Variant report

Variant	rs9470457
Chromosome Location	chr6:36997331-36997332
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36953316..36955356-chr6:36995886..36997789,2	MCF-7	breast:
2	chr6:36994882..36997738-chr6:37171997..37173626,2	K562	blood:
3	chr6:36996704..36998294-chr6:37000427..37002099,2	K562	blood:
4	chr6:36995831..36998687-chr6:37023860..37026177,3	K562	blood:
5	chr6:36997142..36997695-chr6:37176051..37176673,2	MCF-7	breast:
6	chr6:36995255..36997450-chr6:37157746..37159592,2	K562	blood:
7	chr6:36995372..37000472-chr6:37174362..37180086,7	K562	blood:
8	chr6:36986189..36986703-chr6:36997156..36997970,2	K562	blood:
9	chr6:36989505..36991415-chr6:36995722..36997546,2	K562	blood:
10	chr6:36996735..36997557-chr6:37139677..37140272,3	MCF-7	breast:
11	chr6:36995831..36998687-chr6:37024606..37026177,2	K562	blood:
12	chr6:36996711..36997700-chr6:37177886..37178877,18	K562	blood:
13	chr6:36996009..36998535-chr6:37144117..37146528,2	K562	blood:
14	chr6:36996603..36998184-chr6:37175452..37176492,5	K562	blood:
15	chr6:36996688..36999703-chr6:37014680..37019381,6	K562	blood:
16	chr6:36953033..36955715-chr6:36997324..37000089,2	K562	blood:
17	chr6:36993041..37002133-chr6:37135266..37141596,21	K562	blood:
18	chr6:36996460..36997707-chr6:37139435..37140619,25	K562	blood:
19	chr6:36996690..36999564-chr6:37000125..37002261,3	MCF-7	breast:
20	chr6:36997138..36997668-chr6:37137360..37138338,2	K562	blood:
21	chr6:36995858..36998070-chr6:37135401..37138146,2	K562	blood:
22	chr6:36996464..36997699-chr6:37282346..37283344,3	K562	blood:
23	chr6:36997224..37001862-chr6:37173680..37176936,6	K562	blood:
24	chr6:36993956..36998841-chr6:37016055..37021281,5	K562	blood:
25	chr6:36997259..36998862-chr6:37140083..37143068,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs41272212	1.00[EUR][1000 genomes]
rs56693599	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73730518	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9470457	ENSG00000146192	cis	multi-tissue	Pritchard

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36986800-37006600	Weak transcription	Colonic Mucosa	Colon
2	chr6:36988200-36998000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:36988600-37006600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:36990200-36998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:36990200-37006600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:36991000-37001600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:36991600-36998400	Weak transcription	Adipose Nuclei	Adipose
8	chr6:36991800-36998000	Weak transcription	GM12878-XiMat	blood
9	chr6:36992600-37005800	Weak transcription	Liver	Liver
10	chr6:36992800-37006600	Weak transcription	Gastric	stomach
11	chr6:36993800-37001200	Weak transcription	Pancreas	Pancrea
12	chr6:36993800-37018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:36995800-36997400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:36995800-37006600	Weak transcription	Lung	lung
15	chr6:36996200-36999400	Weak transcription	Spleen	Spleen
16	chr6:36996600-36997600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:36996800-36997400	Enhancers	Primary T cells from cord blood	blood
18	chr6:36996800-36997400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:36996800-36997400	Enhancers	HepG2	liver
20	chr6:36996800-36997600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:36996800-36997600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:36996800-36997600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:36996800-36997600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr6:36996800-36998000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:36996800-36998200	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:36997000-36997400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:36997000-36997400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:36997000-36997400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:36997000-36997400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:36997000-36997400	Enhancers	Esophagus	oesophagus
31	chr6:36997000-36997400	Enhancers	Dnd41	blood
32	chr6:36997000-36997600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:36997000-36997600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr6:36997000-36997600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:36997000-36997600	Enhancers	HMEC	breast
36	chr6:36997000-36997800	Enhancers	K562	blood
37	chr6:36997000-36998200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr6:36997000-36998200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:36997000-36998200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:36997200-36997400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:36997200-36997400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:36997200-36997400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:36997200-36997400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:36997200-36997600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:36997200-36997600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:36997200-36997800	Weak transcription	Primary B cells from cord blood	blood
47	chr6:36997200-36998400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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