Variant report

Variant	rs17235124
Chromosome Location	chr13:95894041-95894042
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	chr13:95893721..95895916-chr13:95898093..95900583,2	K562	blood:
2	chr13:95881832..95883914-chr13:95893087..95895290,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11568637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11839316	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11839908	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11840532	0.83[ASN][1000 genomes]
rs11840612	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11841205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11843102	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11843272	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17235159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17235173	1.00[JPT][hapmap]
rs17300921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17300928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148423	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4148489	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs58763952	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59815481	0.86[ASN][1000 genomes]
rs60106349	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60223404	0.88[ASN][1000 genomes]
rs61180006	0.86[ASN][1000 genomes]
rs7321532	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7322029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7338004	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7338429	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9524879	0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs9590211	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9590230	0.83[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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
2	chr13:95856400-95898200	Weak transcription	NHEK	skin
3	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
4	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:95859200-95902200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:95861800-95899000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:95862000-95898200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:95862200-95898200	Weak transcription	HSMMtube	muscle
10	chr13:95863000-95898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:95863200-95895400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:95866200-95897400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:95866200-95897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:95872000-95897600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:95872200-95897400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:95874800-95897800	Weak transcription	Pancreas	Pancrea
17	chr13:95874800-95898200	Weak transcription	Colonic Mucosa	Colon
18	chr13:95875000-95897600	Weak transcription	Fetal Intestine Large	intestine
19	chr13:95879200-95907400	Weak transcription	Small Intestine	intestine
20	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:95879400-95897400	Weak transcription	Fetal Intestine Small	intestine
22	chr13:95879600-95898200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
24	chr13:95880800-95898600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:95880800-95902400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:95881600-95904000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:95882200-95898200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr13:95884000-95895400	Weak transcription	Lung	lung
29	chr13:95884000-95898200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:95884200-95901200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:95884600-95898200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr13:95884800-95906400	Weak transcription	Hela-S3	cervix
33	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:95887200-95898200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:95888000-95909000	Weak transcription	Fetal Stomach	stomach
36	chr13:95888400-95906800	Weak transcription	Gastric	stomach
37	chr13:95889000-95899400	Weak transcription	HUVEC	blood vessel
38	chr13:95890000-95897800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:95890000-95898600	Weak transcription	Fetal Lung	lung
40	chr13:95890000-95907600	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:95890800-95906400	Weak transcription	Osteobl	bone
42	chr13:95891800-95908000	Weak transcription	Esophagus	oesophagus
43	chr13:95892200-95894200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:95892400-95895000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr13:95892400-95895400	Weak transcription	NHLF	lung
46	chr13:95892400-95897000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr13:95892400-95897000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr13:95892600-95905400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr13:95892800-95895400	Weak transcription	GM12878-XiMat	blood
50	chr13:95893000-95905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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