Variant report

Variant	rs17084702
Chromosome Location	chr4:55596008-55596009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1124007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11935331	0.90[CEU][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17084694	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17084716	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17084733	1.00[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237014	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276949	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298976	0.89[ASW][hapmap];0.90[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3733542	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3796776	0.92[ASN][1000 genomes]
rs3822214	1.00[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73234238	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8022	1.00[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv966517	chr4:55593589-55598141	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:55576400-55602000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:55576400-55602600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:55584400-55606200	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:55585200-55608400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:55586600-55604600	Weak transcription	Lung	lung
8	chr4:55587800-55607600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:55588200-55608000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:55588600-55611600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:55589600-55608400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:55589800-55607400	Weak transcription	Left Ventricle	heart
13	chr4:55590000-55603400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:55590000-55608000	Strong transcription	Primary hematopoietic stem cells	blood
15	chr4:55590600-55602200	Weak transcription	Fetal Brain Female	brain
16	chr4:55591200-55597600	Weak transcription	Fetal Kidney	kidney
17	chr4:55591800-55599200	Weak transcription	Adipose Nuclei	Adipose
18	chr4:55592600-55609000	Weak transcription	Fetal Stomach	stomach
19	chr4:55593400-55596200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:55593400-55598200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:55593400-55607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:55593600-55602600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:55593600-55606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:55593800-55598200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:55593800-55600400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:55594000-55597200	Weak transcription	NHLF	lung
27	chr4:55594200-55597000	Weak transcription	Ovary	ovary
28	chr4:55594200-55602200	Weak transcription	Aorta	Aorta
29	chr4:55594400-55596400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:55594400-55597400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:55594400-55602600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:55594400-55607000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:55594600-55599800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:55595000-55596200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:55595000-55597400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:55595200-55597400	Weak transcription	Fetal Lung	lung
37	chr4:55595600-55597000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:55595800-55597400	Weak transcription	HUVEC	blood vessel
39	chr4:55596000-55596600	Enhancers	Fetal Brain Male	brain
40	chr4:55596000-55598200	Strong transcription	NHDF-Ad	bronchial

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