Variant report

Variant	rs17300928
Chromosome Location	chr13:95912043-95912044
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95911255..95914596-chr13:95915357..95918944,4	K562	blood:

Extended variants
information (count: 29 )
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];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11839316	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11839908	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11840532	0.95[ASN][1000 genomes]
rs11840612	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11841205	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11843102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843272	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17235124	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]
rs17235159	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17235173	1.00[JPT][hapmap];1.00[LWK][hapmap]
rs17300921	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4148423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4148440	1.00[ASW][hapmap]
rs4148489	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs58763952	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60106349	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60223404	1.00[ASN][1000 genomes]
rs7321532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7338004	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338429	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs873706	1.00[ASW][hapmap]
rs9524879	0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9590211	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9590230	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv562769	chr13:95910726-95918063	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
3	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:95896200-95923400	Weak transcription	Ovary	ovary
5	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:95898800-95919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:95899000-95919600	Weak transcription	Fetal Lung	lung
8	chr13:95899800-95919600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:95900000-95918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:95900000-95918800	Weak transcription	Lung	lung
11	chr13:95900000-95919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:95904000-95917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:95907000-95917800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:95908000-95916600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:95908000-95926600	Weak transcription	Gastric	stomach
17	chr13:95908800-95917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:95908800-95917800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:95908800-95917800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:95908800-95918000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:95908800-95919400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:95908800-95919400	Weak transcription	NH-A	brain
23	chr13:95908800-95919600	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:95908800-95919600	Weak transcription	HSMMtube	muscle
25	chr13:95908800-95920000	Weak transcription	Pancreas	Pancrea
26	chr13:95909000-95917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:95909000-95919400	Weak transcription	HSMM	muscle
28	chr13:95909200-95912600	Weak transcription	HUVEC	blood vessel
29	chr13:95909200-95918200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:95909200-95919600	Weak transcription	NHEK	skin
31	chr13:95909400-95914600	Enhancers	HepG2	liver
32	chr13:95909400-95916200	Weak transcription	NHLF	lung
33	chr13:95909800-95912800	Enhancers	Duodenum Mucosa	Duodenum
34	chr13:95910000-95914600	Enhancers	Fetal Intestine Large	intestine
35	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:95910400-95912400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:95910400-95918600	Weak transcription	NHDF-Ad	bronchial
38	chr13:95910600-95918000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:95911000-95912800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:95911400-95912400	Weak transcription	Fetal Intestine Small	intestine
41	chr13:95911400-95917800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:95911400-95918000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:95911600-95912600	Weak transcription	Small Intestine	intestine
44	chr13:95911800-95912800	Strong transcription	K562	blood
45	chr13:95911800-95913400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:95911800-95914000	Flanking Active TSS	GM12878-XiMat	blood
47	chr13:95912000-95913800	Genic enhancers	A549	lung
48	chr13:95912000-95917800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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