Variant report

Variant	rs1509295
Chromosome Location	chr4:126319751-126319752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10006602	1.00[EUR][1000 genomes]
rs10857105	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11932005	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11942648	0.81[AFR][1000 genomes]
rs12711125	0.81[AFR][1000 genomes]
rs13119663	1.00[EUR][1000 genomes]
rs13132307	0.81[AFR][1000 genomes]
rs13144799	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13144803	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1354711	1.00[EUR][1000 genomes]
rs1354712	1.00[EUR][1000 genomes]
rs1395232	1.00[EUR][1000 genomes]
rs1395234	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1395235	1.00[EUR][1000 genomes]
rs1395242	1.00[EUR][1000 genomes]
rs1396687	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1396700	0.91[AFR][1000 genomes]
rs1506356	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1506358	1.00[EUR][1000 genomes]
rs1509288	0.81[AFR][1000 genomes]
rs1509293	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1509294	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1509296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509301	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1553713	1.00[EUR][1000 genomes]
rs1605825	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1605826	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1605827	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1911107	1.00[EUR][1000 genomes]
rs1912041	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1912042	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1983118	1.00[EUR][1000 genomes]
rs2036723	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2055768	0.81[AFR][1000 genomes]
rs2102461	0.81[AFR][1000 genomes]
rs2390835	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2663253	0.81[AFR][1000 genomes]
rs2710577	0.81[AFR][1000 genomes]
rs2710581	0.81[AFR][1000 genomes]
rs28566737	1.00[EUR][1000 genomes]
rs4508902	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4834029	0.81[AFR][1000 genomes]
rs4834032	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4834033	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4834034	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4834036	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4834037	1.00[EUR][1000 genomes]
rs4834038	1.00[EUR][1000 genomes]
rs6534479	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6833240	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6844307	0.81[AFR][1000 genomes]
rs6851018	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72914988	1.00[EUR][1000 genomes]
rs7656590	1.00[EUR][1000 genomes]
rs7660088	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7660325	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7667605	1.00[EUR][1000 genomes]
rs7675556	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7678076	1.00[EUR][1000 genomes]
rs906793	0.81[AFR][1000 genomes]
rs906794	0.81[AFR][1000 genomes]
rs925241	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs958415	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs988933	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9994836	1.00[EUR][1000 genomes]
rs9996895	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
2	chr4:126310800-126336000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:126311600-126336000	Weak transcription	Aorta	Aorta
4	chr4:126311800-126323000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:126311800-126341800	Weak transcription	Fetal Heart	heart
6	chr4:126311800-126343600	Weak transcription	Fetal Stomach	stomach
7	chr4:126312000-126338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:126312000-126354400	Weak transcription	HSMM	muscle
9	chr4:126312200-126342800	Weak transcription	NHLF	lung
10	chr4:126315600-126319800	Weak transcription	Adipose Nuclei	Adipose
11	chr4:126316000-126319800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:126316000-126329200	Weak transcription	NHDF-Ad	bronchial
13	chr4:126316400-126319800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:126316800-126336200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:126318000-126336200	Weak transcription	Fetal Brain Male	brain
17	chr4:126318200-126320200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:126318400-126319800	Enhancers	Fetal Kidney	kidney
19	chr4:126318400-126320000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:126318400-126320200	Enhancers	Fetal Lung	lung
21	chr4:126318600-126320800	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:126318800-126319800	Enhancers	HUVEC	blood vessel
23	chr4:126319000-126338000	Weak transcription	Fetal Brain Female	brain
24	chr4:126319000-126343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:126319200-126320200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:126319200-126320800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:126319400-126319800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:126319400-126319800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:126319400-126320000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:126319600-126319800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:126319600-126319800	Enhancers	Colon Smooth Muscle	Colon
32	chr4:126319600-126320200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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