Variant report

Variant	rs4704716
Chromosome Location	chr5:80551241-80551242
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80547726..80550284-chr5:80550387..80553255,3	K562	blood:
2	chr5:80546433..80550284-chr5:80550387..80553828,5	K562	blood:

Variant related genes	Relation type
ENSG00000131730	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10041138	0.81[JPT][hapmap]
rs1039326	0.88[EUR][1000 genomes]
rs12516414	0.91[JPT][hapmap]
rs12652649	0.90[JPT][hapmap]
rs12653169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12653916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12654520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12657721	0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12659947	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16876403	0.90[JPT][hapmap]
rs16878586	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270824	0.80[JPT][hapmap]
rs2277037	0.90[JPT][hapmap]
rs2291942	1.00[JPT][hapmap]
rs4703828	0.91[JPT][hapmap]
rs4703829	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4704717	0.90[JPT][hapmap]
rs56270508	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57802618	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58471723	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59621118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61696419	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
2	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
4	chr5:80531200-80564200	Weak transcription	HepG2	liver
5	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
6	chr5:80532200-80556800	Weak transcription	Dnd41	blood
7	chr5:80538400-80551400	Weak transcription	GM12878-XiMat	blood
8	chr5:80539000-80555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:80541800-80564400	Weak transcription	A549	lung
10	chr5:80542200-80557000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:80543000-80554200	Weak transcription	Pancreas	Pancrea
12	chr5:80543800-80565600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:80544000-80557000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:80544000-80564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:80544000-80564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:80544200-80561400	Weak transcription	NHLF	lung
17	chr5:80544200-80564600	Weak transcription	HSMMtube	muscle
18	chr5:80544400-80551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:80545200-80554400	Weak transcription	Ovary	ovary
20	chr5:80545200-80555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:80545400-80565200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:80545800-80564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:80546200-80552000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:80546600-80552000	Weak transcription	Fetal Brain Female	brain
25	chr5:80546600-80552400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:80546600-80552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:80546600-80552800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:80546600-80556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:80546600-80564600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:80547000-80551400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr5:80547200-80553800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:80547600-80555600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:80547800-80555400	Strong transcription	Aorta	Aorta
34	chr5:80548200-80555600	Strong transcription	Fetal Muscle Leg	muscle
35	chr5:80548200-80557600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:80548200-80559400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:80548400-80555600	Strong transcription	Right Ventricle	heart
38	chr5:80548600-80551400	Strong transcription	Fetal Intestine Small	intestine
39	chr5:80548800-80554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:80548800-80554200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:80548800-80554600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:80548800-80559400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:80548800-80568000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:80549000-80554800	Weak transcription	Brain Angular Gyrus	brain
45	chr5:80549200-80561400	Weak transcription	Liver	Liver
46	chr5:80549200-80562000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:80549400-80551600	Strong transcription	Fetal Heart	heart
48	chr5:80549400-80552400	Weak transcription	Brain Anterior Caudate	brain
49	chr5:80549400-80552800	Weak transcription	Esophagus	oesophagus
50	chr5:80549400-80554400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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