Variant report

Variant	rs2233210
Chromosome Location	chr5:52403040-52403041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10054155	1.00[CHB][hapmap]
rs10120	1.00[CHB][hapmap]
rs3212521	1.00[CHB][hapmap]
rs3212557	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
2	chr5:52372400-52404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:52387600-52405000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:52389400-52404800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:52390200-52403800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:52390800-52403800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:52391600-52403200	Weak transcription	Fetal Heart	heart
9	chr5:52392000-52404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:52392400-52403400	Strong transcription	Liver	Liver
11	chr5:52392400-52404800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:52392800-52403400	Strong transcription	Left Ventricle	heart
13	chr5:52392800-52403600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:52393000-52405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:52393800-52404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:52394800-52403600	Strong transcription	Primary B cells from cord blood	blood
17	chr5:52395400-52404800	Weak transcription	Aorta	Aorta
18	chr5:52395400-52405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:52395600-52403200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:52395600-52404400	Weak transcription	Thymus	Thymus
21	chr5:52395600-52404600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:52395600-52404800	Weak transcription	Colonic Mucosa	Colon
23	chr5:52395600-52404800	Weak transcription	Esophagus	oesophagus
24	chr5:52395600-52404800	Weak transcription	Fetal Brain Male	brain
25	chr5:52395600-52404800	Weak transcription	Pancreas	Pancrea
26	chr5:52395600-52404800	Weak transcription	Right Ventricle	heart
27	chr5:52395600-52405000	Weak transcription	Gastric	stomach
28	chr5:52395600-52405400	Weak transcription	Spleen	Spleen
29	chr5:52395800-52404600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:52395800-52404600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:52395800-52404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:52395800-52405000	Weak transcription	Lung	lung
33	chr5:52395800-52405200	Weak transcription	Small Intestine	intestine
34	chr5:52396200-52404800	Weak transcription	Brain Angular Gyrus	brain
35	chr5:52396200-52404800	Weak transcription	Ovary	ovary
36	chr5:52396400-52404600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:52396400-52404800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:52396600-52404400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:52396600-52404800	Weak transcription	Brain Substantia Nigra	brain
40	chr5:52397000-52404200	Weak transcription	GM12878-XiMat	blood
41	chr5:52397200-52404400	Weak transcription	Brain Anterior Caudate	brain
42	chr5:52397400-52403200	Weak transcription	Hela-S3	cervix
43	chr5:52397400-52404400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:52397400-52404600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:52397400-52404600	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:52397800-52403200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:52398000-52403400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:52398000-52404000	Weak transcription	NHDF-Ad	bronchial
49	chr5:52398000-52404600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:52398000-52404600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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