Variant report

Variant	rs3811607
Chromosome Location	chr2:191300402-191300403
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	SPI1	chr2:191300063-191300474	HL-60	blood:	n/a	chr2:191300212-191300225 chr2:191300214-191300221 chr2:191300213-191300222
2	RUNX3	chr2:191300003-191300415	GM12878	blood:	n/a	chr2:191300233-191300242
3	SPI1	chr2:191299944-191300509	HL-60	blood:	n/a	chr2:191300212-191300225 chr2:191300214-191300221 chr2:191300213-191300222

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191272728..191274553-chr2:191298568..191301564,2	MCF-7	breast:

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

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10182754	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10193212	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931452	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475614	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613807	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693574	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693575	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12998288	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13020324	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13409841	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2354877	0.96[MKK][hapmap];0.82[YRI][hapmap]
rs2354878	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35095338	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4853507	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4853702	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4853705	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853711	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4853713	0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434391	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6707691	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7557681	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7564829	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7596573	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603607	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9646748	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3811607	HIBCH	cis	cerebellum	SCAN
rs3811607	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs3811607	MFSD6	cis	lymphoblastoid	seeQTL
rs3811607	MSTN	cis	cerebellum	SCAN
rs3811607	MFSD6	cis	parietal	SCAN
rs3811607	ZC3H15	cis	cerebellum	SCAN
rs3811607	FLJ20160	cis	multi-tissue	Pritchard

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191273800-191301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191274800-191300800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:191278600-191301200	Weak transcription	Pancreas	Pancrea
4	chr2:191278800-191300800	Weak transcription	Fetal Thymus	thymus
5	chr2:191278800-191301200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:191279000-191300800	Weak transcription	Esophagus	oesophagus
7	chr2:191279200-191303000	Weak transcription	NHEK	skin
8	chr2:191282800-191301200	Weak transcription	Fetal Brain Male	brain
9	chr2:191283200-191301000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:191284200-191301000	Weak transcription	Gastric	stomach
11	chr2:191284200-191301200	Weak transcription	Right Ventricle	heart
12	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
13	chr2:191285600-191301000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:191287000-191300800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:191290400-191301200	Weak transcription	Brain Anterior Caudate	brain
16	chr2:191290800-191300800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:191292200-191300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:191292200-191301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:191293200-191301000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:191293200-191301200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:191293200-191301600	Weak transcription	A549	lung
22	chr2:191293400-191300600	Weak transcription	Dnd41	blood
23	chr2:191296400-191300800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:191296600-191300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:191296800-191300600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:191296800-191311400	Weak transcription	Fetal Lung	lung
27	chr2:191297000-191301200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:191297000-191301200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:191297000-191301600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:191297200-191300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:191297200-191300800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:191297200-191300800	Weak transcription	Colonic Mucosa	Colon
33	chr2:191297200-191300800	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:191297200-191300800	Weak transcription	Thymus	Thymus
35	chr2:191297200-191301000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:191297200-191301200	Weak transcription	Adipose Nuclei	Adipose
37	chr2:191297200-191301200	Weak transcription	Fetal Stomach	stomach
38	chr2:191297200-191301200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:191297200-191306200	Weak transcription	K562	blood
40	chr2:191297400-191300800	Weak transcription	Aorta	Aorta
41	chr2:191297400-191300800	Weak transcription	Fetal Intestine Large	intestine
42	chr2:191297400-191300800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:191297400-191301000	Weak transcription	Left Ventricle	heart
44	chr2:191297400-191301200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:191297400-191301200	Weak transcription	Ovary	ovary
46	chr2:191297400-191301200	Weak transcription	Spleen	Spleen
47	chr2:191297400-191305600	Weak transcription	Small Intestine	intestine
48	chr2:191297600-191300600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:191298400-191300800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:191298400-191304600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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