Variant report

Variant	rs4261750
Chromosome Location	chr2:191306726-191306727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr2:191306614-191306755	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191302906..191304417-chr2:191305140..191306765,2	K562	blood:
2	chr2:191300907..191304417-chr2:191304488..191309004,4	K562	blood:

Variant related genes	Relation type
MFSD6	TF binding region
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10084203	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174174	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10188341	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10190082	0.85[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10197348	0.92[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10432434	0.81[ASN][1000 genomes]
rs10931451	0.90[ASN][1000 genomes]
rs10931458	0.85[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1128723	0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11885992	0.80[ASN][1000 genomes]
rs12052514	0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12053190	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12172905	0.90[ASN][1000 genomes]
rs12470863	0.81[EUR][1000 genomes]
rs12472081	0.90[CHD][hapmap];0.95[JPT][hapmap]
rs12693579	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13417431	0.97[ASN][1000 genomes]
rs16832765	0.85[JPT][hapmap]
rs1866851	0.90[ASN][1000 genomes]
rs4129082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258824	0.84[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4287794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4340549	0.81[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4439990	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4641969	0.85[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4853510	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4853710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4853716	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56127319	0.96[ASN][1000 genomes]
rs56342910	0.92[ASN][1000 genomes]
rs59929070	0.93[ASN][1000 genomes]
rs60915953	0.81[ASN][1000 genomes]
rs61709084	0.97[ASN][1000 genomes]
rs62180987	0.90[ASN][1000 genomes]
rs62180990	0.88[ASN][1000 genomes]
rs62180992	0.97[ASN][1000 genomes]
rs62181018	0.93[ASN][1000 genomes]
rs62181019	0.93[ASN][1000 genomes]
rs62181020	0.93[ASN][1000 genomes]
rs62181034	0.80[ASN][1000 genomes]
rs6712426	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6727669	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6731287	0.81[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7567059	0.81[ASN][1000 genomes]
rs7569128	0.85[JPT][hapmap]
rs7581762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581986	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4261750	MFSD6	cis	cerebellum	SCAN
rs4261750	HIBCH	cis	parietal	SCAN
rs4261750	INPP1	cis	cerebellum	SCAN
rs4261750	MSTN	cis	cerebellum	SCAN
rs4261750	INPP1	cis	parietal	SCAN

Chromatin state (count:78 , 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	chr2:191298600-191309000	Weak transcription	Stomach Mucosa	stomach
4	chr2:191299600-191308800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:191301200-191307000	Weak transcription	Fetal Heart	heart
6	chr2:191302000-191307800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:191302200-191307200	Weak transcription	Aorta	Aorta
8	chr2:191302200-191307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:191302200-191308400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:191302200-191311200	Weak transcription	Fetal Stomach	stomach
11	chr2:191302200-191311400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:191302200-191319200	Weak transcription	Fetal Intestine Small	intestine
13	chr2:191302200-191321200	Weak transcription	Esophagus	oesophagus
14	chr2:191302400-191307200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:191302400-191307400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:191302400-191308400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:191302400-191331000	Weak transcription	A549	lung
18	chr2:191302600-191307000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:191302600-191309000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:191302600-191309400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:191302600-191310600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:191302600-191311000	Weak transcription	Fetal Brain Male	brain
23	chr2:191302800-191307800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:191302800-191308600	Weak transcription	Colonic Mucosa	Colon
25	chr2:191302800-191317200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:191302800-191319400	Weak transcription	Fetal Brain Female	brain
27	chr2:191302800-191320200	Weak transcription	Fetal Thymus	thymus
28	chr2:191302800-191321200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:191303400-191310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:191303400-191311000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:191303400-191311200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:191303400-191321000	Weak transcription	Thymus	Thymus
33	chr2:191303400-191321200	Weak transcription	Dnd41	blood
34	chr2:191303600-191309000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:191303600-191310200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:191303600-191321000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:191303800-191308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:191303800-191308400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:191303800-191321000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:191303800-191331600	Weak transcription	Brain Germinal Matrix	brain
41	chr2:191303800-191332600	Weak transcription	Fetal Intestine Large	intestine
42	chr2:191304000-191307400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:191304000-191308400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:191304000-191311000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:191304400-191313200	Enhancers	Brain Hippocampus Middle	brain
46	chr2:191305000-191307200	Enhancers	GM12878-XiMat	blood
47	chr2:191305000-191309000	Weak transcription	Primary B cells from cord blood	blood
48	chr2:191305200-191308000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:191305400-191307000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:191305400-191308000	Enhancers	Brain Anterior Caudate	brain

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