Variant report

Variant	rs2351298
Chromosome Location	chr4:47215553-47215554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10938473	0.87[YRI][hapmap]
rs1542097	0.85[YRI][hapmap]
rs2119780	0.82[YRI][hapmap]
rs6447535	0.85[YRI][hapmap]
rs6819839	0.85[YRI][hapmap]
rs6827925	0.85[YRI][hapmap]
rs6845165	1.00[YRI][hapmap]
rs994447	0.85[YRI][hapmap]

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	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv879003	chr4:47102993-47215939	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47209200-47215600	Weak transcription	Fetal Heart	heart
2	chr4:47211600-47217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:47211800-47216200	Weak transcription	NHLF	lung
4	chr4:47212000-47216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:47212000-47216200	Weak transcription	HSMMtube	muscle
6	chr4:47212600-47215800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:47213200-47216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:47213200-47216200	Weak transcription	HMEC	breast
9	chr4:47213200-47216400	Weak transcription	HSMM	muscle
10	chr4:47214200-47218400	Enhancers	NH-A	brain
11	chr4:47214400-47216200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:47214600-47216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:47214600-47226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:47214800-47215600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:47214800-47216000	Enhancers	Brain Cingulate Gyrus	brain
16	chr4:47215000-47215600	Enhancers	Brain Anterior Caudate	brain
17	chr4:47215000-47215600	Enhancers	Brain Hippocampus Middle	brain
18	chr4:47215000-47215800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:47215000-47215800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:47215000-47216200	Enhancers	Osteobl	bone
21	chr4:47215000-47216600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr4:47215000-47218400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:47215200-47216200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:47215200-47216600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:47215400-47215600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:47215400-47215800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:47215400-47216200	Active TSS	Brain Substantia Nigra	brain
28	chr4:47215400-47216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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