Variant report

Variant	rs17464446
Chromosome Location	chr5:95200112-95200113
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95199646..95202540-chr5:95204108..95206460,2	MCF-7	breast:
2	chr5:95199907..95202755-chr5:95294565..95297525,3	MCF-7	breast:
3	chr5:95193159..95197035-chr5:95199083..95201765,3	K562	blood:
4	chr5:95177864..95180977-chr5:95197821..95200225,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11135439	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs154447	1.00[CHB][hapmap]
rs17085164	1.00[ASN][1000 genomes]
rs17463444	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[ASN][1000 genomes]
rs17463911	1.00[ASN][1000 genomes]
rs248339	1.00[CHB][hapmap]
rs248342	1.00[CHB][hapmap]
rs257683	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28926194	1.00[ASN][1000 genomes]
rs35129919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60575087	1.00[ASN][1000 genomes]
rs6556889	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[ASN][1000 genomes]
rs6888777	1.00[ASN][1000 genomes]
rs6891719	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95192000-95201400	Enhancers	Placenta	Placenta
3	chr5:95194000-95200800	Weak transcription	Gastric	stomach
4	chr5:95194200-95203000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:95195000-95200200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:95195000-95200600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:95195000-95206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:95195000-95208400	Weak transcription	Ovary	ovary
9	chr5:95195200-95200600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:95195200-95217400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:95195400-95201600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:95195600-95206200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:95195800-95201000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:95195800-95201200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:95195800-95201200	Enhancers	NHLF	lung
16	chr5:95196800-95202000	Enhancers	Fetal Intestine Small	intestine
17	chr5:95196800-95203000	Enhancers	Fetal Intestine Large	intestine
18	chr5:95197000-95201200	Enhancers	Left Ventricle	heart
19	chr5:95197000-95201800	Enhancers	Stomach Mucosa	stomach
20	chr5:95197200-95201200	Enhancers	NHDF-Ad	bronchial
21	chr5:95197200-95203200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:95197400-95200600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:95197400-95201200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:95197800-95200400	Enhancers	Adipose Nuclei	Adipose
25	chr5:95197800-95201200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:95197800-95204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:95198200-95202600	Weak transcription	HMEC	breast
28	chr5:95198600-95206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:95198800-95200400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:95198800-95200600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:95199000-95200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:95199000-95204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:95199000-95204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:95199200-95200200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:95199200-95200200	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:95199200-95200400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:95199200-95200600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:95199200-95200600	Weak transcription	Right Atrium	heart
39	chr5:95199200-95202000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:95199200-95202600	Weak transcription	NH-A	brain
41	chr5:95199200-95206000	Weak transcription	Fetal Heart	heart
42	chr5:95199400-95200400	Enhancers	Hela-S3	cervix
43	chr5:95199400-95200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:95199400-95200600	Weak transcription	Liver	Liver
45	chr5:95199400-95200600	Weak transcription	Lung	lung
46	chr5:95199400-95200600	Weak transcription	Pancreas	Pancrea
47	chr5:95199400-95200800	Weak transcription	A549	lung
48	chr5:95199400-95201000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:95199400-95202000	Weak transcription	GM12878-XiMat	blood
50	chr5:95199400-95203200	Enhancers	Osteobl	bone

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