Variant report

Variant	rs1034958
Chromosome Location	chr7:16101765-16101766
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16101293..16103976-chr7:16112163..16114440,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10950599	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769952	0.80[EUR][1000 genomes]
rs13225542	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528137	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1528148	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1881241	0.80[EUR][1000 genomes]
rs2056419	0.89[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs2056420	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs56064186	0.80[ASN][1000 genomes]
rs6461221	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6945278	0.81[EUR][1000 genomes]
rs6945873	0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6965576	0.82[EUR][1000 genomes]
rs875127	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs969610	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv517991	chr7:16042596-16104327	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1034958	TWIST1	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16091800-16103000	Weak transcription	Right Atrium	heart
2	chr7:16096000-16106600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:16099200-16106600	Enhancers	Fetal Lung	lung
4	chr7:16099600-16103600	Weak transcription	Left Ventricle	heart
5	chr7:16100000-16101800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:16100000-16101800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:16100000-16101800	Enhancers	HUVEC	blood vessel
8	chr7:16100000-16102000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:16100000-16104200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:16100200-16102200	Enhancers	NHDF-Ad	bronchial
11	chr7:16100200-16103600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:16100200-16103800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:16100400-16103000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:16100600-16102400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:16100800-16103000	Enhancers	Adipose Nuclei	Adipose
16	chr7:16100800-16103800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:16101000-16106200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:16101200-16103000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:16101200-16103800	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:16101400-16101800	Bivalent Enhancer	NH-A	brain
21	chr7:16101400-16102200	Enhancers	Colon Smooth Muscle	Colon
22	chr7:16101400-16102200	Enhancers	NHLF	lung
23	chr7:16101400-16103000	Enhancers	Osteobl	bone
24	chr7:16101400-16103600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:16101600-16101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:16101600-16101800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:16101600-16101800	Enhancers	Fetal Kidney	kidney
28	chr7:16101600-16101800	Enhancers	Fetal Muscle Leg	muscle
29	chr7:16101600-16101800	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:16101600-16102000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:16101600-16102000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:16101600-16102000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:16101600-16102000	Enhancers	Fetal Stomach	stomach
34	chr7:16101600-16102000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:16101600-16102000	Enhancers	HSMMtube	muscle
36	chr7:16101600-16102200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:16101600-16102400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:16101600-16102800	Enhancers	Liver	Liver
39	chr7:16101600-16103400	Enhancers	Primary T cells from cord blood	blood
40	chr7:16101600-16103400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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