Variant report

Variant	rs2950847
Chromosome Location	chr5:90432842-90432843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90432118..90434850-chr5:90676210..90677889,2	MCF-7	breast:
2	chr5:90428715..90430983-chr5:90431555..90434018,2	MCF-7	breast:
3	chr5:90431718..90433911-chr5:90674779..90676496,2	K562	blood:
4	chr5:90431718..90434313-chr5:90674996..90677610,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12173182	1.00[AFR][1000 genomes]
rs12697806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16869547	1.00[AFR][1000 genomes]
rs16869566	1.00[AFR][1000 genomes]
rs16869570	1.00[AFR][1000 genomes]
rs1972326	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1972327	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2950848	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2950857	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2950859	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2973440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2973443	1.00[AFR][1000 genomes]
rs4469219	0.96[ASN][1000 genomes]
rs7736334	1.00[AFR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90418600-90435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:90422800-90440600	Weak transcription	Fetal Kidney	kidney
3	chr5:90423600-90440400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:90424600-90435200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:90424600-90440200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:90425400-90437000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:90425400-90440200	Weak transcription	Brain Germinal Matrix	brain
8	chr5:90428000-90439200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:90428600-90438200	Weak transcription	HUVEC	blood vessel
10	chr5:90430200-90440000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:90430400-90437600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:90431000-90434000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:90431000-90434000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:90431000-90434000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:90431000-90434000	Enhancers	HMEC	breast
16	chr5:90431000-90434000	Enhancers	NHEK	skin
17	chr5:90431800-90437600	Weak transcription	Right Atrium	heart
18	chr5:90432000-90435400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:90432000-90437600	Weak transcription	Pancreas	Pancrea
20	chr5:90432000-90438800	Weak transcription	Esophagus	oesophagus
21	chr5:90432000-90444000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:90432200-90433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:90432200-90435200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:90432200-90435600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:90432200-90437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:90432400-90437400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:90432400-90437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:90432400-90437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:90432400-90444200	Weak transcription	A549	lung

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