Variant report

Variant	rs3804174
Chromosome Location	chr4:121719932-121719933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10026047	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10033707	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857072	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs11098589	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11728387	0.80[CEU][hapmap]
rs12507922	0.80[CEU][hapmap]
rs12508015	0.80[CEU][hapmap]
rs12508048	0.80[CEU][hapmap]
rs12508821	0.80[CEU][hapmap]
rs12509870	0.80[CEU][hapmap]
rs12509912	0.80[CEU][hapmap]
rs12509939	0.80[CEU][hapmap]
rs1349347	0.93[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1376099	0.93[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1397770	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1450462	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1511303	0.80[CEU][hapmap]
rs1511307	0.80[CEU][hapmap]
rs1511309	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1588523	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs17051263	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1868715	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1877214	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1877215	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1912720	0.93[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1987468	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100237	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136997	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2221814	0.80[CEU][hapmap]
rs2221815	0.80[CEU][hapmap]
rs237212	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2597536	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2597537	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2597538	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2597540	0.93[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2667172	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667173	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28831670	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28850273	0.84[EUR][1000 genomes]
rs343181	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs343184	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs343187	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs343190	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs343192	0.93[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3789141	0.93[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3789142	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804167	0.80[CEU][hapmap]
rs3804171	0.80[CEU][hapmap]
rs4336252	0.80[CEU][hapmap]
rs4833178	0.80[CEU][hapmap]
rs4833180	0.80[CEU][hapmap]
rs4833181	0.80[CEU][hapmap]
rs4833183	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833184	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833674	0.80[CEU][hapmap]
rs4833675	0.93[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4833676	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833677	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833679	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4833681	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4833686	0.80[CEU][hapmap]
rs57841364	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59085467	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59837089	0.82[EUR][1000 genomes]
rs6835471	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs729934	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv879856	chr4:121697932-121737767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
2	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
3	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
4	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
5	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:121679600-121721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:121690600-121728800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:121691200-121722200	Weak transcription	Ovary	ovary
11	chr4:121695800-121730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:121699200-121728200	Weak transcription	Fetal Lung	lung
13	chr4:121702800-121722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:121704400-121724600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:121705600-121721600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:121705600-121722000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:121706000-121720400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:121706400-121720200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:121706400-121728800	Weak transcription	Pancreas	Pancrea
20	chr4:121707200-121730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:121710200-121729600	Weak transcription	Esophagus	oesophagus
22	chr4:121712400-121722400	Weak transcription	NHDF-Ad	bronchial
23	chr4:121712400-121728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:121713000-121722200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:121713400-121721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:121714800-121728600	Weak transcription	Fetal Intestine Large	intestine
27	chr4:121715000-121722400	Weak transcription	Adipose Nuclei	Adipose
28	chr4:121715400-121728200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:121715400-121729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:121717400-121722400	Weak transcription	NH-A	brain
31	chr4:121717600-121722400	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:121717800-121721600	Weak transcription	Fetal Heart	heart
33	chr4:121717800-121722200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:121718400-121721000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:121718400-121722800	Weak transcription	NHLF	lung
36	chr4:121718600-121730800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:121719200-121722400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:121719600-121720000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:121719600-121720200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:121719600-121720600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:121719800-121720400	Enhancers	Rectal Smooth Muscle	rectum

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