Variant report

Variant	rs16903375
Chromosome Location	chr5:14302488-14302489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14035194..14037958-chr5:14300932..14303719,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11133785	0.83[EUR][1000 genomes]
rs11949756	0.82[CEU][hapmap]
rs11950000	0.82[CEU][hapmap]
rs12109756	0.82[CEU][hapmap]
rs12110161	0.82[CEU][hapmap]
rs16903389	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903421	0.82[CEU][hapmap];0.84[GIH][hapmap]
rs16903453	0.82[CEU][hapmap]
rs16903460	0.82[CEU][hapmap]
rs16903464	0.82[CEU][hapmap]
rs1697168	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697170	0.97[EUR][1000 genomes]
rs2463803	1.00[CEU][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs30617	1.00[JPT][hapmap]
rs58383010	0.95[EUR][1000 genomes]
rs60768136	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62344973	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344976	0.83[EUR][1000 genomes]
rs62346588	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62346590	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6879505	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6887831	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696290	0.83[EUR][1000 genomes]
rs697558	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs697559	1.00[CEU][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7710935	0.83[EUR][1000 genomes]
rs7731443	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7732548	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs773764	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs773765	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs773766	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

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
rs16903375	ZNF185	trans	lymphoblastoid	seeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
3	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr5:14289400-14302800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:14290000-14302800	Strong transcription	Fetal Intestine Large	intestine
13	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
14	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
15	chr5:14291600-14308400	Weak transcription	Fetal Kidney	kidney
16	chr5:14293600-14303600	Strong transcription	HSMM	muscle
17	chr5:14293800-14303000	Strong transcription	HSMMtube	muscle
18	chr5:14293800-14304600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:14294600-14308200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:14296800-14303000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:14297400-14304600	Weak transcription	Fetal Heart	heart
23	chr5:14297800-14306200	Weak transcription	Brain Angular Gyrus	brain
24	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
25	chr5:14298000-14304400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:14298000-14308600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:14298200-14305200	Weak transcription	Colonic Mucosa	Colon
30	chr5:14298200-14306600	Weak transcription	Esophagus	oesophagus
31	chr5:14298200-14307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:14298200-14308800	Weak transcription	Gastric	stomach
33	chr5:14298400-14302600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:14298400-14303800	Weak transcription	Fetal Brain Female	brain
35	chr5:14298400-14309400	Weak transcription	Fetal Brain Male	brain
36	chr5:14298800-14304000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:14299000-14304000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr5:14299000-14305000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
40	chr5:14299200-14302600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:14299200-14302800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:14299200-14302800	Strong transcription	NHEK	skin
43	chr5:14299200-14303000	Strong transcription	HMEC	breast
44	chr5:14299200-14303000	Strong transcription	Osteobl	bone
45	chr5:14299200-14303200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:14299200-14303400	Strong transcription	NH-A	brain
47	chr5:14299200-14303600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:14299200-14303800	Strong transcription	NHLF	lung
49	chr5:14299200-14304000	Strong transcription	NHDF-Ad	bronchial
50	chr5:14299200-14304800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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