Variant report

Variant	rs4330729
Chromosome Location	chr8:121602466-121602467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10955976	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242315	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4480161	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870734	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871075	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62526664	0.99[ASN][1000 genomes]
rs67339289	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981480	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987986	0.86[ASN][1000 genomes]
rs7009902	0.87[ASN][1000 genomes]
rs7015089	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815260	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7834651	0.85[EUR][1000 genomes];0.99[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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
3	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:121594200-121605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:121596800-121604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:121596800-121606200	Enhancers	NHLF	lung
11	chr8:121596800-121606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:121597000-121605000	Enhancers	HSMMtube	muscle
13	chr8:121597600-121602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:121598400-121604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:121598600-121603600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:121598600-121611000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:121598800-121605000	Weak transcription	Lung	lung
19	chr8:121599000-121604800	Weak transcription	Pancreas	Pancrea
20	chr8:121599000-121605400	Weak transcription	Left Ventricle	heart
21	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:121599600-121606200	Enhancers	NHDF-Ad	bronchial
23	chr8:121600000-121605000	Enhancers	HSMM	muscle
24	chr8:121600000-121605400	Weak transcription	Psoas Muscle	Psoas
25	chr8:121600200-121605000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:121600400-121602800	Enhancers	Fetal Kidney	kidney
27	chr8:121600600-121602800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:121600600-121604000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:121600600-121609200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:121600800-121605600	Strong transcription	HepG2	liver
31	chr8:121601000-121602800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:121601000-121602800	Enhancers	Liver	Liver
33	chr8:121601000-121603000	Enhancers	Osteobl	bone
34	chr8:121601200-121602800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:121601200-121604400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:121601200-121606400	Enhancers	Fetal Muscle Leg	muscle
37	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:121601400-121605000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:121601600-121602800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:121601600-121603000	Enhancers	Fetal Lung	lung
41	chr8:121601800-121602600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:121601800-121602600	Enhancers	Hela-S3	cervix
43	chr8:121601800-121602800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:121601800-121602800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:121601800-121602800	Enhancers	NH-A	brain
46	chr8:121601800-121603000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:121601800-121603000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:121601800-121603200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:121601800-121603400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:121601800-121604000	Enhancers	HUES48 Cell Line	embryonic stem cell

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