Variant report

Variant	rs10277087
Chromosome Location	chr7:100307538-100307539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100305178..100307806-chr7:100309002..100310752,2	K562	blood:
2	chr7:100305376..100308279-chr7:100309980..100311961,3	MCF-7	breast:
3	chr7:100302553..100308135-chr7:100314195..100322207,16	MCF-7	breast:
4	chr7:100304410..100307570-chr7:100307942..100309622,3	MCF-7	breast:
5	chr7:100302099..100306340-chr7:100306369..100309524,5	MCF-7	breast:
6	chr7:100303598..100306087-chr7:100306435..100308667,2	K562	blood:

Variant related genes	Relation type
ENSG00000130427	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10953301	0.89[JPT][hapmap]
rs11520986	0.89[JPT][hapmap]
rs11974395	0.89[JPT][hapmap]
rs11979818	0.89[JPT][hapmap]
rs11983334	0.89[JPT][hapmap]
rs1617640	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1734908	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1734909	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1734910	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075672	0.82[MEX][hapmap]
rs221771	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221772	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221788	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs221790	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs221795	1.00[ASW][hapmap];0.88[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs221801	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272572	0.89[JPT][hapmap]
rs2432930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727459	0.89[JPT][hapmap]
rs4729597	0.83[MEX][hapmap]
rs4729602	0.89[JPT][hapmap]
rs4729606	0.89[JPT][hapmap]
rs4729607	0.89[JPT][hapmap]
rs475339	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs504141	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs507392	0.94[ASW][hapmap];0.96[CEU][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs551238	0.94[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs554055	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs568733	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576236	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers 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	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10277087	MOSPD3	cis	Whole Blood	GTEx
rs10277087	DLX5	cis	cerebellum	SCAN
rs10277087	EPHB4	cis	multi-tissue	Pritchard
rs10277087	TSC22D4	cis	parietal	SCAN
rs10277087	PILRB	cis	cerebellum	SCAN
rs10277087	C10orf107	trans	parietal	SCAN
rs10277087	MEPCE	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100304800-100308600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:100305000-100307600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:100305000-100307800	Strong transcription	Fetal Stomach	stomach
4	chr7:100305000-100307800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:100305000-100309000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:100305000-100309200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:100305000-100309800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:100305000-100318000	Weak transcription	Right Atrium	heart
9	chr7:100305200-100307800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:100305200-100307800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:100305200-100308000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:100305200-100308000	Weak transcription	Right Ventricle	heart
13	chr7:100305200-100308200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:100305200-100308200	Weak transcription	Thymus	Thymus
15	chr7:100305200-100308400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:100305200-100308600	Weak transcription	NHDF-Ad	bronchial
17	chr7:100305200-100308800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:100305200-100308800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:100305200-100308800	Weak transcription	Colonic Mucosa	Colon
20	chr7:100305200-100309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:100305200-100309000	Weak transcription	Ovary	ovary
22	chr7:100305200-100309200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:100305200-100309200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:100305200-100310000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:100305200-100310200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:100305200-100310400	Weak transcription	Brain Anterior Caudate	brain
27	chr7:100305200-100311000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:100305200-100311800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:100305200-100313200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:100305200-100313400	Weak transcription	Brain Germinal Matrix	brain
31	chr7:100305200-100315000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:100305200-100318400	Weak transcription	Gastric	stomach
33	chr7:100305400-100308200	Weak transcription	Osteobl	bone
34	chr7:100305400-100308400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:100305400-100308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:100305400-100308800	Weak transcription	HMEC	breast
37	chr7:100305400-100309000	Weak transcription	Fetal Brain Female	brain
38	chr7:100305400-100309200	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:100305400-100309200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:100305400-100309400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:100305400-100309400	Weak transcription	A549	lung
42	chr7:100305400-100309400	Weak transcription	NHLF	lung
43	chr7:100305400-100309600	Enhancers	Liver	Liver
44	chr7:100305400-100311400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:100305400-100313000	Weak transcription	NH-A	brain
46	chr7:100305600-100312200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:100305800-100308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:100305800-100309000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:100305800-100309600	Weak transcription	Hela-S3	cervix
50	chr7:100306000-100309400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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