Variant report

Variant	rs1511309
Chromosome Location	chr4:121720771-121720772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10026047	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10033707	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10518379	0.83[CEU][hapmap]
rs10857072	0.94[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs11098589	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11728387	0.83[CEU][hapmap]
rs11733915	0.81[CEU][hapmap]
rs11734461	0.82[CEU][hapmap]
rs11735169	0.83[CEU][hapmap]
rs12499000	0.83[CEU][hapmap]
rs12507922	0.83[CEU][hapmap]
rs12507970	0.82[CEU][hapmap]
rs12508015	0.83[CEU][hapmap]
rs12508048	0.83[CEU][hapmap]
rs12508821	0.83[CEU][hapmap]
rs12509870	0.88[CEU][hapmap]
rs12509912	0.83[CEU][hapmap]
rs12509939	0.83[CEU][hapmap]
rs12509993	0.87[CEU][hapmap]
rs1349347	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1376099	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1397770	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1450462	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1511303	0.83[CEU][hapmap]
rs1511307	0.83[CEU][hapmap]
rs1588523	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs17051263	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1868715	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1877214	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1877215	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1912720	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1949110	0.82[CEU][hapmap]
rs1949111	0.83[CEU][hapmap]
rs1987468	0.93[ASN][1000 genomes]
rs2100237	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2136997	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2203060	0.83[CEU][hapmap]
rs2221814	0.83[CEU][hapmap]
rs2221815	0.83[CEU][hapmap]
rs237212	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597536	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2597537	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2597538	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2597540	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2667172	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2667173	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28831670	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs343181	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343184	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs343187	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs343190	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs343192	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3761721	0.83[CEU][hapmap]
rs3789141	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3789142	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3804167	0.83[CEU][hapmap]
rs3804171	0.83[CEU][hapmap]
rs3804174	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4336252	0.83[CEU][hapmap]
rs4833178	0.83[CEU][hapmap]
rs4833179	0.83[CEU][hapmap]
rs4833180	0.83[CEU][hapmap]
rs4833181	0.83[CEU][hapmap]
rs4833183	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833184	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833674	0.83[CEU][hapmap]
rs4833675	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4833676	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4833677	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4833679	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4833680	0.83[CEU][hapmap]
rs4833681	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4833686	0.83[CEU][hapmap]
rs57841364	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59085467	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6835471	0.93[ASN][1000 genomes]
rs729934	0.83[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:40 , 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	chr4:121706400-121728800	Weak transcription	Pancreas	Pancrea
18	chr4:121707200-121730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:121710200-121729600	Weak transcription	Esophagus	oesophagus
20	chr4:121712400-121722400	Weak transcription	NHDF-Ad	bronchial
21	chr4:121712400-121728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:121713000-121722200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:121713400-121721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:121714800-121728600	Weak transcription	Fetal Intestine Large	intestine
25	chr4:121715000-121722400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:121715400-121728200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:121715400-121729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:121717400-121722400	Weak transcription	NH-A	brain
29	chr4:121717600-121722400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:121717800-121721600	Weak transcription	Fetal Heart	heart
31	chr4:121717800-121722200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:121718400-121721000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:121718400-121722800	Weak transcription	NHLF	lung
34	chr4:121718600-121730800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:121719200-121722400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:121720000-121728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:121720200-121722200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:121720400-121720800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:121720400-121721400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:121720600-121731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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