Variant report

Variant	rs153601
Chromosome Location	chr5:52403786-52403787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10940291	0.86[JPT][hapmap]
rs153602	0.91[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298431	0.86[JPT][hapmap]
rs17298473	0.86[JPT][hapmap]
rs2052568	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068247	0.91[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3756532	0.92[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292007	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	chr5:52392000-52404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:52392400-52404800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:52393000-52405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:52393800-52404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:52395400-52404800	Weak transcription	Aorta	Aorta
13	chr5:52395400-52405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:52395600-52404400	Weak transcription	Thymus	Thymus
15	chr5:52395600-52404600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:52395600-52404800	Weak transcription	Colonic Mucosa	Colon
17	chr5:52395600-52404800	Weak transcription	Esophagus	oesophagus
18	chr5:52395600-52404800	Weak transcription	Fetal Brain Male	brain
19	chr5:52395600-52404800	Weak transcription	Pancreas	Pancrea
20	chr5:52395600-52404800	Weak transcription	Right Ventricle	heart
21	chr5:52395600-52405000	Weak transcription	Gastric	stomach
22	chr5:52395600-52405400	Weak transcription	Spleen	Spleen
23	chr5:52395800-52404600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:52395800-52404600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:52395800-52404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:52395800-52405000	Weak transcription	Lung	lung
27	chr5:52395800-52405200	Weak transcription	Small Intestine	intestine
28	chr5:52396200-52404800	Weak transcription	Brain Angular Gyrus	brain
29	chr5:52396200-52404800	Weak transcription	Ovary	ovary
30	chr5:52396400-52404600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:52396400-52404800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:52396600-52404400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:52396600-52404800	Weak transcription	Brain Substantia Nigra	brain
34	chr5:52397000-52404200	Weak transcription	GM12878-XiMat	blood
35	chr5:52397200-52404400	Weak transcription	Brain Anterior Caudate	brain
36	chr5:52397400-52404400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:52397400-52404600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:52397400-52404600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:52398000-52404000	Weak transcription	NHDF-Ad	bronchial
40	chr5:52398000-52404600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:52398000-52404600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:52398000-52404800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:52398400-52404000	Weak transcription	HUVEC	blood vessel
44	chr5:52398600-52404200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:52399000-52404800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:52399600-52404800	Weak transcription	HSMMtube	muscle
47	chr5:52399600-52404800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:52399800-52404400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:52399800-52404400	Weak transcription	Psoas Muscle	Psoas
50	chr5:52399800-52404600	Weak transcription	Fetal Stomach	stomach

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