Variant report

Variant	rs13034520
Chromosome Location	chr2:153263875-153263876
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	chr2:153263868..153266677-chr2:153276487..153278444,2	MCF-7	breast:
2	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12991203	1.00[ASN][1000 genomes]
rs13015675	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13034458	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34416306	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34974542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35588394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704894	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35873507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417221	0.82[AFR][1000 genomes]
rs71417222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417223	1.00[ASN][1000 genomes]
rs71417224	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
2	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:153257600-153266800	Enhancers	HepG2	liver
6	chr2:153257800-153264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
10	chr2:153260200-153264000	Weak transcription	Placenta	Placenta
11	chr2:153260200-153264600	Enhancers	Hela-S3	cervix
12	chr2:153260400-153264000	Weak transcription	Fetal Thymus	thymus
13	chr2:153261000-153264600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:153261400-153264200	Enhancers	HMEC	breast
15	chr2:153261400-153264600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:153261400-153264600	Enhancers	Stomach Mucosa	stomach
17	chr2:153261400-153264600	Flanking Active TSS	A549	lung
18	chr2:153261400-153265000	Enhancers	Brain Angular Gyrus	brain
19	chr2:153261400-153265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:153261600-153264600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:153261800-153264400	Enhancers	Fetal Kidney	kidney
22	chr2:153261800-153266400	Weak transcription	Liver	Liver
23	chr2:153261800-153268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:153262200-153264200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:153262200-153264200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:153262400-153264000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:153262400-153264400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:153262400-153266600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:153262600-153264800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:153262800-153264600	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:153262800-153265000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:153262800-153265200	Enhancers	Fetal Lung	lung
33	chr2:153262800-153266400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:153263000-153264000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:153263000-153268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:153263200-153264400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:153263400-153264000	Active TSS	Colon Smooth Muscle	Colon
38	chr2:153263400-153264000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:153263400-153264000	Enhancers	Fetal Stomach	stomach
40	chr2:153263400-153264000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:153263400-153264000	Flanking Active TSS	NH-A	brain
42	chr2:153263400-153264000	Active TSS	NHDF-Ad	bronchial
43	chr2:153263400-153264200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:153263400-153264200	Flanking Active TSS	NHEK	skin
45	chr2:153263400-153264200	Flanking Active TSS	Osteobl	bone
46	chr2:153263400-153264400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:153263400-153264400	Enhancers	HSMMtube	muscle
48	chr2:153263400-153264600	Enhancers	Small Intestine	intestine
49	chr2:153263400-153264800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:153263600-153264000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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