Variant report

Variant	rs17080141
Chromosome Location	chr5:179695485-179695486
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
2	chr5:179695378..179697431-chr5:179716689..179720620,4	K562	blood:
3	chr5:179693858..179696723-chr5:179696767..179698335,2	K562	blood:

Variant related genes	Relation type
ENSG00000248367	Chromatin interaction
ENSG00000050748	Chromatin interaction

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

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

rs_ID	r²[population]
rs12657188	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042224	1.00[EUR][1000 genomes]
rs34735703	1.00[EUR][1000 genomes]
rs3749796	1.00[EUR][1000 genomes]
rs57618666	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
3	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr5:179657800-179697000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:179660800-179706800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:179665800-179696600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:179666000-179697000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr5:179668200-179696800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
9	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:179673600-179696600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr5:179673600-179697000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:179673600-179697000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr5:179673600-179701800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr5:179673600-179705400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:179673800-179696400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:179674200-179696200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:179674200-179696400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:179674200-179696800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr5:179674800-179696400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr5:179676400-179697400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr5:179676800-179696000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr5:179677000-179696400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
23	chr5:179677000-179703000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:179678200-179696800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr5:179679200-179696600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:179679400-179697400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr5:179681800-179705600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:179683600-179695600	ZNF genes & repeats	A549	lung
29	chr5:179685000-179696400	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr5:179687400-179696400	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr5:179688000-179696400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr5:179688400-179696200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:179690400-179696200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:179691200-179706200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:179692200-179696000	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr5:179692200-179696200	ZNF genes & repeats	Fetal Stomach	stomach
37	chr5:179692200-179696200	ZNF genes & repeats	Left Ventricle	heart
38	chr5:179692200-179696400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:179692200-179696600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr5:179692400-179695800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:179692800-179696600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:179692800-179697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:179692800-179705000	Weak transcription	Stomach Mucosa	stomach
44	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:179693000-179695800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr5:179693200-179695600	Strong transcription	Pancreas	Pancrea
47	chr5:179693200-179696200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr5:179693200-179696400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:179693600-179695600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:179693600-179695600	ZNF genes & repeats	Fetal Kidney	kidney

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