Variant report

Variant	rs17001551
Chromosome Location	chr4:77082403-77082404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11097229	0.81[ASN][1000 genomes]
rs11937264	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11938195	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1348209	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1372410	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1372411	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465923	0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1542092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1542093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1542094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1542095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17001389	0.83[ASN][1000 genomes]
rs17001391	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17001392	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs17001393	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17001395	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17001396	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs17001398	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs17001534	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17001542	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17001559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17001593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17001598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17001601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17001606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17001633	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2165587	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28370991	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35442986	0.89[ASN][1000 genomes]
rs3733255	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733256	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282210	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4379080	0.83[ASN][1000 genomes]
rs4416503	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4639101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6826514	0.81[ASN][1000 genomes]
rs6856609	0.86[JPT][hapmap]
rs73825885	0.81[ASN][1000 genomes]
rs73826361	0.89[ASN][1000 genomes]
rs7436214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7436661	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7682766	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470047	chr4:77033590-77096777	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1008318	chr4:77042356-77095658	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537144	chr4:77042356-77095658	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1000539	chr4:77042356-77105492	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77070000-77082600	Weak transcription	Spleen	Spleen
2	chr4:77070200-77082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:77070200-77082600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:77070200-77082600	Weak transcription	Gastric	stomach
5	chr4:77070200-77082800	Weak transcription	Lung	lung
6	chr4:77070400-77082600	Weak transcription	Aorta	Aorta
7	chr4:77070400-77093400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:77070600-77083800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:77070600-77113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:77070800-77082600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:77070800-77082600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:77070800-77082600	Weak transcription	A549	lung
13	chr4:77070800-77083000	Weak transcription	Colonic Mucosa	Colon
14	chr4:77070800-77083800	Weak transcription	Fetal Kidney	kidney
15	chr4:77070800-77088400	Weak transcription	Stomach Mucosa	stomach
16	chr4:77070800-77093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:77071000-77082600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:77071000-77086800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:77071000-77087200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:77071200-77082600	Weak transcription	Right Ventricle	heart
21	chr4:77071200-77084200	Weak transcription	Fetal Thymus	thymus
22	chr4:77071200-77087800	Weak transcription	HepG2	liver
23	chr4:77071200-77113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:77071600-77088600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:77076400-77082600	Weak transcription	Fetal Intestine Small	intestine
26	chr4:77077400-77089000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:77077600-77082600	Weak transcription	Fetal Stomach	stomach
28	chr4:77077800-77082600	Weak transcription	Pancreas	Pancrea
29	chr4:77077800-77084200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:77077800-77089800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:77078000-77082600	Weak transcription	Psoas Muscle	Psoas
32	chr4:77078000-77089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:77078200-77082600	Weak transcription	HSMMtube	muscle
34	chr4:77078200-77100600	Weak transcription	K562	blood
35	chr4:77078400-77082600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:77078400-77084000	Weak transcription	Fetal Heart	heart
37	chr4:77078400-77087000	Weak transcription	NHEK	skin
38	chr4:77078600-77100800	Strong transcription	Placenta	Placenta
39	chr4:77079000-77082600	Weak transcription	Esophagus	oesophagus
40	chr4:77079200-77082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:77079200-77089400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:77079200-77098000	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:77079200-77100800	Strong transcription	Liver	Liver
44	chr4:77079400-77087000	Strong transcription	Brain Hippocampus Middle	brain
45	chr4:77079400-77087400	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr4:77079400-77097200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr4:77079400-77098800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:77079400-77100000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:77079400-77100800	Strong transcription	Fetal Intestine Large	intestine
50	chr4:77079400-77101400	Strong transcription	Fetal Muscle Trunk	muscle

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