Variant report

Variant	rs7574871
Chromosome Location	chr2:191401403-191401404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr2:191401106-191401466	GM12878	blood:	n/a	n/a
2	BACH1	chr2:191401241-191401584	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:191400972-191401744	K562	blood:	n/a	n/a
4	MAZ	chr2:191401324-191401459	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:191401393-191401484	MCF10A-Er-Src	breast:	n/a	n/a
6	MTA3	chr2:191400801-191401594	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:191400943-191401449	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190702622..190704522-chr2:191400412..191402253,2	K562	blood:
2	chr2:191401207..191403475-chr2:191412047..191414173,2	K562	blood:
3	chr2:191173738..191175735-chr2:191400654..191403444,2	K562	blood:
4	chr2:191400232..191401979-chr2:191403177..191404874,2	MCF-7	breast:
5	chr2:191399578..191402391-chr2:191744786..191747033,2	K562	blood:
6	chr2:191401207..191403426-chr2:191411278..191414173,2	K562	blood:

No data

Variant related genes	Relation type
TMEM194B	TF binding region
ENSG00000115419	Chromatin interaction
ENSG00000235852	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10204628	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931455	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931459	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931460	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931464	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673788	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11673921	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11675051	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11677333	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685221	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11686226	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695681	0.86[EUR][1000 genomes]
rs11891641	0.88[ASN][1000 genomes]
rs13005335	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2159821	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2159822	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34101385	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34109383	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34703964	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34751744	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35954637	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36064835	0.87[EUR][1000 genomes]
rs3934784	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4324341	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4343493	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4384819	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4384820	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4597559	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4638823	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4853701	0.87[EUR][1000 genomes]
rs55784091	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55788736	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55884870	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55901912	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55918914	0.87[EUR][1000 genomes]
rs56094872	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56337518	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61730953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743479	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180964	0.85[EUR][1000 genomes]
rs62180981	0.85[EUR][1000 genomes]
rs62180988	0.85[EUR][1000 genomes]
rs62180989	0.86[EUR][1000 genomes]
rs62181001	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62181002	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62181014	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62181015	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62181017	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62181024	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181026	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181027	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181031	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62181032	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62181033	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62181035	0.88[ASN][1000 genomes]
rs62181036	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181053	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181057	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182861	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182863	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182864	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182892	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182893	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434404	0.95[ASN][1000 genomes]
rs6707836	0.87[EUR][1000 genomes]
rs6708018	0.87[EUR][1000 genomes]
rs6714829	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727054	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6742904	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6751217	0.88[ASN][1000 genomes]
rs6753226	0.80[EUR][1000 genomes]
rs6756354	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6757698	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72905231	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905290	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907168	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72911128	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7573621	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7721	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7574871	TMEM194B	cis	Thyroid	GTEx
rs7574871	TMEM194B	cis	Adipose Subcutaneous	GTEx
rs7574871	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs7574871	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs7574871	FLJ20160	cis	multi-tissue	Pritchard

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191399800-191402600	Weak transcription	Spleen	Spleen
2	chr2:191400000-191402400	Weak transcription	Ovary	ovary
3	chr2:191400000-191402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:191400000-191402600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:191400000-191402600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:191400000-191402600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:191400000-191402600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:191400000-191402600	Weak transcription	Brain Angular Gyrus	brain
9	chr2:191400000-191402600	Weak transcription	Esophagus	oesophagus
10	chr2:191400000-191402600	Weak transcription	Gastric	stomach
11	chr2:191400000-191402600	Weak transcription	Lung	lung
12	chr2:191400000-191402600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:191400000-191402600	Weak transcription	HSMMtube	muscle
14	chr2:191400200-191401600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:191400200-191401600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:191400200-191402600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:191400200-191402600	Weak transcription	Psoas Muscle	Psoas
18	chr2:191400400-191401800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:191400400-191402600	Weak transcription	Aorta	Aorta
20	chr2:191400400-191402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:191400600-191402000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:191400600-191402400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:191400600-191402400	Weak transcription	NHDF-Ad	bronchial
24	chr2:191400600-191402600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:191400600-191402600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:191400600-191402600	Weak transcription	Colonic Mucosa	Colon
27	chr2:191400600-191402600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:191400600-191402600	Weak transcription	Fetal Brain Male	brain
29	chr2:191400600-191402600	Weak transcription	Fetal Kidney	kidney
30	chr2:191400600-191402600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:191400600-191402600	Weak transcription	Right Atrium	heart
32	chr2:191400600-191402600	Weak transcription	Right Ventricle	heart
33	chr2:191400600-191402600	Weak transcription	Thymus	Thymus
34	chr2:191400600-191403000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:191400600-191404600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:191400800-191401600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:191400800-191401600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:191400800-191401600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:191400800-191401600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:191400800-191401600	Enhancers	Stomach Mucosa	stomach
41	chr2:191400800-191401600	Flanking Active TSS	Hela-S3	cervix
42	chr2:191400800-191401800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:191400800-191402000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:191400800-191402400	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:191400800-191402400	Weak transcription	Fetal Intestine Large	intestine
46	chr2:191400800-191402600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:191400800-191402600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:191400800-191402600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:191400800-191402600	Weak transcription	Placenta	Placenta
50	chr2:191400800-191402600	Weak transcription	Fetal Stomach	stomach

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