Variant report

Variant	rs1972326
Chromosome Location	chr5:90425409-90425410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90413771..90418676-chr5:90419460..90425678,7	K562	blood:
2	chr5:90422108..90424996-chr5:90425060..90427954,3	K562	blood:
3	chr5:90419568..90422226-chr5:90422771..90425466,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12697806	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1972327	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2950847	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2950848	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2950857	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2950859	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2973440	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4469219	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90401600-90431800	Weak transcription	K562	blood
2	chr5:90403000-90431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:90403200-90431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:90416000-90430000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:90418600-90435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:90419800-90431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:90420600-90425800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:90420600-90425800	Enhancers	Colon Smooth Muscle	Colon
9	chr5:90421600-90425800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:90421800-90425600	Enhancers	A549	lung
11	chr5:90422800-90440600	Weak transcription	Fetal Kidney	kidney
12	chr5:90423000-90428400	Weak transcription	Gastric	stomach
13	chr5:90423000-90431000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:90423400-90431600	Weak transcription	Right Atrium	heart
15	chr5:90423600-90440400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:90423800-90426000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:90424000-90430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:90424000-90431600	Weak transcription	NH-A	brain
19	chr5:90424600-90426600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:90424600-90431600	Weak transcription	Esophagus	oesophagus
21	chr5:90424600-90431600	Weak transcription	Pancreas	Pancrea
22	chr5:90424600-90431600	Weak transcription	Hela-S3	cervix
23	chr5:90424600-90435200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:90424600-90440200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:90425000-90431600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:90425400-90429000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:90425400-90437000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:90425400-90440200	Weak transcription	Brain Germinal Matrix	brain

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