Variant report

Variant	rs256930
Chromosome Location	chr5:16699512-16699513
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16699313..16701301-chr5:16704583..16706193,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11738070	0.83[EUR][1000 genomes]
rs11740825	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs11741866	0.80[EUR][1000 genomes]
rs154287	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1560087	0.82[CEU][hapmap]
rs1560088	0.84[EUR][1000 genomes]
rs1863996	0.84[MEX][hapmap]
rs2288433	0.84[MEX][hapmap]
rs256929	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256932	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs256935	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs257047	0.90[EUR][1000 genomes]
rs257049	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257050	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs257051	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257198	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs31579	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4701670	0.82[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.89[MEX][hapmap];0.80[EUR][1000 genomes]
rs4702166	0.80[EUR][1000 genomes]
rs59574363	0.80[EUR][1000 genomes]
rs6881621	0.81[CEU][hapmap]
rs7733988	0.84[MEX][hapmap]
rs890911	0.86[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap];0.84[EUR][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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv4737	chr5:16681166-16707357	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs256930	GSTT1	trans	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
6	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
11	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
12	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
13	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:16679600-16701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:16681400-16701000	Weak transcription	Colonic Mucosa	Colon
16	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
17	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:16683200-16701000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:16683800-16707200	Weak transcription	Liver	Liver
20	chr5:16684200-16700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:16684600-16701200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
25	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:16690400-16707400	Weak transcription	Hela-S3	cervix
28	chr5:16692000-16702000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:16694800-16699600	Weak transcription	Esophagus	oesophagus
30	chr5:16694800-16701000	Weak transcription	Adipose Nuclei	Adipose
31	chr5:16695000-16700200	Weak transcription	Placenta	Placenta
32	chr5:16695000-16700600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:16695000-16710600	Weak transcription	Stomach Mucosa	stomach
34	chr5:16695200-16703000	Weak transcription	Fetal Brain Male	brain
35	chr5:16696400-16703000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:16696600-16703000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:16696600-16705000	Strong transcription	Fetal Stomach	stomach
38	chr5:16697000-16702600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:16697200-16701400	Strong transcription	Fetal Intestine Small	intestine
40	chr5:16697200-16702200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr5:16697200-16705200	Strong transcription	NHEK	skin
42	chr5:16697200-16711600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:16697400-16701000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:16697400-16705600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:16697400-16711200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr5:16697400-16711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:16697800-16702400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:16697800-16702800	Strong transcription	Fetal Brain Female	brain
49	chr5:16697800-16705000	Strong transcription	Fetal Muscle Leg	muscle
50	chr5:16697800-16711400	Strong transcription	HMEC	breast

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