Variant report

Variant	rs228187
Chromosome Location	chr6:38317803-38317804
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	chr6:38294680..38296674-chr6:38317657..38319698,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1475761	0.91[CEU][hapmap]
rs1931767	0.91[CEU][hapmap]
rs228181	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228182	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228184	0.96[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs228185	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4711533	0.92[EUR][1000 genomes]
rs4714136	0.91[CEU][hapmap]
rs4714140	0.95[CEU][hapmap]
rs4714144	0.96[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs6905637	0.96[CEU][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes]
rs6922620	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7760807	0.91[EUR][1000 genomes]
rs9380737	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9470847	0.91[CEU][hapmap]
rs9470848	0.91[CEU][hapmap]
rs9470851	0.91[CEU][hapmap]
rs9470856	0.96[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38285000-38327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:38301600-38324600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:38302000-38318200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:38304600-38323000	Weak transcription	Ovary	ovary
5	chr6:38305000-38318000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:38307600-38318400	Weak transcription	Fetal Intestine Small	intestine
7	chr6:38309000-38318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:38309000-38319000	Weak transcription	Esophagus	oesophagus
9	chr6:38309800-38323400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:38310800-38326000	Weak transcription	Lung	lung
11	chr6:38311400-38319000	Weak transcription	Left Ventricle	heart
12	chr6:38311400-38322000	Weak transcription	Primary B cells from cord blood	blood
13	chr6:38312000-38326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:38313200-38321400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:38313800-38325800	Weak transcription	Psoas Muscle	Psoas
16	chr6:38313800-38331200	Weak transcription	Primary T cells from cord blood	blood
17	chr6:38314000-38319200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:38314200-38319400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:38314600-38318400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:38314800-38318000	Weak transcription	HSMM	muscle
21	chr6:38314800-38325800	Weak transcription	Right Atrium	heart
22	chr6:38315000-38318000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:38315000-38318200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:38315200-38318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:38315200-38325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:38315800-38339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:38316200-38318400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:38316400-38318400	Weak transcription	Brain Anterior Caudate	brain
29	chr6:38316400-38318600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:38316400-38318600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:38316600-38318000	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:38316600-38319200	Enhancers	Fetal Stomach	stomach
33	chr6:38316600-38321600	Weak transcription	Fetal Brain Female	brain
34	chr6:38316600-38322400	Weak transcription	Brain Angular Gyrus	brain
35	chr6:38316800-38318600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:38316800-38322800	Weak transcription	Brain Substantia Nigra	brain
37	chr6:38317200-38318000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:38317200-38319200	Enhancers	Osteobl	bone
39	chr6:38317400-38318000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:38317400-38318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:38317400-38318200	Enhancers	Small Intestine	intestine
42	chr6:38317400-38319200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:38317400-38319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:38317400-38319200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:38317400-38319200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:38317400-38319200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:38317400-38319200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:38317400-38319200	Enhancers	NH-A	brain
49	chr6:38317400-38319200	Enhancers	NHDF-Ad	bronchial
50	chr6:38317400-38320200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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