Variant report

Variant	rs9462430
Chromosome Location	chr6:38318320-38318321
allele	A/C
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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12181218	1.00[EUR][1000 genomes]
rs2814881	1.00[CEU][hapmap]
rs4711537	0.83[YRI][hapmap]
rs58303939	0.85[AMR][1000 genomes]
rs60588879	1.00[EUR][1000 genomes]
rs6903799	1.00[CEU][hapmap]
rs6920740	1.00[CEU][hapmap]
rs73422890	1.00[EUR][1000 genomes]
rs9296245	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9470853	1.00[EUR][1000 genomes]
rs9470864	0.85[AMR][1000 genomes]
rs9470869	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9470870	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9470871	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9470872	1.00[CEU][hapmap];1.00[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:60 , 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	chr6:38304600-38323000	Weak transcription	Ovary	ovary
4	chr6:38307600-38318400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:38309000-38318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:38309000-38319000	Weak transcription	Esophagus	oesophagus
7	chr6:38309800-38323400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:38310800-38326000	Weak transcription	Lung	lung
9	chr6:38311400-38319000	Weak transcription	Left Ventricle	heart
10	chr6:38311400-38322000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:38312000-38326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:38313200-38321400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:38313800-38325800	Weak transcription	Psoas Muscle	Psoas
14	chr6:38313800-38331200	Weak transcription	Primary T cells from cord blood	blood
15	chr6:38314000-38319200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:38314200-38319400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:38314600-38318400	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:38314800-38325800	Weak transcription	Right Atrium	heart
19	chr6:38315200-38318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:38315200-38325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:38315800-38339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:38316200-38318400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:38316400-38318400	Weak transcription	Brain Anterior Caudate	brain
24	chr6:38316400-38318600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:38316400-38318600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:38316600-38319200	Enhancers	Fetal Stomach	stomach
27	chr6:38316600-38321600	Weak transcription	Fetal Brain Female	brain
28	chr6:38316600-38322400	Weak transcription	Brain Angular Gyrus	brain
29	chr6:38316800-38318600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:38316800-38322800	Weak transcription	Brain Substantia Nigra	brain
31	chr6:38317200-38319200	Enhancers	Osteobl	bone
32	chr6:38317400-38319200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:38317400-38319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:38317400-38319200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:38317400-38319200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:38317400-38319200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:38317400-38319200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:38317400-38319200	Enhancers	NH-A	brain
39	chr6:38317400-38319200	Enhancers	NHDF-Ad	bronchial
40	chr6:38317400-38320200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:38317600-38319200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:38317600-38319200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:38317600-38319200	Enhancers	Adipose Nuclei	Adipose
44	chr6:38317800-38318800	Weak transcription	GM12878-XiMat	blood
45	chr6:38317800-38319200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:38317800-38319200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr6:38318000-38318400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:38318000-38318600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:38318000-38318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:38318000-38319000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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