Variant report

Variant	rs17129539
Chromosome Location	chr1:67417521-67417522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67402975..67406629-chr1:67416021..67418318,3	K562	blood:
2	chr1:67409222..67411478-chr1:67414962..67417860,3	K562	blood:
3	chr1:67398825..67400336-chr1:67415050..67417844,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489633	0.82[CEU][hapmap]
rs1074265	0.82[CEU][hapmap]
rs11799699	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11802888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11803444	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11806284	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810931	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810986	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12060891	0.82[CEU][hapmap]
rs12073258	0.82[CEU][hapmap]
rs12082503	0.82[CEU][hapmap]
rs12091194	0.81[CEU][hapmap]
rs17129533	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129572	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17129578	0.84[YRI][hapmap]
rs17129589	0.82[CEU][hapmap]
rs17129592	0.82[CEU][hapmap]
rs17129595	0.81[CEU][hapmap]
rs17129601	0.91[YRI][hapmap]
rs1983860	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985796	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985809	0.88[CEU][hapmap]
rs2985823	0.85[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008887	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008889	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008891	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008893	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286730	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57585878	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58283724	1.00[AMR][1000 genomes]
rs61587608	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6588234	0.82[CEU][hapmap]
rs66478764	1.00[ASN][1000 genomes]
rs66594421	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66643151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66773274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66979028	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67219200	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67262874	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67563312	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67835314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72671702	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673722	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673772	1.00[AMR][1000 genomes]
rs72926093	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72927953	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7528485	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
2	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
4	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
5	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
7	chr1:67403200-67419800	Weak transcription	Gastric	stomach
8	chr1:67403200-67429400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:67405200-67431400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:67405600-67445400	Strong transcription	Fetal Thymus	thymus
11	chr1:67406200-67433000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:67406400-67439200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:67406400-67455600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:67407000-67445400	Strong transcription	Dnd41	blood
15	chr1:67407600-67431200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:67408200-67448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:67408200-67450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:67409200-67426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:67409400-67446400	Weak transcription	Brain Angular Gyrus	brain
20	chr1:67409400-67447600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:67409600-67419400	Weak transcription	Fetal Heart	heart
22	chr1:67409600-67430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:67410000-67431200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:67410400-67433000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:67410600-67419800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:67410600-67446400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:67410600-67453200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:67410800-67426400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:67411000-67455000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:67411200-67419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:67411200-67419800	Strong transcription	Fetal Intestine Large	intestine
32	chr1:67411200-67421600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:67411200-67421600	Strong transcription	Placenta	Placenta
34	chr1:67411200-67429600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:67411200-67431400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:67411200-67431800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:67411200-67433800	Strong transcription	Liver	Liver
38	chr1:67411200-67454800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:67411200-67456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:67411400-67419000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:67411600-67429200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:67411600-67429400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:67411800-67417600	Strong transcription	NH-A	brain
44	chr1:67411800-67419400	Strong transcription	Hela-S3	cervix
45	chr1:67411800-67429200	Strong transcription	HMEC	breast
46	chr1:67412400-67419800	Weak transcription	A549	lung
47	chr1:67412600-67423000	Strong transcription	Primary T cells from cord blood	blood
48	chr1:67412800-67440600	Weak transcription	Psoas Muscle	Psoas
49	chr1:67413200-67432600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:67413400-67418000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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