Variant report

Variant	rs195412
Chromosome Location	chr6:37301217-37301218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37296478..37299221-chr6:37300461..37302140,2	K562	blood:
2	chr6:37300785..37302603-chr6:37307878..37309457,2	K562	blood:
3	chr6:37299695..37302500-chr6:37310796..37313153,2	K562	blood:
4	chr6:37295574..37298465-chr6:37299510..37301716,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1224289	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149702	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149703	0.95[ASN][1000 genomes]
rs149704	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149706	0.95[ASN][1000 genomes]
rs149707	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149708	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149710	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149711	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149712	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs149714	0.91[ASN][1000 genomes]
rs149715	0.95[ASN][1000 genomes]
rs149716	0.95[ASN][1000 genomes]
rs149718	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1564502	0.91[CEU][hapmap];0.93[ASN][1000 genomes]
rs166394	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17572438	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195372	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195392	0.93[AMR][1000 genomes]
rs195399	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs195421	0.80[CEU][hapmap];0.95[ASN][1000 genomes]
rs195422	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195423	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195424	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195425	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195426	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195427	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195742	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195743	0.91[ASN][1000 genomes]
rs195744	0.91[ASN][1000 genomes]
rs195745	0.93[ASN][1000 genomes]
rs195747	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs195748	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195750	0.93[ASN][1000 genomes]
rs195751	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195752	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195753	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195754	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs195756	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195757	0.95[ASN][1000 genomes]
rs195758	0.85[ASN][1000 genomes]
rs195759	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195761	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195762	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195763	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2008782	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2144408	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2295244	1.00[JPT][hapmap]
rs2622884	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2622892	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2622900	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs262899	1.00[JPT][hapmap]
rs262920	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs262922	0.83[ASN][1000 genomes]
rs262923	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs262924	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs262925	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs262939	1.00[JPT][hapmap]
rs262942	1.00[JPT][hapmap]
rs2748332	0.95[ASN][1000 genomes]
rs2842618	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs398739	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs410193	0.81[ASN][1000 genomes]
rs410711	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs41272216	0.95[ASN][1000 genomes]
rs4143230	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs418343	0.91[ASN][1000 genomes]
rs425267	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs441745	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs446344	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4711491	0.95[ASN][1000 genomes]
rs4711492	0.95[ASN][1000 genomes]
rs4714054	0.95[ASN][1000 genomes]
rs4714056	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs517672	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs60979150	0.95[ASN][1000 genomes]
rs61357257	0.95[ASN][1000 genomes]
rs6457985	0.95[ASN][1000 genomes]
rs6457986	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6911196	0.95[ASN][1000 genomes]
rs6917404	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6917722	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7760945	0.95[ASN][1000 genomes]
rs7761532	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7775913	0.95[ASN][1000 genomes]
rs9470546	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[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	nsv521807	chr6:37295630-37305622	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs195412	TMEM217	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37287200-37302000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:37288600-37301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:37290600-37302800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:37291600-37303000	Weak transcription	Fetal Brain Male	brain
5	chr6:37292000-37308400	Weak transcription	Hela-S3	cervix
6	chr6:37292400-37302200	Weak transcription	A549	lung
7	chr6:37292400-37303600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:37292600-37303600	Weak transcription	HMEC	breast
9	chr6:37292600-37308400	Weak transcription	HSMM	muscle
10	chr6:37292800-37302400	Weak transcription	Fetal Heart	heart
11	chr6:37292800-37303400	Weak transcription	NHDF-Ad	bronchial
12	chr6:37292800-37307600	Weak transcription	Fetal Kidney	kidney
13	chr6:37293200-37302600	Weak transcription	Stomach Mucosa	stomach
14	chr6:37295400-37301400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:37296600-37301600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:37296600-37302200	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:37296800-37301400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:37297000-37301400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:37297000-37301400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr6:37297000-37301800	Strong transcription	Primary T cells from cord blood	blood
21	chr6:37297000-37302200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:37297000-37302200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:37297000-37302600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:37297200-37301400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:37297200-37301400	Strong transcription	K562	blood
26	chr6:37297200-37301600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:37297200-37301600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:37297200-37302400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:37297200-37302400	Strong transcription	Fetal Thymus	thymus
30	chr6:37297600-37302200	Strong transcription	Thymus	Thymus
31	chr6:37298200-37301600	Strong transcription	Fetal Stomach	stomach
32	chr6:37298400-37301400	Strong transcription	NH-A	brain
33	chr6:37298600-37301400	Strong transcription	Fetal Intestine Large	intestine
34	chr6:37298600-37301400	Strong transcription	Placenta	Placenta
35	chr6:37298600-37301600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:37298600-37301800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:37298600-37302000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:37298600-37302200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:37298600-37302200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr6:37298600-37302400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:37298800-37301400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:37298800-37301400	Strong transcription	Brain Angular Gyrus	brain
43	chr6:37298800-37302200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr6:37299000-37301400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:37299000-37301400	Strong transcription	Brain Germinal Matrix	brain
46	chr6:37299400-37301400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:37299600-37302000	Weak transcription	Psoas Muscle	Psoas
48	chr6:37299800-37301400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:37299800-37302600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:37299800-37303400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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