Variant report

Variant	rs13393677
Chromosome Location	chr2:72692668-72692669
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72691074..72693045-chr2:72701878..72703474,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10181491	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10188321	0.80[AFR][1000 genomes]
rs10191381	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393356	0.80[AFR][1000 genomes]
rs13415635	0.84[AFR][1000 genomes]
rs6729155	0.80[AFR][1000 genomes]
rs9653555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72672000-72702200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:72680800-72702000	Weak transcription	Fetal Stomach	stomach
3	chr2:72685600-72702000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:72689000-72692800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:72689000-72694400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:72689400-72693000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr2:72689800-72702200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:72690000-72702200	Weak transcription	Pancreas	Pancrea
9	chr2:72690400-72702200	Weak transcription	Fetal Kidney	kidney
10	chr2:72690600-72693000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:72690800-72695800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:72691200-72693200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr2:72691200-72694200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:72691200-72697600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:72691200-72702000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:72691200-72702000	Weak transcription	Right Ventricle	heart
17	chr2:72691400-72693200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:72691400-72693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:72691400-72694400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:72691400-72702400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:72691400-72712600	Weak transcription	Osteobl	bone
22	chr2:72691400-72724200	Weak transcription	Psoas Muscle	Psoas
23	chr2:72691400-72726400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:72691600-72692800	Strong transcription	Adipose Nuclei	Adipose
25	chr2:72691600-72693000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:72691600-72693200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:72691600-72693400	Weak transcription	HSMM	muscle
28	chr2:72691600-72693600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:72691600-72694000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:72691600-72694200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:72691600-72694200	Weak transcription	HMEC	breast
32	chr2:72691600-72694400	Weak transcription	A549	lung
33	chr2:72691600-72694800	Weak transcription	Primary T cells from cord blood	blood
34	chr2:72691600-72695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:72691600-72696200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:72691600-72698800	Weak transcription	Fetal Heart	heart
37	chr2:72691600-72699000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:72691600-72702000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:72691600-72702200	Weak transcription	Aorta	Aorta
40	chr2:72691600-72702200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:72691600-72702200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:72691600-72702200	Weak transcription	Lung	lung
43	chr2:72691600-72702400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:72691600-72702400	Weak transcription	NHEK	skin
45	chr2:72691600-72707600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:72691600-72724200	Weak transcription	HUVEC	blood vessel
47	chr2:72691600-72741800	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:72691800-72694000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:72691800-72694000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:72691800-72694200	Weak transcription	Fetal Intestine Large	intestine

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