Variant report

Variant	rs2025315
Chromosome Location	chr13:49715043-49715044
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	chr13:49709889..49712685-chr13:49713112..49715905,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1407828	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs1977260	1.00[AFR][1000 genomes]
rs3012131	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs3012137	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7992530	1.00[YRI][hapmap]
rs928039	1.00[AFR][1000 genomes]
rs9568165	1.00[MKK][hapmap];1.00[YRI][hapmap]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
2	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
3	chr13:49693600-49737200	Weak transcription	Spleen	Spleen
4	chr13:49704400-49720000	Strong transcription	Dnd41	blood
5	chr13:49705000-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:49705200-49715600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:49705200-49715600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr13:49705200-49716000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:49705200-49717000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:49705200-49717000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr13:49705200-49717200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:49705200-49718200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr13:49705200-49718200	Strong transcription	Fetal Thymus	thymus
14	chr13:49705200-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:49705200-49720600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:49705200-49720600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:49705200-49720600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:49705200-49721000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:49705200-49722400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:49705200-49723200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:49705400-49718000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr13:49705400-49726600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:49705800-49737200	Weak transcription	Right Ventricle	heart
24	chr13:49706000-49717400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:49706000-49737400	Weak transcription	Gastric	stomach
26	chr13:49706000-49748200	Weak transcription	K562	blood
27	chr13:49706200-49720800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:49706400-49721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:49706600-49737000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr13:49706800-49737400	Weak transcription	Small Intestine	intestine
31	chr13:49707200-49721800	Weak transcription	Psoas Muscle	Psoas
32	chr13:49707400-49720800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr13:49707400-49724200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:49707800-49721000	Weak transcription	Brain Angular Gyrus	brain
35	chr13:49707800-49723400	Weak transcription	Fetal Brain Male	brain
36	chr13:49707800-49737200	Weak transcription	Lung	lung
37	chr13:49708000-49719800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:49708000-49720000	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:49708000-49720600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr13:49708000-49721000	Weak transcription	A549	lung
41	chr13:49708000-49725800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:49708800-49719000	Weak transcription	NHEK	skin
43	chr13:49709400-49716600	Strong transcription	HepG2	liver
44	chr13:49709400-49718200	Strong transcription	Fetal Intestine Large	intestine
45	chr13:49709600-49737200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:49709800-49721400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:49709800-49721800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:49710200-49715600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr13:49710400-49715400	Strong transcription	Adipose Nuclei	Adipose
50	chr13:49710400-49716000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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