Variant report

Variant	rs13399607
Chromosome Location	chr2:33561821-33561822
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	chr2:33534966..33536584-chr2:33559745..33561963,2	MCF-7	breast:
2	chr2:33554971..33557326-chr2:33560751..33562954,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10175619	0.86[EUR][1000 genomes]
rs12624081	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394170	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13394195	0.80[EUR][1000 genomes]
rs13403065	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13414720	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13432307	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148927	0.88[ASN][1000 genomes]
rs723043	0.82[EUR][1000 genomes]
rs749455	0.82[ASN][1000 genomes]
rs7581438	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs877672	0.82[ASN][1000 genomes]
rs9308934	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
3	chr2:33542000-33572200	Weak transcription	Liver	Liver
4	chr2:33547200-33567200	Weak transcription	NH-A	brain
5	chr2:33547600-33567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:33547600-33579800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:33547800-33581000	Weak transcription	Fetal Lung	lung
8	chr2:33548000-33567200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:33548200-33562000	Weak transcription	NHDF-Ad	bronchial
10	chr2:33548200-33562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:33548200-33565400	Weak transcription	NHLF	lung
12	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:33548800-33567000	Weak transcription	Left Ventricle	heart
14	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:33549200-33563200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:33549200-33563600	Weak transcription	Aorta	Aorta
17	chr2:33549200-33565400	Weak transcription	Ovary	ovary
18	chr2:33549200-33567800	Weak transcription	Fetal Heart	heart
19	chr2:33550600-33577600	Weak transcription	Fetal Stomach	stomach
20	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:33560600-33565000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:33560800-33562400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:33560800-33562400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:33561000-33562000	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:33561000-33562000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:33561000-33562400	Enhancers	HUVEC	blood vessel
27	chr2:33561000-33565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:33561200-33562000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:33561200-33562000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:33561200-33572400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:33561400-33565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:33561600-33563200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:33561600-33563600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:33561600-33565400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:33561600-33572600	Weak transcription	Gastric	stomach
36	chr2:33561800-33562000	Enhancers	Primary B cells from cord blood	blood
37	chr2:33561800-33562400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr2:33561800-33562600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:33561800-33563200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:33561800-33563400	Weak transcription	Osteobl	bone
41	chr2:33561800-33566200	Weak transcription	Spleen	Spleen

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