Variant report

Variant	rs17074602
Chromosome Location	chr3:42596298-42596299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42585374..42587081-chr3:42594734..42596739,2	K562	blood:
2	chr3:42595447..42597634-chr3:42622198..42624587,2	K562	blood:

Variant related genes	Relation type
ENSG00000008324	Chromatin interaction
ENSG00000093183	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1062051	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13089845	0.83[ASN][1000 genomes]
rs13090902	0.83[ASN][1000 genomes]
rs13093680	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs13095447	0.80[ASN][1000 genomes]
rs17074662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17074664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17074669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17074674	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs17074680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2241542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271182	0.82[ASN][1000 genomes]
rs2284303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2300057	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2302352	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs339713	1.00[CEU][hapmap];0.86[GIH][hapmap]
rs33984028	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs34801786	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs34852409	0.81[ASN][1000 genomes]
rs35676838	0.83[ASN][1000 genomes]
rs35770315	0.88[EUR][1000 genomes]
rs3774401	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3774402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3774407	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3821836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3846059	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3846061	1.00[CEU][hapmap]
rs3886782	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3901239	1.00[CEU][hapmap];0.86[GIH][hapmap]
rs6441928	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs66786953	0.81[ASN][1000 genomes]
rs6772312	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6788548	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6792277	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7617403	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7617736	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7624628	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs890688	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42577800-42597600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:42587000-42602400	Weak transcription	Colonic Mucosa	Colon
3	chr3:42587400-42597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:42587400-42597200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:42587400-42606800	Weak transcription	Small Intestine	intestine
6	chr3:42587800-42597000	Strong transcription	Fetal Thymus	thymus
7	chr3:42587800-42597000	Strong transcription	Thymus	Thymus
8	chr3:42587800-42611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:42588000-42613000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:42588400-42613000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:42588600-42618000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:42589000-42611800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:42589200-42611000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:42589400-42596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:42589400-42610800	Weak transcription	Stomach Mucosa	stomach
16	chr3:42589400-42611000	Strong transcription	Fetal Stomach	stomach
17	chr3:42589400-42612400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:42589400-42614000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:42589600-42611200	Strong transcription	Fetal Intestine Small	intestine
20	chr3:42589600-42611800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr3:42589800-42597000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:42589800-42597000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:42589800-42597200	Weak transcription	Hela-S3	cervix
24	chr3:42589800-42610600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:42589800-42611000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:42589800-42616400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:42590000-42597000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:42590000-42597800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:42590000-42598600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:42590000-42603800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:42590000-42611600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:42590000-42612600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr3:42590200-42601600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:42590200-42611600	Strong transcription	Fetal Muscle Leg	muscle
35	chr3:42590200-42611800	Strong transcription	Adipose Nuclei	Adipose
36	chr3:42590400-42597000	Strong transcription	Dnd41	blood
37	chr3:42590600-42597600	Strong transcription	GM12878-XiMat	blood
38	chr3:42590800-42599800	Strong transcription	HUVEC	blood vessel
39	chr3:42591000-42605400	Strong transcription	Left Ventricle	heart
40	chr3:42591000-42609200	Strong transcription	Fetal Intestine Large	intestine
41	chr3:42591000-42614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:42591200-42596800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:42591200-42597600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:42591200-42610400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:42591200-42611800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:42591400-42611200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:42591600-42609400	Strong transcription	Primary B cells from cord blood	blood
48	chr3:42591600-42611800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:42591800-42609400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:42591800-42609400	Strong transcription	Fetal Lung	lung

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