr6:145059800-145096600	Weak transcription	Fetal Stomach	stomach
30	chr6:145063400-145073600	Weak transcription	Fetal Heart	heart
31	chr6:145066200-145073200	Strong transcription	Primary B cells from cord blood	blood
32	chr6:145066200-145075400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:145066200-145077400	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:145066200-145090200	Weak transcription	Fetal Kidney	kidney
35	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
36	chr6:145066400-145074200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:145066400-145087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:145066400-145090400	Weak transcription	Pancreas	Pancrea
39	chr6:145066400-145090600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:145066600-145076800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:145066800-145076400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:145066800-145077800	Weak transcription	Brain Anterior Caudate	brain
43	chr6:145067000-145073000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:145067000-145073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:145067000-145075800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:145067000-145083800	Weak transcription	Fetal Lung	lung
47	chr6:145067800-145078000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:145067800-145115800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:145068000-145082200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:145068200-145074000	Strong transcription	Primary B cells from peripheral blood	blood

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