Variant report

Variant	rs11955394
Chromosome Location	chr5:179678405-179678406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179647507..179649585-chr5:179676137..179678589,2	K562	blood:
2	chr5:179655112..179657294-chr5:179678114..179680572,2	MCF-7	breast:
3	chr5:179672853..179674649-chr5:179677666..179679886,2	MCF-7	breast:
4	chr5:179668812..179671072-chr5:179675335..179678649,3	MCF-7	breast:
5	chr5:179670436..179673688-chr5:179675507..179679295,5	K562	blood:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1127615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743530	1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs11743623	1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs11956696	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs13164011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190345	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17080153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs33979712	0.89[ASN][1000 genomes]
rs33998980	1.00[ASN][1000 genomes]
rs6869542	0.88[ASN][1000 genomes]
rs6872534	0.88[ASN][1000 genomes]
rs6885325	0.88[ASN][1000 genomes]
rs6898670	0.89[ASN][1000 genomes]
rs6898872	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7702792	0.88[ASN][1000 genomes]
rs7730064	0.85[JPT][hapmap]
rs7730091	0.82[JPT][hapmap]

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:102 , 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	chr5:179655000-179679600	Weak transcription	Stomach Mucosa	stomach
3	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
4	chr5:179656600-179703000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr5:179657800-179697000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:179658400-179679200	Strong transcription	Primary T cells from cord blood	blood
7	chr5:179658800-179680400	Weak transcription	Fetal Kidney	kidney
8	chr5:179660200-179679800	Weak transcription	HUVEC	blood vessel
9	chr5:179660800-179706800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:179665800-179696600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:179666000-179697000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr5:179668200-179696800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
13	chr5:179669400-179683600	Weak transcription	K562	blood
14	chr5:179670200-179681600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:179671200-179694000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr5:179673600-179691400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:179673600-179694800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr5:179673600-179695200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr5:179673600-179696600	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr5:179673600-179697000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:179673600-179697000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr5:179673600-179701800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr5:179673600-179705400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:179673800-179696400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:179674200-179679800	ZNF genes & repeats	GM12878-XiMat	blood
27	chr5:179674200-179680800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:179674200-179680800	ZNF genes & repeats	Aorta	Aorta
29	chr5:179674200-179680800	ZNF genes & repeats	Esophagus	oesophagus
30	chr5:179674200-179680800	ZNF genes & repeats	Gastric	stomach
31	chr5:179674200-179684800	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr5:179674200-179685000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:179674200-179685000	ZNF genes & repeats	Colonic Mucosa	Colon
34	chr5:179674200-179685000	ZNF genes & repeats	Lung	lung
35	chr5:179674200-179685000	ZNF genes & repeats	Spleen	Spleen
36	chr5:179674200-179685200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:179674200-179686000	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr5:179674200-179686200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr5:179674200-179687000	ZNF genes & repeats	Left Ventricle	heart
40	chr5:179674200-179691400	ZNF genes & repeats	Ovary	ovary
41	chr5:179674200-179691400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr5:179674200-179696200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:179674200-179696400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:179674200-179696800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr5:179674400-179680000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:179674400-179682200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:179674400-179692800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr5:179674400-179694800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:179674600-179694000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr5:179674800-179681000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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