Variant report

Variant	rs6807246
Chromosome Location	chr3:158550776-158550777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158546388..158549031-chr3:158549491..158552747,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10936160	0.82[JPT][hapmap]
rs12493280	0.82[JPT][hapmap]
rs1604644	0.91[ASN][1000 genomes]
rs1870829	0.84[ASN][1000 genomes]
rs2364910	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35388278	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765083	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs4680470	0.91[CHB][hapmap]
rs4680471	0.82[ASN][1000 genomes]
rs60258899	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6778714	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6785502	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs751834	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7652579	0.82[AFR][1000 genomes]
rs905457	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9290029	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9839548	0.86[ASN][1000 genomes]
rs9846998	0.87[ASN][1000 genomes]
rs9855921	0.81[ASW][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs9861042	0.82[JPT][hapmap]
rs9877166	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv1014511	chr3:158516495-158715240	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6807246	MFSD1	cis	cerebellum	SCAN
rs6807246	SCHIP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158520400-158552400	Weak transcription	Stomach Mucosa	stomach
2	chr3:158527800-158554000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:158532200-158551800	Weak transcription	NHEK	skin
4	chr3:158532400-158557800	Weak transcription	Gastric	stomach
5	chr3:158533000-158551000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:158533000-158556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:158533000-158559600	Weak transcription	Right Ventricle	heart
8	chr3:158534400-158550800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:158535400-158551200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:158535400-158551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:158535600-158550800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:158535800-158550800	Strong transcription	Primary hematopoietic stem cells	blood
13	chr3:158537800-158550800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:158537800-158551000	Strong transcription	Adipose Nuclei	Adipose
15	chr3:158537800-158551000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:158541600-158552000	Weak transcription	Colonic Mucosa	Colon
17	chr3:158541800-158551200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:158541800-158551200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:158541800-158554200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:158541800-158555000	Weak transcription	Spleen	Spleen
21	chr3:158541800-158560200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:158542000-158556400	Weak transcription	Brain Germinal Matrix	brain
23	chr3:158542200-158552000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:158542200-158561000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:158542400-158553800	Weak transcription	Fetal Brain Female	brain
26	chr3:158542600-158558000	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:158543400-158551000	Weak transcription	NH-A	brain
28	chr3:158543400-158551600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:158543600-158550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:158543600-158551400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:158543600-158551400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:158543600-158553400	Weak transcription	NHLF	lung
33	chr3:158543600-158555200	Weak transcription	Esophagus	oesophagus
34	chr3:158544000-158556200	Weak transcription	Small Intestine	intestine
35	chr3:158545200-158550800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:158545600-158551800	Weak transcription	Fetal Intestine Small	intestine
37	chr3:158545600-158552400	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:158545800-158550800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:158546400-158565200	Weak transcription	Osteobl	bone
40	chr3:158546600-158550800	Strong transcription	Primary T cells from cord blood	blood
41	chr3:158546600-158551000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:158547200-158551000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:158548000-158551000	Weak transcription	NHDF-Ad	bronchial
44	chr3:158548000-158551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:158548400-158551000	Strong transcription	HSMM	muscle
46	chr3:158548600-158550800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:158548600-158550800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:158548600-158551200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:158548600-158551400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:158548600-158551600	Weak transcription	Duodenum Mucosa	Duodenum

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