Variant report

Variant	rs57679720
Chromosome Location	chr5:147827770-147827771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147827683..147829449-chr5:148064481..148067259,2	K562	blood:
2	chr5:147763443..147765235-chr5:147826479..147828937,2	K562	blood:

Variant related genes	Relation type
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10037368	1.00[AMR][1000 genomes]
rs10040393	1.00[AMR][1000 genomes]
rs10040505	1.00[AMR][1000 genomes]
rs10042851	1.00[AMR][1000 genomes]
rs10044087	1.00[AMR][1000 genomes]
rs10045091	1.00[AMR][1000 genomes]
rs10045756	1.00[AMR][1000 genomes]
rs10052377	1.00[AMR][1000 genomes]
rs10056478	1.00[AMR][1000 genomes]
rs10057961	1.00[AMR][1000 genomes]
rs10065391	1.00[AMR][1000 genomes]
rs10066963	1.00[AMR][1000 genomes]
rs10068025	1.00[AMR][1000 genomes]
rs10068442	1.00[AMR][1000 genomes]
rs10069937	1.00[AMR][1000 genomes]
rs10070008	1.00[AMR][1000 genomes]
rs10070268	1.00[AMR][1000 genomes]
rs10071193	1.00[AMR][1000 genomes]
rs10072138	1.00[AMR][1000 genomes]
rs10076153	1.00[AMR][1000 genomes]
rs10077891	1.00[AMR][1000 genomes]
rs10079807	1.00[AMR][1000 genomes]
rs10447230	1.00[AMR][1000 genomes]
rs10476893	1.00[AMR][1000 genomes]
rs10477375	1.00[AMR][1000 genomes]
rs10477377	1.00[AMR][1000 genomes]
rs11953609	1.00[AMR][1000 genomes]
rs12332247	1.00[AMR][1000 genomes]
rs13328218	1.00[AMR][1000 genomes]
rs13356990	1.00[AMR][1000 genomes]
rs28477447	1.00[AMR][1000 genomes]
rs28488637	1.00[AMR][1000 genomes]
rs28503435	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147797000-147832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:147808000-147832000	Weak transcription	Right Ventricle	heart
6	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:147815600-147832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:147817000-147829600	Weak transcription	Pancreas	Pancrea
9	chr5:147817000-147834200	Weak transcription	Gastric	stomach
10	chr5:147818200-147830600	Weak transcription	Aorta	Aorta
11	chr5:147819400-147831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:147821800-147830400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:147822000-147828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:147822400-147828600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:147822400-147833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:147822400-147834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:147822400-147839200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:147822800-147830800	Enhancers	Fetal Heart	heart
19	chr5:147823000-147828000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:147823000-147834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:147823200-147833600	Weak transcription	Brain Germinal Matrix	brain
22	chr5:147823400-147831000	Weak transcription	Primary T cells from cord blood	blood
23	chr5:147823400-147832200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:147823400-147834600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:147824200-147835000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:147824400-147827800	Weak transcription	NHDF-Ad	bronchial
27	chr5:147824400-147828400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:147824600-147828000	Weak transcription	Left Ventricle	heart
29	chr5:147826600-147834200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:147826800-147832600	Weak transcription	Right Atrium	heart
31	chr5:147826800-147833400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:147826800-147834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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