Variant report

Variant	rs72905231
Chromosome Location	chr2:191303525-191303526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191302906..191304417-chr2:191305140..191306765,2	K562	blood:
2	chr2:191302915..191305261-chr2:191313085..191315197,2	K562	blood:
3	chr2:191300907..191304417-chr2:191304488..191309004,4	K562	blood:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10804034	0.81[EUR][1000 genomes]
rs10931455	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10931459	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10931460	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10931464	0.83[EUR][1000 genomes]
rs11673788	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11673921	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674229	0.85[EUR][1000 genomes]
rs11675051	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11677333	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11685221	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11686226	0.83[EUR][1000 genomes]
rs11695681	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13005335	0.83[EUR][1000 genomes]
rs17801596	0.85[EUR][1000 genomes]
rs2159822	0.83[EUR][1000 genomes]
rs34101385	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34109383	0.83[EUR][1000 genomes]
rs34703964	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34751744	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35954637	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36064835	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3934784	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4324341	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4343493	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4384819	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4384820	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4597559	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4638823	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853701	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55784091	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55788736	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55884870	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55901912	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55918914	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56094872	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56337518	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61730953	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61743479	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62180963	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62180964	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62180981	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62180988	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62180989	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62181001	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181002	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181014	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181015	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181017	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181024	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62181026	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62181027	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62181031	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62181032	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62181033	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62181036	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62181053	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62181057	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62182860	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62182861	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62182862	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62182863	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62182864	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62182892	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62182893	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6707836	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6708018	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6714829	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6719656	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6725814	0.89[ASN][1000 genomes]
rs6727054	0.82[EUR][1000 genomes]
rs6742904	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753226	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6756354	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757698	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903331	0.85[EUR][1000 genomes]
rs72905290	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907168	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72911128	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7572139	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7573621	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7574871	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7721	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72905231	TMEM194B	cis	Thyroid	GTEx
rs72905231	TMEM194B	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
2	chr2:191296800-191311400	Weak transcription	Fetal Lung	lung
3	chr2:191297200-191306200	Weak transcription	K562	blood
4	chr2:191297400-191305600	Weak transcription	Small Intestine	intestine
5	chr2:191298400-191304600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:191298400-191306000	Weak transcription	Fetal Kidney	kidney
7	chr2:191298600-191309000	Weak transcription	Stomach Mucosa	stomach
8	chr2:191299400-191304000	Weak transcription	Placenta	Placenta
9	chr2:191299600-191308800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:191299800-191305600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:191300600-191303600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:191300600-191303600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:191300600-191305000	Strong transcription	Primary B cells from cord blood	blood
14	chr2:191300800-191303800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:191300800-191303800	Strong transcription	Brain Germinal Matrix	brain
16	chr2:191300800-191303800	Strong transcription	Fetal Intestine Large	intestine
17	chr2:191300800-191304400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:191301000-191303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:191301000-191306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:191301200-191303800	Strong transcription	Ovary	ovary
21	chr2:191301200-191307000	Weak transcription	Fetal Heart	heart
22	chr2:191301400-191303800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:191301400-191303800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:191301600-191304800	Weak transcription	HepG2	liver
25	chr2:191301800-191305800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:191302000-191304000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:191302000-191304200	Weak transcription	GM12878-XiMat	blood
28	chr2:191302000-191305600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:191302000-191307800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:191302200-191304000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:191302200-191305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:191302200-191305600	Weak transcription	Gastric	stomach
33	chr2:191302200-191305600	Weak transcription	Left Ventricle	heart
34	chr2:191302200-191305600	Weak transcription	Lung	lung
35	chr2:191302200-191305600	Weak transcription	Pancreas	Pancrea
36	chr2:191302200-191305600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:191302200-191306000	Weak transcription	Spleen	Spleen
38	chr2:191302200-191307200	Weak transcription	Aorta	Aorta
39	chr2:191302200-191307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:191302200-191308400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:191302200-191311200	Weak transcription	Fetal Stomach	stomach
42	chr2:191302200-191311400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:191302200-191319200	Weak transcription	Fetal Intestine Small	intestine
44	chr2:191302200-191321200	Weak transcription	Esophagus	oesophagus
45	chr2:191302400-191304400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:191302400-191304600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:191302400-191306400	Weak transcription	Right Ventricle	heart
48	chr2:191302400-191307200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:191302400-191307400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:191302400-191308400	Weak transcription	Fetal Muscle Trunk	muscle

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