Variant report

Variant	rs34848208
Chromosome Location	chr4:129103262-129103263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10001048	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1001503	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10019554	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10019840	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11723915	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11727049	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13136665	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1545711	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1809796	0.86[ASN][1000 genomes]
rs1809797	0.85[ASN][1000 genomes]
rs1908450	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1908451	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2056470	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061572	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4493552	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62336165	0.80[AFR][1000 genomes]
rs6534672	0.89[ASN][1000 genomes]
rs6534673	0.89[ASN][1000 genomes]
rs6811718	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7667562	0.87[ASN][1000 genomes]
rs7667689	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129067000-129107600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:129077400-129112600	Weak transcription	Left Ventricle	heart
3	chr4:129077400-129122000	Weak transcription	Aorta	Aorta
4	chr4:129077600-129103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:129078000-129103400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:129078000-129107800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:129078000-129107800	Weak transcription	Fetal Stomach	stomach
9	chr4:129078000-129108000	Weak transcription	Gastric	stomach
10	chr4:129083600-129112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:129084800-129104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:129084800-129107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:129084800-129112400	Weak transcription	NHDF-Ad	bronchial
14	chr4:129085800-129105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:129089600-129103400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:129089800-129104000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:129090000-129104400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:129091600-129104000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:129092600-129107800	Weak transcription	Pancreas	Pancrea
20	chr4:129092600-129122000	Weak transcription	Esophagus	oesophagus
21	chr4:129093800-129107800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:129094400-129107200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:129094600-129107800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:129094600-129122200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:129094600-129131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:129094800-129107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:129095000-129108400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:129095000-129112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:129095800-129104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:129096200-129107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:129096400-129104000	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:129096600-129107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:129096600-129112600	Weak transcription	GM12878-XiMat	blood
34	chr4:129096600-129121200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:129096800-129108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:129097000-129105800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:129097200-129104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:129097400-129104000	Weak transcription	HSMMtube	muscle
39	chr4:129097400-129112400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:129097600-129112600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:129097800-129104000	Weak transcription	Psoas Muscle	Psoas
42	chr4:129098000-129106800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:129098200-129119600	Weak transcription	Fetal Lung	lung
44	chr4:129098400-129124000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:129098600-129107800	Weak transcription	Lung	lung
47	chr4:129098600-129112400	Weak transcription	HSMM	muscle
48	chr4:129098800-129122400	Weak transcription	HUVEC	blood vessel
49	chr4:129099000-129104000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:129099000-129112400	Weak transcription	K562	blood

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