Variant report

Variant	rs1748356
Chromosome Location	chr10:26994345-26994346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26985752..26988058-chr10:26992017..26994907,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148459	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10829053	0.81[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs11015236	0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11015237	0.91[ASN][1000 genomes]
rs11015238	0.91[ASN][1000 genomes]
rs11015239	0.91[ASN][1000 genomes]
rs11015245	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs11015249	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs12245888	0.91[ASN][1000 genomes]
rs12252759	0.89[ASN][1000 genomes]
rs1677728	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1677730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1780179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1780180	1.00[CEU][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1780181	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1780182	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1780184	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1780192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2448107	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2477295	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2477297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477298	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs2489581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][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]
rs3118155	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749181	0.81[ASN][1000 genomes]
rs6482571	0.91[ASN][1000 genomes]
rs7090448	0.87[ASN][1000 genomes]
rs7100835	0.88[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv1798973	chr10:26968171-27001814	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550233	chr10:26968171-27011323	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1748356	ABI1	cis	cerebellum	SCAN
rs1748356	LOC387646	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-26994400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:26987600-26994800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:26987600-26994800	Weak transcription	Brain Substantia Nigra	brain
4	chr10:26987600-26994800	Weak transcription	Esophagus	oesophagus
5	chr10:26987600-26994800	Weak transcription	Ovary	ovary
6	chr10:26987600-26994800	Weak transcription	HSMMtube	muscle
7	chr10:26987600-26995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:26987600-26995000	Weak transcription	Gastric	stomach
9	chr10:26987600-26995000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:26987600-26996200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:26987600-26996200	Weak transcription	Pancreas	Pancrea
12	chr10:26987600-26996800	Weak transcription	Aorta	Aorta
13	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
15	chr10:26987800-26994800	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:26987800-26994800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:26987800-26995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
21	chr10:26988000-26994400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:26988000-26994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:26988000-26994600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:26988000-26994600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr10:26988000-26994600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:26988000-26994600	Weak transcription	Adipose Nuclei	Adipose
27	chr10:26988000-26994800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr10:26988000-26994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:26988000-26994800	Weak transcription	Fetal Brain Female	brain
30	chr10:26988000-26994800	Weak transcription	Fetal Lung	lung
31	chr10:26988000-26994800	Weak transcription	Spleen	Spleen
32	chr10:26988000-26995000	Weak transcription	NHLF	lung
33	chr10:26988000-26995200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:26988000-26995400	Weak transcription	Placenta	Placenta
35	chr10:26988000-26995800	Weak transcription	Brain Angular Gyrus	brain
36	chr10:26988000-26996200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:26988000-26996400	Weak transcription	HSMM	muscle
38	chr10:26988000-26996400	Weak transcription	Osteobl	bone
39	chr10:26988000-26996600	Weak transcription	HUVEC	blood vessel
40	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:26988200-26994400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:26988200-26994400	Weak transcription	Left Ventricle	heart
43	chr10:26988200-26994600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:26988200-26994600	Weak transcription	Fetal Muscle Leg	muscle
45	chr10:26988200-26994800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:26988200-26994800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr10:26988200-26995200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:26988200-26995200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr10:26988200-26995200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr10:26988200-26996000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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