Variant report

Variant	rs1037299
Chromosome Location	chr7:112627954-112627955
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112623073..112625908-chr7:112627681..112629451,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1017598	1.00[AMR][1000 genomes]
rs1017599	1.00[AMR][1000 genomes]
rs10267651	1.00[AMR][1000 genomes]
rs1227166	1.00[AMR][1000 genomes]
rs1227167	1.00[AMR][1000 genomes]
rs1227169	1.00[AMR][1000 genomes]
rs1227170	1.00[AMR][1000 genomes]
rs1227173	1.00[AMR][1000 genomes]
rs1227180	1.00[AMR][1000 genomes]
rs1227186	1.00[AMR][1000 genomes]
rs1227191	1.00[AMR][1000 genomes]
rs1234894	1.00[AMR][1000 genomes]
rs1237908	1.00[AMR][1000 genomes]
rs1375856	1.00[AMR][1000 genomes]
rs1449950	1.00[AMR][1000 genomes]
rs1449952	1.00[AMR][1000 genomes]
rs1522630	1.00[AMR][1000 genomes]
rs1620709	1.00[AMR][1000 genomes]
rs1718933	1.00[AMR][1000 genomes]
rs1718942	1.00[AMR][1000 genomes]
rs1718953	1.00[AMR][1000 genomes]
rs1718962	1.00[AMR][1000 genomes]
rs1796515	1.00[AMR][1000 genomes]
rs1830470	1.00[AMR][1000 genomes]
rs1830471	1.00[AMR][1000 genomes]
rs1868586	1.00[AMR][1000 genomes]
rs1976990	1.00[AMR][1000 genomes]
rs2103040	1.00[AMR][1000 genomes]
rs2197953	1.00[AMR][1000 genomes]
rs2396584	1.00[AMR][1000 genomes]
rs2396585	1.00[AMR][1000 genomes]
rs2396587	1.00[AMR][1000 genomes]
rs2687263	1.00[AMR][1000 genomes]
rs2687268	1.00[AMR][1000 genomes]
rs2708294	1.00[AMR][1000 genomes]
rs28392728	0.82[YRI][hapmap]
rs2894660	1.00[AMR][1000 genomes]
rs4336532	1.00[AMR][1000 genomes]
rs4727777	1.00[AMR][1000 genomes]
rs501621	1.00[AMR][1000 genomes]
rs551461	1.00[AMR][1000 genomes]
rs637075	1.00[AMR][1000 genomes]
rs6466425	1.00[AMR][1000 genomes]
rs6949796	1.00[AMR][1000 genomes]
rs6950289	1.00[AMR][1000 genomes]
rs6951139	0.82[YRI][hapmap]
rs6972406	0.83[YRI][hapmap]
rs73715597	1.00[AMR][1000 genomes]
rs7776679	1.00[AMR][1000 genomes]
rs7790704	1.00[AMR][1000 genomes]
rs7790946	1.00[AMR][1000 genomes]
rs7792704	0.83[YRI][hapmap]
rs7799048	1.00[AMR][1000 genomes]
rs7810374	1.00[AMR][1000 genomes]
rs821784	1.00[AMR][1000 genomes]
rs821786	1.00[AMR][1000 genomes]
rs821788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112594200-112630400	Weak transcription	Left Ventricle	heart
2	chr7:112625000-112629000	Enhancers	HMEC	breast
3	chr7:112625000-112631200	Enhancers	Fetal Heart	heart
4	chr7:112625600-112628200	Enhancers	HSMM	muscle
5	chr7:112625800-112628600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:112625800-112629200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:112626200-112628400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:112626200-112628400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:112626400-112628600	Enhancers	Osteobl	bone
10	chr7:112626600-112628400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:112626600-112628600	Enhancers	NHLF	lung
12	chr7:112626600-112628800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:112626800-112628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:112626800-112628600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:112626800-112630400	Weak transcription	NHEK	skin
16	chr7:112626800-112631400	Enhancers	NH-A	brain
17	chr7:112627200-112628000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:112627200-112628200	Enhancers	HSMMtube	muscle
19	chr7:112627200-112628600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:112627200-112631400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:112627400-112631600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:112627800-112628000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr7:112627800-112629800	Weak transcription	NHDF-Ad	bronchial
24	chr7:112627800-112630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:112627800-112630400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:112627800-112635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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