Variant report

Variant	rs9380790
Chromosome Location	chr6:12104122-12104123
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	chr6:12097856..12101998-chr6:12102084..12105151,4	K562	blood:
2	chr6:12103778..12105799-chr6:12111875..12114584,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10947758	0.87[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10947793	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12199075	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12210300	0.83[JPT][hapmap]
rs12213070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13193986	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13206426	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1998528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2228210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2228213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3777760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3822925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4377779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4467770	0.94[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4714201	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714232	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6939913	0.88[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7383768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7752678	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296258	0.94[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9357299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9366985	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369076	0.88[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9369083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369108	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380859	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394538	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv870443	chr6:12096356-12125998	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9380790	C6orf218	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12061600-12105200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:12061600-12109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:12066400-12107600	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:12066800-12109600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:12070800-12120400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:12071800-12120400	Weak transcription	HepG2	liver
7	chr6:12077800-12113400	Weak transcription	HMEC	breast
8	chr6:12078000-12109800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:12079400-12104600	Weak transcription	Fetal Intestine Small	intestine
10	chr6:12081800-12109800	Weak transcription	Aorta	Aorta
11	chr6:12082200-12111400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:12082200-12111400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:12082200-12112800	Weak transcription	Spleen	Spleen
14	chr6:12084600-12109600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:12084800-12116600	Weak transcription	HSMMtube	muscle
16	chr6:12086000-12107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:12086000-12109600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:12086000-12113200	Weak transcription	Ovary	ovary
19	chr6:12088600-12111000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:12088800-12111400	Weak transcription	Left Ventricle	heart
21	chr6:12090800-12109600	Weak transcription	Primary B cells from cord blood	blood
22	chr6:12091000-12109600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:12091000-12109600	Weak transcription	HUVEC	blood vessel
24	chr6:12091000-12118800	Weak transcription	A549	lung
25	chr6:12091000-12130600	Weak transcription	Psoas Muscle	Psoas
26	chr6:12091200-12107400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:12091200-12111000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:12091200-12111800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:12093000-12109600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:12093200-12109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:12093200-12109800	Weak transcription	Fetal Thymus	thymus
32	chr6:12093400-12109600	Weak transcription	HSMM	muscle
33	chr6:12093400-12109800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:12093400-12110800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:12095600-12119200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:12095800-12105400	Weak transcription	Liver	Liver
37	chr6:12096800-12104200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:12098200-12107400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:12098400-12111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:12098400-12113200	Weak transcription	NHEK	skin
41	chr6:12098600-12109800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:12098800-12109600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:12098800-12109800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:12098800-12112800	Weak transcription	NH-A	brain
45	chr6:12099000-12109800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:12099000-12113000	Weak transcription	Osteobl	bone
47	chr6:12099000-12113200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:12100000-12107800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:12100000-12112800	Weak transcription	Lung	lung
50	chr6:12100600-12109800	Weak transcription	Fetal Lung	lung

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