Variant report

Variant	rs7562013
Chromosome Location	chr2:191400972-191400973
allele	G/T
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:5)
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	CTCF	chr2:191400940-191401090	RPTEC	kidney:	n/a	n/a
2	JUN	chr2:191400885-191401241	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:191400972-191401744	K562	blood:	n/a	n/a
4	MTA3	chr2:191400801-191401594	GM12878	blood:	n/a	n/a
5	RFX5	chr2:191400454-191401005	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr2:191400802-191400985	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:191400943-191401449	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190702622..190704522-chr2:191400412..191402253,2	K562	blood:
2	chr2:191173738..191175735-chr2:191400654..191403444,2	K562	blood:
3	chr2:191400232..191401979-chr2:191403177..191404874,2	MCF-7	breast:
4	chr2:191397736..191401145-chr2:191512338..191515436,3	K562	blood:
5	chr2:191399578..191402391-chr2:191744786..191747033,2	K562	blood:

No data

Variant related genes	Relation type
TMEM194B	TF binding region
ENSG00000235852	Chromatin interaction
ENSG00000138386	Chromatin interaction
ENSG00000115419	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10169169	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10173975	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185147	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10189140	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202274	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204342	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208737	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[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10211375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737936	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap]
rs11553601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11695439	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[ASN][1000 genomes]
rs13031452	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13386210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13388162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13395233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405215	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410179	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13412663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13412823	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13412835	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13412879	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13417310	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418943	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13429315	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1837686	0.87[ASN][1000 genomes]
rs3811608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4283453	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4853712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56715527	0.84[ASN][1000 genomes]
rs58210597	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58253207	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58433478	0.92[ASN][1000 genomes]
rs58708643	0.87[ASN][1000 genomes]
rs6434401	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap]
rs6717050	0.97[ASN][1000 genomes]
rs72903349	0.82[ASN][1000 genomes]
rs72903383	0.86[ASN][1000 genomes]
rs72905242	0.92[ASN][1000 genomes]
rs73054092	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560045	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574844	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594994	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7609330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894072	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs8962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9288174	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];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967829	0.83[CEU][hapmap];0.82[CHB][hapmap]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7562013	MFSD6	cis	lymphoblastoid	seeQTL
rs7562013	TMEM194B	cis	cerebellum	SCAN
rs7562013	FLJ20160	cis	multi-tissue	Pritchard
rs7562013	MFSD6	cis	parietal	SCAN
rs7562013	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs7562013	ASNSD1	cis	parietal	SCAN
rs7562013	NAB1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191397800-191401000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr2:191398000-191401000	Active TSS	GM12878-XiMat	blood
3	chr2:191398200-191401200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:191399200-191401000	Active TSS	K562	blood
5	chr2:191399600-191401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:191399800-191401000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:191399800-191401000	Active TSS	HMEC	breast
8	chr2:191399800-191402600	Weak transcription	Spleen	Spleen
9	chr2:191400000-191401000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:191400000-191401000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:191400000-191401000	Weak transcription	Left Ventricle	heart
12	chr2:191400000-191401200	Weak transcription	Pancreas	Pancrea
13	chr2:191400000-191401400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:191400000-191402400	Weak transcription	Ovary	ovary
15	chr2:191400000-191402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:191400000-191402600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:191400000-191402600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:191400000-191402600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:191400000-191402600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:191400000-191402600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:191400000-191402600	Weak transcription	Esophagus	oesophagus
22	chr2:191400000-191402600	Weak transcription	Gastric	stomach
23	chr2:191400000-191402600	Weak transcription	Lung	lung
24	chr2:191400000-191402600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:191400000-191402600	Weak transcription	HSMMtube	muscle
26	chr2:191400200-191401000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:191400200-191401000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:191400200-191401200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:191400200-191401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:191400200-191401400	Enhancers	Brain Substantia Nigra	brain
31	chr2:191400200-191401600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:191400200-191401600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:191400200-191402600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:191400200-191402600	Weak transcription	Psoas Muscle	Psoas
35	chr2:191400400-191401000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:191400400-191401200	Active TSS	Primary B cells from cord blood	blood
37	chr2:191400400-191401200	Flanking Active TSS	A549	lung
38	chr2:191400400-191401200	Flanking Active TSS	Dnd41	blood
39	chr2:191400400-191401400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:191400400-191401400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:191400400-191401400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:191400400-191401400	Enhancers	Liver	Liver
43	chr2:191400400-191401800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:191400400-191402600	Weak transcription	Aorta	Aorta
45	chr2:191400400-191402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:191400600-191401000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:191400600-191401000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:191400600-191401200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:191400600-191401200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:191400600-191401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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