Variant report

Variant	rs9357239
Chromosome Location	chr6:37060809-37060810
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	chr6:37060206..37065655-chr6:37067548..37072519,8	K562	blood:
2	chr6:37054904..37056692-chr6:37060805..37062667,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs59613460	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6912088	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6918055	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6918118	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6934536	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6941432	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9357237	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9357238	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9366928	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9357239	LRFN2	cis	cerebellum	SCAN
rs9357239	RNF8	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37051600-37063400	Weak transcription	Small Intestine	intestine
2	chr6:37052200-37070000	Weak transcription	Right Atrium	heart
3	chr6:37052800-37069800	Weak transcription	Ovary	ovary
4	chr6:37057800-37061400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:37058000-37069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:37059200-37062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:37059200-37062400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:37059800-37061200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:37059800-37061200	Weak transcription	K562	blood
10	chr6:37060000-37061000	Weak transcription	Hela-S3	cervix
11	chr6:37060400-37061400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:37060400-37061400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:37060400-37061400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:37060400-37061800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:37060400-37061800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:37060400-37062000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:37060400-37062000	Genic enhancers	Fetal Intestine Small	intestine
18	chr6:37060400-37062000	Enhancers	HMEC	breast
19	chr6:37060400-37062400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:37060400-37062600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:37060400-37062800	Weak transcription	Spleen	Spleen
22	chr6:37060400-37064200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:37060400-37064600	Enhancers	Fetal Intestine Large	intestine
24	chr6:37060600-37061200	Enhancers	Brain Germinal Matrix	brain
25	chr6:37060600-37061200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr6:37060600-37061400	Enhancers	Fetal Muscle Leg	muscle
27	chr6:37060600-37061400	Enhancers	A549	lung
28	chr6:37060600-37061800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:37060600-37061800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:37060600-37063200	Enhancers	Esophagus	oesophagus
31	chr6:37060600-37063400	Enhancers	Fetal Thymus	thymus
32	chr6:37060600-37064800	Enhancers	Adipose Nuclei	Adipose
33	chr6:37060800-37061000	Enhancers	HepG2	liver
34	chr6:37060800-37061200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:37060800-37061200	Weak transcription	Pancreas	Pancrea
36	chr6:37060800-37061200	Enhancers	Osteobl	bone
37	chr6:37060800-37061400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:37060800-37061600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr6:37060800-37061800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:37060800-37061800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:37060800-37061800	Enhancers	Brain Anterior Caudate	brain
42	chr6:37060800-37062400	Enhancers	NHEK	skin
43	chr6:37060800-37063600	Enhancers	Placenta	Placenta

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