Variant report

Variant	rs35388412
Chromosome Location	chr4:129999362-129999363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10518543	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12648004	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12651152	0.84[EUR][1000 genomes]
rs13106626	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13111663	0.81[EUR][1000 genomes]
rs13124870	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13126896	0.92[EUR][1000 genomes]
rs13127992	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133315	1.00[AFR][1000 genomes]
rs13136209	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13138537	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13139306	0.93[ASN][1000 genomes]
rs17014149	0.93[ASN][1000 genomes]
rs17014190	0.82[ASN][1000 genomes]
rs17184802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28643269	0.82[ASN][1000 genomes]
rs33999735	0.96[ASN][1000 genomes]
rs34044129	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34302928	0.93[ASN][1000 genomes]
rs34483420	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35002630	0.92[EUR][1000 genomes]
rs35053690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35128288	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35149191	0.96[ASN][1000 genomes]
rs35199409	0.93[ASN][1000 genomes]
rs35259423	0.85[AMR][1000 genomes]
rs35349408	0.96[EUR][1000 genomes]
rs35412182	0.89[ASN][1000 genomes]
rs36000518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36101862	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36124477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36128858	0.96[ASN][1000 genomes]
rs71612197	0.92[EUR][1000 genomes]
rs71612199	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71613905	0.96[ASN][1000 genomes]
rs71613907	0.96[ASN][1000 genomes]
rs71613908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613914	0.84[EUR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129977200-130000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:129983000-130001600	Weak transcription	Fetal Heart	heart
3	chr4:129985000-130000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:129985000-130000000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:129985000-130000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:129985000-130000200	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:129985200-130000000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:129985200-130000000	Weak transcription	Fetal Stomach	stomach
9	chr4:129985200-130000200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:129985200-130000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:129985200-130000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:129985200-130000600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:129985200-130000600	Weak transcription	Placenta	Placenta
14	chr4:129985200-130000600	Weak transcription	Gastric	stomach
15	chr4:129985200-130000600	Weak transcription	Lung	lung
16	chr4:129985200-130000600	Weak transcription	Ovary	ovary
17	chr4:129985200-130000600	Weak transcription	Spleen	Spleen
18	chr4:129985200-130001000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:129985200-130001200	Weak transcription	Small Intestine	intestine
20	chr4:129985200-130002200	Weak transcription	Pancreas	Pancrea
21	chr4:129985200-130012200	Weak transcription	HSMM	muscle
22	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:129986600-130000800	Weak transcription	Osteobl	bone
25	chr4:129986600-130001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:129987000-130011600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:129987400-130000600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:129987600-130000600	Weak transcription	NHLF	lung
29	chr4:129990400-130004000	Weak transcription	Right Ventricle	heart
30	chr4:129991600-130011800	Weak transcription	Hela-S3	cervix
31	chr4:129991800-130012000	Weak transcription	HUVEC	blood vessel
32	chr4:129992000-130000200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:129992200-130000600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:129992200-130003600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:129992200-130005400	Weak transcription	Psoas Muscle	Psoas
36	chr4:129992400-130001200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:129992600-130000800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:129992600-130005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:129992600-130012000	Weak transcription	HepG2	liver
40	chr4:129992800-130001000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:129993000-130007600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:129993000-130012000	Weak transcription	Stomach Mucosa	stomach
43	chr4:129994200-130000000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:129994400-130000000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:129994400-130000000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:129994400-130000000	Weak transcription	Liver	Liver
47	chr4:129994400-130000000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:129994400-130000600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:129994400-130000600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:129994400-130000600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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