Variant report

Variant	rs2015269
Chromosome Location	chr5:14294181-14294182
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	chr5:14287111..14289628-chr5:14293416..14296337,2	MCF-7	breast:
2	chr5:14294031..14295826-chr5:14296688..14299284,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16903350	0.83[AMR][1000 genomes]
rs16903376	0.87[AFR][1000 genomes]
rs57764801	0.85[AFR][1000 genomes]
rs58716074	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59499572	0.83[AMR][1000 genomes]
rs61509800	0.83[AMR][1000 genomes]
rs6868596	0.83[AMR][1000 genomes]
rs73751311	0.83[AMR][1000 genomes]
rs73751318	0.83[AMR][1000 genomes]
rs73751327	0.83[AMR][1000 genomes]
rs73751335	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751336	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751338	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751339	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751340	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7703674	0.83[AMR][1000 genomes]
rs7705426	0.83[AMR][1000 genomes]
rs7713114	0.87[AFR][1000 genomes];0.83[AMR][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	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
3	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:14278600-14296200	Strong transcription	NH-A	brain
6	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:14284200-14296200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:14285000-14295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:14286400-14302000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:14286600-14302200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:14286800-14295600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr5:14286800-14301800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:14286800-14301800	Strong transcription	Liver	Liver
22	chr5:14287000-14297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:14287000-14302000	Strong transcription	Fetal Stomach	stomach
24	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:14287400-14296200	Strong transcription	Osteobl	bone
26	chr5:14287800-14298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:14287800-14298600	Weak transcription	Primary T cells from cord blood	blood
28	chr5:14288000-14295400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:14288600-14295200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:14288600-14301600	Strong transcription	GM12878-XiMat	blood
32	chr5:14288800-14300600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:14289400-14302800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:14289800-14295200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:14290000-14296600	Strong transcription	NHDF-Ad	bronchial
36	chr5:14290000-14302800	Strong transcription	Fetal Intestine Large	intestine
37	chr5:14290200-14297600	Strong transcription	A549	lung
38	chr5:14290400-14296000	Strong transcription	HMEC	breast
39	chr5:14290400-14296400	Strong transcription	HUVEC	blood vessel
40	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
41	chr5:14291000-14294200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr5:14291400-14297200	Weak transcription	Esophagus	oesophagus
43	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
44	chr5:14291600-14297000	Weak transcription	Fetal Thymus	thymus
45	chr5:14291600-14297200	Weak transcription	Colonic Mucosa	Colon
46	chr5:14291600-14297800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:14291600-14308400	Weak transcription	Fetal Kidney	kidney
48	chr5:14292000-14294200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:14292400-14302000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:14292600-14294400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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