Variant report

Variant	rs41272216
Chromosome Location	chr6:37249913-37249914
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37247600..37250323-chr6:37252461..37254000,2	K562	blood:
2	chr6:37208175..37211022-chr6:37248021..37250204,2	K562	blood:
3	chr6:37246383..37248879-chr6:37249082..37251574,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11752265	0.82[ASN][1000 genomes]
rs1224289	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1224384	0.82[ASN][1000 genomes]
rs149702	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149703	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149704	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149705	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149706	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149707	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149708	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149710	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149711	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149712	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149714	0.95[ASN][1000 genomes]
rs149715	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149716	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149718	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564502	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166394	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195370	0.95[ASN][1000 genomes]
rs195372	0.95[ASN][1000 genomes]
rs195412	0.95[ASN][1000 genomes]
rs195421	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195422	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195423	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195424	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195425	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195426	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195427	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195742	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195743	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs195744	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs195745	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195747	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195750	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195751	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195752	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195754	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195756	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195757	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195758	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195759	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195761	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195762	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195763	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008782	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144408	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622884	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622892	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622900	0.95[ASN][1000 genomes]
rs262920	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262922	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs262923	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262924	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262925	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2748332	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842618	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398739	0.95[ASN][1000 genomes]
rs410183	0.83[ASN][1000 genomes]
rs410193	0.85[ASN][1000 genomes]
rs410711	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143230	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418343	0.95[ASN][1000 genomes]
rs425267	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437956	0.83[ASN][1000 genomes]
rs441745	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446344	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711491	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711492	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714054	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714056	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517672	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60979150	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61357257	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457985	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457986	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6911196	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917404	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917722	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760945	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761532	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775913	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470546	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41272216	TMEM217	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37226400-37250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:37226600-37250000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:37226600-37259400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:37227000-37250000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:37227200-37250200	Weak transcription	Brain Angular Gyrus	brain
6	chr6:37232400-37255000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:37233400-37250400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:37234000-37251800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:37236000-37250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:37237800-37251000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:37238800-37250200	Weak transcription	A549	lung
12	chr6:37238800-37250200	Weak transcription	HUVEC	blood vessel
13	chr6:37238800-37250600	Weak transcription	NHDF-Ad	bronchial
14	chr6:37240200-37250000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:37240600-37250400	Weak transcription	Aorta	Aorta
16	chr6:37241200-37251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:37241800-37251000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:37242000-37281400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:37242600-37250200	Weak transcription	Fetal Kidney	kidney
20	chr6:37245200-37250400	Weak transcription	Pancreas	Pancrea
21	chr6:37245400-37250400	Weak transcription	Fetal Brain Male	brain
22	chr6:37246000-37256600	Genic enhancers	Dnd41	blood
23	chr6:37246000-37259600	Weak transcription	Small Intestine	intestine
24	chr6:37246200-37250000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:37246200-37253200	Strong transcription	NHEK	skin
26	chr6:37246200-37253800	Genic enhancers	Fetal Thymus	thymus
27	chr6:37246200-37256400	Strong transcription	HepG2	liver
28	chr6:37246400-37258000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:37246600-37252600	Enhancers	Psoas Muscle	Psoas
30	chr6:37246600-37255600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:37246600-37256200	Strong transcription	Primary T cells from cord blood	blood
32	chr6:37246600-37256200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:37246600-37256600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:37246800-37250000	Weak transcription	Colonic Mucosa	Colon
35	chr6:37246800-37253000	Genic enhancers	Fetal Muscle Leg	muscle
36	chr6:37246800-37255600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:37246800-37255800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:37246800-37256200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr6:37246800-37256400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr6:37246800-37263400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:37246800-37264600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:37246800-37266200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr6:37247000-37252000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:37247000-37252800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:37247000-37255800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:37247000-37256400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:37247000-37258000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:37247000-37263800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:37247000-37264000	Strong transcription	Fetal Intestine Large	intestine
50	chr6:37247000-37264400	Strong transcription	Rectal Mucosa Donor 29	rectum

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