Variant report

Variant	rs1578242
Chromosome Location	chr1:193236656-193236657
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	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10399607	0.89[ASN][1000 genomes]
rs10399929	0.89[ASN][1000 genomes]
rs10494674	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs10732293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10733078	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs10737620	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs10737621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10737622	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10737623	0.97[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10754047	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10754048	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10754049	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10754052	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10754053	0.87[ASN][1000 genomes]
rs10754054	0.98[ASN][1000 genomes]
rs10754055	0.97[ASN][1000 genomes]
rs10801173	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs10801174	1.00[CEU][hapmap]
rs10801177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10801178	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10801179	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10801183	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10801184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10801187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10801188	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10801190	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10801191	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801192	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921308	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10921312	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10921318	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs10921323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10921325	0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs10921326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10921328	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921330	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921334	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921336	1.00[ASN][1000 genomes]
rs11577299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs12047390	0.82[CHB][hapmap]
rs12064521	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12078145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090626	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12124282	0.89[EUR][1000 genomes]
rs12126529	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12145057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs12410213	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1325197	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1361404	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs1361405	0.82[CHB][hapmap]
rs1408830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1416977	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1536097	0.86[ASN][1000 genomes]
rs1536098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1536099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1539724	0.91[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs1578243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1632444	0.97[ASN][1000 genomes]
rs1749424	0.96[ASN][1000 genomes]
rs1770000	0.87[EUR][1000 genomes]
rs1890660	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2078083	0.96[ASN][1000 genomes]
rs2181408	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2182106	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2186016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2251699	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254646	0.96[ASN][1000 genomes]
rs2275444	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2370029	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2370079	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2486842	0.95[ASN][1000 genomes]
rs2486843	0.88[EUR][1000 genomes]
rs3738244	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3806351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4379660	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4450000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4466634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4657744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4657747	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4657843	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4657847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs4657848	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs474328	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475163	1.00[ASN][1000 genomes]
rs503265	0.96[ASN][1000 genomes]
rs524701	1.00[ASN][1000 genomes]
rs531327	0.89[EUR][1000 genomes]
rs543788	0.97[ASN][1000 genomes]
rs569656	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs571029	0.97[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6428153	0.88[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs6428155	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6428156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6428157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6428159	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6428160	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662104	0.84[EUR][1000 genomes]
rs6663162	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6665069	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6665666	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6671237	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6671476	0.97[ASN][1000 genomes]
rs6673271	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6675827	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675833	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6676878	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6680224	0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6689006	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697079	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6702762	0.84[EUR][1000 genomes]
rs693519	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs7514072	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs7515024	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7518792	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7519242	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7534504	0.80[EUR][1000 genomes]
rs7542466	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs7543029	0.84[EUR][1000 genomes]
rs7545223	0.89[ASN][1000 genomes]
rs7546869	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7547615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs7554925	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs817136	1.00[ASN][1000 genomes]
rs817140	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs843844	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs912070	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs912071	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs942680	1.00[ASN][1000 genomes]
rs9783104	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9887974	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv3436652	chr1:193234354-193236902	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3377374	chr1:193234704-193236677	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
4	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
7	chr1:193218200-193236800	Weak transcription	A549	lung
8	chr1:193218400-193239200	Weak transcription	Osteobl	bone
9	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
10	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:193220400-193237200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:193220600-193239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:193227800-193237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:193228200-193236800	Weak transcription	Fetal Thymus	thymus
18	chr1:193228400-193237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:193228400-193239200	Weak transcription	Aorta	Aorta
20	chr1:193228400-193239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:193228400-193243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:193228400-193244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:193229600-193239200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:193229600-193240800	Weak transcription	Gastric	stomach
26	chr1:193230000-193236800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:193231200-193236800	Weak transcription	Fetal Lung	lung
28	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:193232000-193237200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
31	chr1:193232200-193238800	Weak transcription	Primary B cells from cord blood	blood
32	chr1:193232200-193239400	Weak transcription	HSMMtube	muscle
33	chr1:193232200-193239600	Weak transcription	NHLF	lung
34	chr1:193232600-193244600	Weak transcription	Primary T cells from cord blood	blood
35	chr1:193234000-193237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:193234000-193239400	Weak transcription	NH-A	brain
37	chr1:193234000-193239800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:193235200-193240200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:193235400-193237000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:193235400-193237600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:193235400-193239400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:193235400-193240200	Weak transcription	GM12878-XiMat	blood
43	chr1:193235400-193242200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:193235400-193243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:193235400-193252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:193235600-193237400	Weak transcription	HSMM	muscle

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