Variant report

Variant	rs3738248
Chromosome Location	chr1:45345446-45345447
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45284257..45286382-chr1:45343717..45346467,2	K562	blood:
2	chr1:45344619..45346710-chr1:45475066..45477559,2	MCF-7	breast:
3	chr1:45344734..45347015-chr1:45348415..45350873,2	K562	blood:
4	chr1:45183934..45186211-chr1:45344753..45346709,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000126107	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10157761	0.92[EUR][1000 genomes]
rs10159318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10218751	0.91[EUR][1000 genomes]
rs1022814	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1114390	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211042	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs11211043	0.96[EUR][1000 genomes]
rs11211052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211061	0.88[EUR][1000 genomes]
rs11211062	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs11211063	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs114833	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12080887	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12093313	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12095412	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs12402452	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes]
rs12403201	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes]
rs12404127	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12404168	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12405110	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12405721	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12407290	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12407565	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12407627	1.00[JPT][hapmap]
rs12408763	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12410088	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12411070	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13373817	0.83[ASN][1000 genomes]
rs13374816	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1392035	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1572379	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1627320	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16832249	0.88[EUR][1000 genomes]
rs16832251	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs16832301	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17390300	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17390328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17390356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17390398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17390824	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17390859	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17390900	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17390983	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17391430	1.00[JPT][hapmap]
rs17392632	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs174636	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2078329	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2102035	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2133501	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2261859	0.90[EUR][1000 genomes]
rs2295996	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs263960	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263961	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs263967	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs263971	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs263979	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs263981	0.95[EUR][1000 genomes]
rs264002	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs264004	0.90[EUR][1000 genomes]
rs264006	0.90[EUR][1000 genomes]
rs264007	0.90[EUR][1000 genomes]
rs264010	0.88[EUR][1000 genomes]
rs264015	0.88[EUR][1000 genomes]
rs28700974	0.91[EUR][1000 genomes]
rs28707013	0.91[EUR][1000 genomes]
rs28819230	0.90[EUR][1000 genomes]
rs35700678	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs371098	0.90[EUR][1000 genomes]
rs3767490	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795712	1.00[JPT][hapmap]
rs3795715	1.00[JPT][hapmap]
rs3795718	0.94[CEU][hapmap]
rs3889352	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3889822	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3923304	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs392410	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4073112	0.93[CEU][hapmap]
rs4082644	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41269085	0.93[EUR][1000 genomes]
rs423959	0.87[EUR][1000 genomes]
rs427392	0.90[EUR][1000 genomes]
rs435311	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4415616	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs441876	0.90[EUR][1000 genomes]
rs4424549	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4472791	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4515833	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471564	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs539409	0.90[EUR][1000 genomes]
rs546354	0.90[EUR][1000 genomes]
rs55708712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55756712	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55792507	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55807836	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55851444	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55893665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55916129	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55926235	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56102504	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57104118	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57769237	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58191426	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59050077	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59552012	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59559455	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59938994	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60082006	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs606873	0.90[EUR][1000 genomes]
rs60741033	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60787198	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs608649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61149327	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61673889	0.91[EUR][1000 genomes]
rs637224	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs640743	0.90[EUR][1000 genomes]
rs6657078	0.89[EUR][1000 genomes]
rs6684417	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67058449	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72674049	0.88[EUR][1000 genomes]
rs72674051	0.92[EUR][1000 genomes]
rs72674064	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72674081	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72674084	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676504	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72676505	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676509	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72676513	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676525	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72676529	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72676536	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676539	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676542	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72676550	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72676553	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72676555	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72676557	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676559	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72676561	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72676563	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72676581	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676600	0.88[EUR][1000 genomes]
rs72677810	0.92[EUR][1000 genomes]
rs7515226	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7519592	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7529213	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7529221	0.90[EUR][1000 genomes]
rs7531391	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7533716	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7546853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662872	0.89[EUR][1000 genomes]
rs9662878	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
3	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
4	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
5	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
6	chr1:45314600-45349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:45315000-45349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:45316000-45349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
11	chr1:45320000-45348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:45322000-45350400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
14	chr1:45326000-45346600	Weak transcription	HMEC	breast
15	chr1:45326800-45349000	Weak transcription	GM12878-XiMat	blood
16	chr1:45326800-45350400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:45327800-45350000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:45331200-45352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:45331600-45352400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:45332600-45357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:45333400-45357000	Weak transcription	Fetal Kidney	kidney
22	chr1:45334600-45371800	Weak transcription	Gastric	stomach
23	chr1:45336000-45347600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:45337400-45355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:45337800-45347000	Weak transcription	Fetal Brain Female	brain
26	chr1:45338800-45349000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
28	chr1:45341200-45352200	Weak transcription	Fetal Lung	lung
29	chr1:45341200-45354000	Weak transcription	Stomach Mucosa	stomach
30	chr1:45341200-45355600	Weak transcription	NHLF	lung
31	chr1:45341400-45346800	Weak transcription	Thymus	Thymus
32	chr1:45341400-45348600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:45341400-45349000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:45341400-45354800	Weak transcription	Psoas Muscle	Psoas
35	chr1:45342800-45347200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:45342800-45347600	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:45342800-45348000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:45343000-45345600	Strong transcription	Brain Anterior Caudate	brain
39	chr1:45343000-45345600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr1:45343000-45345800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:45343000-45345800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:45343000-45345800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:45343000-45345800	Strong transcription	Adipose Nuclei	Adipose
44	chr1:45343000-45345800	Strong transcription	Pancreas	Pancrea
45	chr1:45343000-45346000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:45343000-45346200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:45343000-45346200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:45343000-45346200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:45343000-45346200	Strong transcription	Brain Hippocampus Middle	brain
50	chr1:45343000-45346200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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