Variant report

Variant	rs17304403
Chromosome Location	chr5:14362334-14362335
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14360819..14363309-chr5:14376690..14379574,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11955578	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs11957060	0.90[CEU][hapmap]
rs11957857	0.81[EUR][1000 genomes]
rs13172149	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172877	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13188746	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13189406	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs154151	0.92[EUR][1000 genomes]
rs17302408	0.87[LWK][hapmap]
rs185355	0.92[EUR][1000 genomes]
rs187667	0.89[EUR][1000 genomes]
rs247137	0.92[EUR][1000 genomes]
rs256412	0.89[EUR][1000 genomes]
rs28343	0.89[EUR][1000 genomes]
rs30766	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs30767	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs30768	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs30772	0.91[EUR][1000 genomes]
rs30773	0.95[CEU][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs30785	0.92[EUR][1000 genomes]
rs30786	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs30787	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs30788	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs30789	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs30790	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs30791	0.95[CEU][hapmap];0.80[GIH][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs30793	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs30799	0.90[EUR][1000 genomes]
rs30800	0.89[EUR][1000 genomes]
rs30801	0.89[EUR][1000 genomes]
rs35860741	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36077682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378369	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs382403	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs389729	0.90[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap]
rs397319	0.95[CEU][hapmap]
rs40278	0.89[EUR][1000 genomes]
rs40572	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs42555	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs42556	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs434279	0.92[EUR][1000 genomes]
rs4702029	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[GIH][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs71614085	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs730184	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs744048	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs923616	0.84[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17304403	FAM105B	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14342800-14365200	Weak transcription	Small Intestine	intestine
2	chr5:14343800-14362400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:14350400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:14353600-14366200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14354400-14374800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:14354600-14402400	Strong transcription	Liver	Liver
10	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
11	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr5:14355400-14365200	Strong transcription	HSMM	muscle
13	chr5:14355600-14375000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:14356000-14362400	Strong transcription	Osteobl	bone
15	chr5:14356000-14366200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr5:14356400-14365400	Strong transcription	NHEK	skin
17	chr5:14356400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:14356600-14363800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:14356600-14365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:14356800-14370200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:14356800-14376000	Strong transcription	HepG2	liver
22	chr5:14357000-14370400	Strong transcription	Fetal Intestine Small	intestine
23	chr5:14357000-14371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:14357000-14374000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:14357000-14376400	Strong transcription	NHLF	lung
26	chr5:14357000-14376600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:14357600-14362400	Strong transcription	Gastric	stomach
28	chr5:14357600-14363000	Strong transcription	A549	lung
29	chr5:14357600-14365200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
31	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:14358000-14373800	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr5:14358000-14377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
37	chr5:14358200-14362400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:14358200-14362800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:14358200-14366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:14358200-14366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:14358200-14375800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr5:14358200-14391600	Strong transcription	Primary B cells from cord blood	blood
43	chr5:14358400-14362400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:14358400-14364800	Strong transcription	GM12878-XiMat	blood
45	chr5:14358400-14365000	Strong transcription	NH-A	brain
46	chr5:14358400-14366400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:14358400-14371200	Strong transcription	Fetal Brain Female	brain
48	chr5:14358400-14374200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:14358400-14374600	Strong transcription	Fetal Stomach	stomach
50	chr5:14358400-14385600	Strong transcription	Fetal Intestine Large	intestine

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