Variant report

Variant	rs13387757
Chromosome Location	chr2:11466993-11466994
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	chr2:11465940..11468205-chr2:11479384..11482432,3	MCF-7	breast:
2	chr2:11465949..11467499-chr2:11475511..11477428,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12329273	0.84[AFR][1000 genomes]
rs12329341	0.84[AFR][1000 genomes]
rs13416047	0.92[AFR][1000 genomes]
rs1375853	0.92[AFR][1000 genomes]
rs28441302	0.92[AFR][1000 genomes]
rs4267491	0.92[AFR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11451600-11467000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:11454400-11469800	Weak transcription	Fetal Brain Male	brain
3	chr2:11455000-11469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:11456000-11469400	Weak transcription	HSMM	muscle
5	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:11457400-11469800	Weak transcription	Hela-S3	cervix
7	chr2:11459800-11469400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:11460600-11469400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:11460800-11469800	Weak transcription	Fetal Lung	lung
10	chr2:11461000-11467200	Weak transcription	Right Ventricle	heart
11	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:11461200-11469400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:11462400-11467600	Weak transcription	Left Ventricle	heart
14	chr2:11464200-11467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:11464400-11467200	Weak transcription	Ovary	ovary
16	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
17	chr2:11465200-11467800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:11465400-11467200	Enhancers	Right Atrium	heart
19	chr2:11465400-11467800	Enhancers	Brain Anterior Caudate	brain
20	chr2:11465600-11467600	Enhancers	Brain Substantia Nigra	brain
21	chr2:11465800-11467400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:11466000-11467200	Enhancers	Small Intestine	intestine
23	chr2:11466000-11467400	Enhancers	K562	blood
24	chr2:11466000-11467800	Enhancers	Adipose Nuclei	Adipose
25	chr2:11466000-11467800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:11466000-11468600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:11466200-11467000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:11466200-11467000	Flanking Active TSS	NHDF-Ad	bronchial
29	chr2:11466200-11467200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:11466200-11469400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:11466400-11467000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr2:11466400-11467000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:11466400-11467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:11466400-11467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:11466400-11467800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:11466400-11468000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:11466600-11467000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr2:11466600-11467000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr2:11466600-11467000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:11466600-11467000	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:11466600-11467000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:11466600-11467000	Flanking Active TSS	GM12878-XiMat	blood
43	chr2:11466600-11467000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr2:11466600-11467200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:11466600-11467200	Enhancers	Brain Germinal Matrix	brain
46	chr2:11466600-11467400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr2:11466600-11467400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:11466600-11467400	Flanking Active TSS	HUVEC	blood vessel
49	chr2:11466600-11467600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:11466600-11467800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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