Variant report

Variant	rs17129601
Chromosome Location	chr1:67488274-67488275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11799699	0.91[YRI][hapmap]
rs11804229	0.81[AFR][1000 genomes]
rs11809283	0.84[AFR][1000 genomes]
rs11810931	0.90[YRI][hapmap]
rs11810986	0.91[YRI][hapmap]
rs17129533	0.91[YRI][hapmap]
rs17129539	0.91[YRI][hapmap]
rs17129553	0.88[AFR][1000 genomes]
rs17129572	0.91[YRI][hapmap]
rs17129578	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs3008891	0.83[YRI][hapmap]
rs57852719	0.84[AFR][1000 genomes]
rs72924194	0.81[AFR][1000 genomes]
rs72926008	0.81[AFR][1000 genomes]
rs72927907	0.88[AFR][1000 genomes]
rs7528485	0.90[YRI][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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
3	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
4	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
5	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:67468600-67501800	Weak transcription	Psoas Muscle	Psoas
9	chr1:67470800-67505400	Weak transcription	Gastric	stomach
10	chr1:67471800-67503800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:67472400-67502400	Weak transcription	Fetal Brain Male	brain
12	chr1:67473800-67518000	Weak transcription	A549	lung
13	chr1:67474600-67500800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:67476000-67504600	Weak transcription	Lung	lung
15	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
17	chr1:67479800-67503200	Weak transcription	K562	blood
18	chr1:67480800-67489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:67481000-67490600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:67481400-67488800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:67482600-67491000	Strong transcription	Primary T cells from cord blood	blood
22	chr1:67482600-67498800	Strong transcription	Fetal Intestine Large	intestine
23	chr1:67483200-67488600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:67483200-67488800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:67483200-67489000	Strong transcription	Primary B cells from cord blood	blood
26	chr1:67483400-67488400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:67483800-67488400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:67483800-67488400	Strong transcription	Fetal Thymus	thymus
29	chr1:67483800-67488600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:67484000-67489000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:67484000-67490800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:67484200-67488400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:67484200-67488800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:67484200-67489200	Strong transcription	Fetal Lung	lung
36	chr1:67484400-67488400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:67484400-67488400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:67484600-67490400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:67484800-67501800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:67485400-67490400	Weak transcription	Pancreas	Pancrea
41	chr1:67485400-67503600	Weak transcription	Ovary	ovary
42	chr1:67485400-67504000	Weak transcription	Brain Anterior Caudate	brain
43	chr1:67485400-67505800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:67485600-67488400	Genic enhancers	Liver	Liver
45	chr1:67485600-67489800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:67485600-67503000	Weak transcription	Placenta	Placenta
47	chr1:67485800-67488600	Enhancers	NH-A	brain
48	chr1:67485800-67490000	Weak transcription	HSMMtube	muscle
49	chr1:67485800-67490400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:67485800-67503000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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