Variant report

Variant	rs262920
Chromosome Location	chr6:37224231-37224232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37224216-37224266	HCM	heart:	n/a
2	chr6:37224216-37224266	ovcar-3	ovarian:	n/a
3	chr6:37224216-37224266	NHDF-neo	bronchial:	n/a
4	chr6:37224216-37224266	Hepatocyte	liver:	n/a
5	chr6:37224216-37224266	GM12892	blood:	n/a
6	chr6:37224216-37224266	Caco-2	colon:	n/a
7	chr6:37224216-37224266	HCT-116	colon:	n/a
8	chr6:37224216-37224266	CMK	blood:	n/a
9	chr6:37224216-37224266	HUVEC	blood vessel:	n/a
10	chr6:37224216-37224266	NH-A	brain:	n/a
11	chr6:37224216-37224266	BJ	skin:	n/a
12	chr6:37224216-37224266	SK-N-SH_RA	brain:	n/a
13	chr6:37224216-37224266	ECC-1	luminal epithelium:	n/a
14	chr6:37224216-37224266	NB4	blood:	n/a
15	chr6:37224216-37224266	A549	lung:	n/a
16	chr6:37224216-37224266	LNCaP	prostate:	n/a
17	chr6:37224216-37224266	HMEC	breast:	n/a
18	chr6:37224216-37224266	AG04449	skin:	fetal
19	chr6:37224216-37224266	PANC-1	pancreas:	n/a
20	chr6:37224216-37224266	HCPEpiC	choroid plexus:	n/a
21	chr6:37224216-37224266	HepG2	liver:	n/a
22	chr6:37224216-37224266	SAEC	small airway:	n/a
23	chr6:37224216-37224266	HL-60	blood:	n/a
24	chr6:37224216-37224266	SKMC	muscle:	n/a
25	chr6:37224216-37224266	IMR90	lung:	fetal
26	chr6:37224216-37224266	HEK293	kidney:	embryo
27	chr6:37224216-37224266	MCF-7	breast:	n/a
28	chr6:37224216-37224266	SK-N-SH	brain:	n/a
29	chr6:37224216-37224266	NT2-D1	testis:	n/a
30	chr6:37224216-37224266	HEEpiC	esophagus:	n/a
31	chr6:37224216-37224266	AG09319	gingival:	n/a
32	chr6:37224216-37224266	BE2_C	brain:	n/a
33	chr6:37224216-37224266	U87	brain:	n/a
34	chr6:37224216-37224266	GM12878	blood:	n/a
35	chr6:37224216-37224266	HRCEpiC	kidney:	n/a
36	chr6:37224216-37224266	MCF10A-Er-Src	breast:	n/a
37	chr6:37224216-37224266	H1-hESC	embryonic stem cell:	embryo
38	chr6:37224216-37224266	AG04450	lung:	fetal
39	chr6:37224216-37224266	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:37224216-37224266	T-47D	breast:	n/a
41	chr6:37224216-37224266	HAEpiC	amniotic membrane:	n/a
42	chr6:37224216-37224266	PFSK-1	brain:	n/a
43	chr6:37224216-37224266	HRE	kidney:	n/a
44	chr6:37224216-37224266	K562	blood:	n/a
45	chr6:37224216-37224266	NHBE	bronchial:	n/a
46	chr6:37224216-37224266	GM19239	blood:	n/a
47	chr6:37224216-37224266	HNPCEpiC	eye:	n/a
48	chr6:37224216-37224266	HCF	heart:	n/a
49	chr6:37224216-37224266	AG09309	skin:	n/a
50	chr6:37224216-37224266	HIPEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36841093..36843369-chr6:37223969..37226953,2	K562	blood:
2	chr6:37200508..37202655-chr6:37222106..37224331,2	K562	blood:

No data

Variant related genes	Relation type
TBC1D22B	CpG island
ENSG00000137168	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11752265	0.82[ASN][1000 genomes]
rs1224289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1224384	0.82[ASN][1000 genomes]
rs149702	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149703	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149704	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149705	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149706	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149707	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149708	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149710	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149711	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149712	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149714	0.95[ASN][1000 genomes]
rs149715	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149716	0.90[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149718	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564502	0.81[CEU][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572438	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195370	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195372	0.95[ASN][1000 genomes]
rs195412	0.95[ASN][1000 genomes]
rs195421	0.89[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195422	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195423	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195424	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195425	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195426	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195427	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195742	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195743	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs195744	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs195745	0.98[ASN][1000 genomes]
rs195747	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195748	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195750	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195754	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs195756	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195757	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195758	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195759	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295244	1.00[JPT][hapmap]
rs2622884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622892	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622900	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs262899	0.91[CHD][hapmap];1.00[JPT][hapmap]
rs262922	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs262923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262939	1.00[JPT][hapmap]
rs262942	1.00[JPT][hapmap]
rs2748332	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398739	0.82[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs410183	0.83[ASN][1000 genomes]
rs410193	0.85[ASN][1000 genomes]
rs410711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272216	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143230	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418343	0.95[ASN][1000 genomes]
rs425267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437956	0.83[ASN][1000 genomes]
rs441745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711491	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711492	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714054	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714056	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60979150	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61357257	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457985	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6911196	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760945	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775913	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs262920	TMEM217	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37213400-37224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37213400-37225600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:37214400-37224600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:37214400-37224800	Weak transcription	Hela-S3	cervix
5	chr6:37214800-37225200	Weak transcription	Ovary	ovary
6	chr6:37215000-37224600	Weak transcription	Osteobl	bone
7	chr6:37219400-37224600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:37219600-37224600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:37219600-37224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:37219600-37224600	Weak transcription	HMEC	breast
11	chr6:37219800-37224800	Weak transcription	HUVEC	blood vessel
12	chr6:37220200-37224600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:37221600-37224800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:37222200-37224600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:37222200-37224600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:37222200-37225000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:37222400-37225000	Weak transcription	Gastric	stomach
18	chr6:37222800-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:37222800-37225400	Flanking Active TSS	Dnd41	blood
20	chr6:37223000-37225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:37223000-37225400	Weak transcription	Lung	lung
22	chr6:37223200-37225000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:37223800-37224600	Enhancers	K562	blood
24	chr6:37224000-37224800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:37224200-37224600	Enhancers	HepG2	liver
26	chr6:37224200-37225000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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