Variant report

Variant	rs30626
Chromosome Location	chr5:14288497-14288498
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	chr5:14287111..14289628-chr5:14293416..14296337,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs154150	0.83[ASN][1000 genomes]
rs164860	0.90[ASN][1000 genomes]
rs164862	0.87[ASN][1000 genomes]
rs164863	0.92[ASN][1000 genomes]
rs165092	0.92[ASN][1000 genomes]
rs165094	0.86[ASN][1000 genomes]
rs165095	0.89[ASN][1000 genomes]
rs165096	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2440982	0.91[ASN][1000 genomes]
rs30618	0.84[ASN][1000 genomes]
rs30621	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30625	0.84[ASN][1000 genomes]
rs30627	0.95[ASN][1000 genomes]
rs30628	0.93[ASN][1000 genomes]
rs30629	0.97[ASN][1000 genomes]
rs30630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30631	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs30632	0.83[ASN][1000 genomes]
rs30633	0.84[ASN][1000 genomes]
rs354303	0.84[ASN][1000 genomes]
rs356026	0.94[ASN][1000 genomes]
rs356027	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs356028	0.96[ASN][1000 genomes]
rs356029	0.96[ASN][1000 genomes]
rs42253	0.97[ASN][1000 genomes]
rs56334634	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58221971	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6554849	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6554850	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554851	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7380307	0.85[ASN][1000 genomes]
rs7700787	0.81[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	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
3	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:14270400-14289400	Weak transcription	Gastric	stomach
6	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
9	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:14276800-14290800	Weak transcription	Esophagus	oesophagus
12	chr5:14277200-14291000	Weak transcription	Brain Anterior Caudate	brain
13	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:14278600-14296200	Strong transcription	NH-A	brain
15	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:14279800-14293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:14281400-14291000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:14282200-14290000	Weak transcription	Fetal Thymus	thymus
21	chr5:14282400-14293400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:14284200-14296200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:14284800-14290400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:14284800-14290400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:14284800-14290800	Weak transcription	Aorta	Aorta
27	chr5:14284800-14291000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:14285000-14292800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:14285000-14295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:14285200-14290200	Weak transcription	Fetal Brain Female	brain
31	chr5:14285200-14290800	Weak transcription	Ovary	ovary
32	chr5:14285200-14291200	Weak transcription	Thymus	Thymus
33	chr5:14285200-14293000	Weak transcription	Fetal Lung	lung
34	chr5:14285400-14291000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:14285400-14293000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:14285600-14292800	Strong transcription	NHLF	lung
37	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:14286000-14289000	Strong transcription	Hela-S3	cervix
39	chr5:14286000-14294000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:14286200-14290800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:14286200-14291800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:14286200-14292600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:14286400-14288600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:14286400-14290000	Strong transcription	HUVEC	blood vessel
47	chr5:14286400-14292000	Strong transcription	Fetal Intestine Small	intestine
48	chr5:14286400-14302000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:14286600-14290800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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