Variant report

Variant	rs1509300
Chromosome Location	chr4:126322919-126322920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10857105	1.00[YRI][hapmap]
rs12711125	1.00[YRI][hapmap]
rs1396700	1.00[YRI][hapmap]
rs1509296	1.00[YRI][hapmap]
rs1509297	1.00[YRI][hapmap]
rs1509298	1.00[YRI][hapmap]
rs1509301	1.00[YRI][hapmap]
rs7660088	1.00[YRI][hapmap]

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:28 , 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	chr4:126316000-126329200	Weak transcription	NHDF-Ad	bronchial
11	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:126316800-126336200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:126318000-126336200	Weak transcription	Fetal Brain Male	brain
14	chr4:126319000-126338000	Weak transcription	Fetal Brain Female	brain
15	chr4:126319000-126343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:126319800-126336200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:126320000-126332000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:126320000-126343400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:126320200-126328000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:126320200-126329200	Weak transcription	HUVEC	blood vessel
21	chr4:126320200-126336400	Weak transcription	Adipose Nuclei	Adipose
22	chr4:126320200-126354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:126320600-126344400	Weak transcription	Lung	lung
24	chr4:126320800-126330800	Weak transcription	Fetal Kidney	kidney
25	chr4:126322200-126323000	Enhancers	Fetal Lung	lung
26	chr4:126322200-126323200	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:126322400-126323200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:126322800-126323200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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