Variant report

Variant	rs9470872
Chromosome Location	chr6:38372525-38372526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38371909..38373449-chr6:38395704..38397463,2	K562	blood:
2	chr6:38368148..38369962-chr6:38370893..38373695,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12181218	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814881	1.00[CEU][hapmap]
rs58303939	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60588879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6920740	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs73422890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9296245	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9462430	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9470853	1.00[EUR][1000 genomes]
rs9470864	0.85[AMR][1000 genomes]
rs9470869	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470870	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470871	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv602958	chr6:38362024-38446634	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38354000-38376000	Weak transcription	Primary T cells from cord blood	blood
2	chr6:38360400-38372800	Weak transcription	Left Ventricle	heart
3	chr6:38365800-38372600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:38368200-38373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:38370800-38375200	Enhancers	Fetal Brain Male	brain
6	chr6:38371200-38375600	Enhancers	Adipose Nuclei	Adipose
7	chr6:38371400-38373000	Enhancers	Brain Angular Gyrus	brain
8	chr6:38371600-38374000	Enhancers	Brain Hippocampus Middle	brain
9	chr6:38371600-38376400	Enhancers	Liver	Liver
10	chr6:38371800-38373000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:38371800-38373200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:38371800-38373400	Enhancers	HepG2	liver
13	chr6:38371800-38374000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:38371800-38374000	Enhancers	HMEC	breast
15	chr6:38371800-38374200	Enhancers	NHEK	skin
16	chr6:38372000-38372600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:38372000-38373000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:38372000-38373200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:38372000-38373200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:38372000-38373200	Enhancers	Small Intestine	intestine
21	chr6:38372000-38373400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:38372000-38373400	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:38372000-38373400	Enhancers	Hela-S3	cervix
24	chr6:38372000-38373600	Enhancers	Brain Germinal Matrix	brain
25	chr6:38372000-38374000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:38372000-38374000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:38372000-38374000	Enhancers	Brain Anterior Caudate	brain
28	chr6:38372000-38374000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:38372000-38374000	Enhancers	Brain Substantia Nigra	brain
30	chr6:38372000-38374800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:38372200-38372600	Enhancers	Fetal Muscle Leg	muscle
32	chr6:38372200-38372600	Enhancers	HSMM	muscle
33	chr6:38372200-38372800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:38372200-38373000	Enhancers	Aorta	Aorta
35	chr6:38372200-38373000	Enhancers	HUVEC	blood vessel
36	chr6:38372200-38373000	Enhancers	NHDF-Ad	bronchial
37	chr6:38372200-38373000	Enhancers	Osteobl	bone
38	chr6:38372200-38373200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:38372200-38373200	Enhancers	Colon Smooth Muscle	Colon
40	chr6:38372200-38373200	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:38372200-38373200	Enhancers	Fetal Intestine Small	intestine
42	chr6:38372200-38373200	Enhancers	Fetal Lung	lung
43	chr6:38372200-38373200	Enhancers	Psoas Muscle	Psoas
44	chr6:38372200-38373800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:38372200-38373800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:38372200-38374000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:38372400-38372600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:38372400-38372600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:38372400-38372600	Enhancers	Primary B cells from peripheral blood	blood
50	chr6:38372400-38372600	Enhancers	Esophagus	oesophagus

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