Variant report

Variant	rs17390300
Chromosome Location	chr1:45326023-45326024
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	chr1:45319455..45322857-chr1:45323928..45326190,3	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10157761	0.88[EUR][1000 genomes]
rs10159318	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10218751	0.88[EUR][1000 genomes]
rs1022814	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1114390	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211042	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs11211043	0.96[EUR][1000 genomes]
rs11211052	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211061	0.85[EUR][1000 genomes]
rs11211062	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs11211063	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs114833	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12057238	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12080887	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12093313	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12095412	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs12402452	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs12402781	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12403201	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs12404127	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12404160	0.84[ASN][1000 genomes]
rs12404168	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12405110	0.92[EUR][1000 genomes]
rs12405721	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12407290	0.87[CEU][hapmap]
rs12407565	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12408763	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410088	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12411070	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13374816	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1392035	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1572379	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1627320	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16832249	0.92[EUR][1000 genomes]
rs16832251	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs16832301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17390328	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17390356	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17390398	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17390824	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17390859	0.88[EUR][1000 genomes]
rs17390900	0.88[EUR][1000 genomes]
rs17390983	0.88[EUR][1000 genomes]
rs17392632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174636	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17885815	0.84[ASN][1000 genomes]
rs2078329	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2102035	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs2133501	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2261859	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2295996	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs263960	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263961	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263967	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs263971	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs263979	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs263981	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs264002	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs264004	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs264006	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs264007	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs264010	0.86[EUR][1000 genomes]
rs264015	0.86[EUR][1000 genomes]
rs28700974	0.90[EUR][1000 genomes]
rs28707013	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28819230	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35700678	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs371098	0.88[EUR][1000 genomes]
rs3738248	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3767490	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3795715	0.82[CEU][hapmap]
rs3795718	0.94[CEU][hapmap]
rs3889352	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3889822	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3923304	0.93[CEU][hapmap]
rs392410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4073112	0.93[CEU][hapmap]
rs4082644	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41269085	0.93[EUR][1000 genomes]
rs423959	0.85[EUR][1000 genomes]
rs427392	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs435311	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4415616	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs441876	0.88[EUR][1000 genomes]
rs4424549	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4472791	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4515833	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4520451	0.84[ASN][1000 genomes]
rs471564	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs539409	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs546354	0.88[EUR][1000 genomes]
rs55708712	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55756712	0.88[EUR][1000 genomes]
rs55792507	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55807836	0.90[EUR][1000 genomes]
rs55851444	0.88[EUR][1000 genomes]
rs55893665	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55916129	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55926235	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56102504	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57104118	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57769237	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58191426	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59050077	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59552012	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59559455	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59938994	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60082006	0.88[EUR][1000 genomes]
rs606873	0.88[EUR][1000 genomes]
rs60741033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60787198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608649	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61149327	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61673889	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs637224	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs640743	0.88[EUR][1000 genomes]
rs6657078	0.91[EUR][1000 genomes]
rs6684417	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67058449	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674049	0.92[EUR][1000 genomes]
rs72674051	0.92[EUR][1000 genomes]
rs72674064	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72674081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72676504	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676505	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72676509	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676513	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72676525	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72676529	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72676536	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72676539	0.92[EUR][1000 genomes]
rs72676542	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676550	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676553	0.88[EUR][1000 genomes]
rs72676555	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676557	0.92[EUR][1000 genomes]
rs72676559	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72676561	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676563	0.89[EUR][1000 genomes]
rs72676581	0.88[EUR][1000 genomes]
rs72676600	0.85[EUR][1000 genomes]
rs72677810	0.88[EUR][1000 genomes]
rs7515226	1.00[CEU][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs7519592	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7529213	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7529221	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7531391	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7533716	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7546853	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9662872	0.86[EUR][1000 genomes]
rs9662878	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
3	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
4	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
5	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45308800-45345400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45309000-45332600	Weak transcription	Spleen	Spleen
3	chr1:45309000-45335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:45309200-45336800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:45309200-45337800	Weak transcription	Psoas Muscle	Psoas
6	chr1:45309200-45343000	Weak transcription	Esophagus	oesophagus
7	chr1:45309200-45345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:45309400-45326400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:45309400-45338200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:45309400-45339600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:45309400-45340000	Weak transcription	NHLF	lung
13	chr1:45309400-45340400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:45309400-45343000	Weak transcription	Colonic Mucosa	Colon
15	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
16	chr1:45309600-45343000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
18	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
19	chr1:45313400-45343600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
21	chr1:45314600-45349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:45315000-45340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:45315000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:45315000-45349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:45315200-45345000	Weak transcription	Right Ventricle	heart
26	chr1:45315400-45327200	Weak transcription	Right Atrium	heart
27	chr1:45315600-45332600	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:45315600-45343000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:45315800-45326200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:45315800-45326600	Weak transcription	Osteobl	bone
31	chr1:45315800-45337600	Weak transcription	HepG2	liver
32	chr1:45316000-45326200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:45316000-45326200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:45316000-45326600	Weak transcription	Brain Anterior Caudate	brain
35	chr1:45316000-45328600	Weak transcription	NHEK	skin
36	chr1:45316000-45336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:45316000-45337400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:45316000-45341000	Weak transcription	Thymus	Thymus
39	chr1:45316000-45349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:45316200-45332800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:45316800-45340400	Weak transcription	Fetal Lung	lung
43	chr1:45316800-45340600	Weak transcription	Lung	lung
44	chr1:45317000-45332800	Weak transcription	Gastric	stomach
45	chr1:45317200-45334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:45317600-45329200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
48	chr1:45318400-45331200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:45320000-45348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:45320600-45326200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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