Variant report

Variant	rs195370
Chromosome Location	chr6:37305318-37305319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37302579..37305468-chr6:37307016..37308948,2	K562	blood:
2	chr6:37304825..37307374-chr6:37320661..37323463,2	K562	blood:
3	chr6:37296385..37298657-chr6:37302566..37305470,2	MCF-7	breast:
4	chr6:37268575..37270100-chr6:37303447..37306274,2	K562	blood:

Variant related genes	Relation type
ENSG00000112130	Chromatin interaction

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]
rs195372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs195399	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs195412	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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];0.80[EUR][1000 genomes];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];0.80[EUR][1000 genomes];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
rs195370	TMEM217	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37292000-37308400	Weak transcription	Hela-S3	cervix
2	chr6:37292600-37308400	Weak transcription	HSMM	muscle
3	chr6:37292800-37307600	Weak transcription	Fetal Kidney	kidney
4	chr6:37299800-37308200	Weak transcription	NHLF	lung
5	chr6:37300000-37308000	Weak transcription	Brain Substantia Nigra	brain
6	chr6:37300400-37311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:37300600-37307800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:37300600-37307800	Weak transcription	Fetal Lung	lung
9	chr6:37300600-37308000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:37300600-37308400	Weak transcription	Aorta	Aorta
11	chr6:37300600-37309800	Weak transcription	Spleen	Spleen
12	chr6:37300800-37306200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:37301000-37306400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:37301000-37306400	Weak transcription	Fetal Brain Female	brain
15	chr6:37301200-37308000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:37301200-37308200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:37301200-37308200	Weak transcription	Osteobl	bone
18	chr6:37301400-37305800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:37301400-37308200	Weak transcription	NH-A	brain
20	chr6:37301600-37305400	Weak transcription	Fetal Stomach	stomach
21	chr6:37302200-37307800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:37302200-37308000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:37302200-37309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:37302200-37310800	Weak transcription	Thymus	Thymus
25	chr6:37302400-37307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:37302400-37308200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:37302400-37311200	Weak transcription	Fetal Thymus	thymus
28	chr6:37302600-37308200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:37302800-37306800	Weak transcription	Liver	Liver
30	chr6:37303200-37306800	Weak transcription	HepG2	liver

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