Variant report

Variant	rs72981733
Chromosome Location	chr1:98377307-98377308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12059591	1.00[AMR][1000 genomes]
rs12074249	1.00[EUR][1000 genomes]
rs1889227	1.00[EUR][1000 genomes]
rs57653088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58243347	1.00[AMR][1000 genomes]
rs58638365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58639633	1.00[AMR][1000 genomes]
rs58893462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59037638	1.00[AMR][1000 genomes]
rs59356371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59538909	1.00[AMR][1000 genomes]
rs59954273	1.00[AMR][1000 genomes]
rs60078043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887083	1.00[AMR][1000 genomes]
rs60911244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61174144	1.00[AMR][1000 genomes]
rs61211497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61492808	1.00[AMR][1000 genomes]
rs6662081	1.00[AMR][1000 genomes]
rs72963706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963743	1.00[AMR][1000 genomes]
rs72963747	1.00[AMR][1000 genomes]
rs72963772	1.00[AMR][1000 genomes]
rs72967637	1.00[AMR][1000 genomes]
rs72967645	1.00[AMR][1000 genomes]
rs72967661	1.00[AMR][1000 genomes]
rs72969626	1.00[AMR][1000 genomes]
rs72969641	1.00[AMR][1000 genomes]
rs72969655	1.00[AMR][1000 genomes]
rs72969666	1.00[AMR][1000 genomes]
rs72969667	1.00[AMR][1000 genomes]
rs72969669	1.00[AMR][1000 genomes]
rs72969673	1.00[AMR][1000 genomes]
rs72969678	1.00[AMR][1000 genomes]
rs72969696	1.00[AMR][1000 genomes]
rs72969699	1.00[AMR][1000 genomes]
rs72979743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981771	1.00[EUR][1000 genomes]
rs72981774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106051	1.00[AMR][1000 genomes]
rs7517110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv830725	chr1:98257894-98443497	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv934244	chr1:98260729-98415915	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98367400-98382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:98368000-98384000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:98369800-98384000	Weak transcription	Right Atrium	heart
4	chr1:98370200-98379600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:98371200-98377400	Weak transcription	Brain Substantia Nigra	brain
6	chr1:98371200-98382400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:98371200-98383200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:98372600-98377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:98372600-98379200	Weak transcription	HMEC	breast
10	chr1:98372600-98383000	Weak transcription	Primary B cells from cord blood	blood
11	chr1:98372800-98379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:98373200-98383800	Weak transcription	Hela-S3	cervix
13	chr1:98373200-98384400	Weak transcription	NH-A	brain
14	chr1:98373400-98377400	Weak transcription	GM12878-XiMat	blood
15	chr1:98373400-98382200	Weak transcription	Liver	Liver
16	chr1:98373600-98383400	Weak transcription	HUVEC	blood vessel
17	chr1:98373600-98384400	Weak transcription	A549	lung
18	chr1:98374800-98377400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:98375600-98382200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:98376000-98377600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:98376000-98377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:98376000-98378000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:98376200-98379000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:98376800-98377600	Enhancers	Osteobl	bone
25	chr1:98376800-98377800	Enhancers	Thymus	Thymus
26	chr1:98376800-98378000	Flanking Active TSS	Dnd41	blood
27	chr1:98376800-98378000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:98376800-98378200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:98376800-98378400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:98376800-98378800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:98376800-98378800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:98377000-98377400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:98377000-98377400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:98377000-98377800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:98377000-98377800	Enhancers	Small Intestine	intestine
36	chr1:98377200-98377400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:98377200-98377600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:98377200-98377800	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:98377200-98377800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:98377200-98377800	Enhancers	Primary hematopoietic stem cells	blood
41	chr1:98377200-98377800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:98377200-98377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:98377200-98377800	Enhancers	Fetal Thymus	thymus
44	chr1:98377200-98378000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:98377200-98379000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:98377200-98382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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