Variant report

Variant	rs10064182
Chromosome Location	chr5:5341929-5341930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5340692..5342810-chr5:5421038..5423391,2	K562	blood:
2	chr5:5340352..5341979-chr5:5350239..5351757,2	K562	blood:

Variant related genes	Relation type
ENSG00000164151	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10078523	1.00[CEU][hapmap]
rs12659887	1.00[TSI][hapmap]
rs16874918	1.00[TSI][hapmap]
rs16875122	1.00[TSI][hapmap]
rs16875123	1.00[TSI][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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5336800-5343400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:5339600-5343600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:5339800-5342000	Enhancers	Adipose Nuclei	Adipose
4	chr5:5339800-5342600	Enhancers	NHEK	skin
5	chr5:5339800-5342800	Enhancers	HMEC	breast
6	chr5:5339800-5345000	Enhancers	NH-A	brain
7	chr5:5339800-5346600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:5340200-5342800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:5340400-5342000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:5340400-5346600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:5340600-5342000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:5340600-5343600	Weak transcription	Lung	lung
13	chr5:5340600-5344200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:5340800-5344000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:5340800-5344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:5341000-5342200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:5341000-5342400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:5341000-5342800	Enhancers	NHDF-Ad	bronchial
19	chr5:5341000-5343200	Enhancers	Osteobl	bone
20	chr5:5341000-5343400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:5341000-5343600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:5341000-5343600	Weak transcription	Fetal Stomach	stomach
23	chr5:5341000-5343600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:5341000-5343800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:5341000-5344200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:5341000-5344200	Weak transcription	Psoas Muscle	Psoas
27	chr5:5341000-5344400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:5341000-5344400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:5341000-5346400	Enhancers	Hela-S3	cervix
30	chr5:5341200-5342000	ZNF genes & repeats	Right Atrium	heart
31	chr5:5341200-5342800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:5341200-5343600	Enhancers	A549	lung
33	chr5:5341200-5344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:5341200-5344400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:5341400-5342000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:5341400-5342000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr5:5341400-5343400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:5341400-5343600	Weak transcription	Left Ventricle	heart
39	chr5:5341600-5342000	Enhancers	Esophagus	oesophagus
40	chr5:5341600-5348400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:5341800-5342000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:5341800-5342000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:5341800-5342000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:5341800-5342000	Enhancers	HSMM	muscle
45	chr5:5341800-5343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:5341800-5343800	Weak transcription	Fetal Muscle Leg	muscle

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