Variant report

Variant	rs72936644
Chromosome Location	chr3:98584549-98584550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs13085453	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56996908	1.00[AMR][1000 genomes]
rs57492353	1.00[AMR][1000 genomes]
rs57581846	1.00[AMR][1000 genomes]
rs58345395	1.00[AMR][1000 genomes]
rs58880987	1.00[AMR][1000 genomes]
rs58977425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58988785	1.00[AMR][1000 genomes]
rs59256676	1.00[AMR][1000 genomes]
rs59462320	1.00[AMR][1000 genomes]
rs59480491	1.00[AMR][1000 genomes]
rs59581962	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59726038	1.00[AMR][1000 genomes]
rs60266120	1.00[AMR][1000 genomes]
rs60389001	1.00[AMR][1000 genomes]
rs60488063	1.00[AMR][1000 genomes]
rs60718786	1.00[AMR][1000 genomes]
rs61133181	1.00[AMR][1000 genomes]
rs61172524	1.00[AMR][1000 genomes]
rs61517408	1.00[AMR][1000 genomes]
rs72923005	1.00[AMR][1000 genomes]
rs72923016	1.00[AMR][1000 genomes]
rs72923020	1.00[AMR][1000 genomes]
rs72923040	1.00[AMR][1000 genomes]
rs72923043	1.00[AMR][1000 genomes]
rs72923045	1.00[AMR][1000 genomes]
rs72923046	1.00[AMR][1000 genomes]
rs72923053	1.00[AMR][1000 genomes]
rs72923071	1.00[AMR][1000 genomes]
rs72925007	1.00[AMR][1000 genomes]
rs72925011	1.00[AMR][1000 genomes]
rs72925074	1.00[AMR][1000 genomes]
rs72925099	1.00[AMR][1000 genomes]
rs72926923	1.00[AMR][1000 genomes]
rs72926985	1.00[AMR][1000 genomes]
rs72934627	1.00[AMR][1000 genomes]
rs72934633	1.00[AMR][1000 genomes]
rs72934639	1.00[AMR][1000 genomes]
rs72934644	1.00[AMR][1000 genomes]
rs72934650	1.00[AMR][1000 genomes]
rs72934662	1.00[AMR][1000 genomes]
rs72934664	1.00[AMR][1000 genomes]
rs72934665	1.00[AMR][1000 genomes]
rs72934681	1.00[AMR][1000 genomes]
rs72934683	1.00[AMR][1000 genomes]
rs72934691	1.00[AMR][1000 genomes]
rs72936622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936670	1.00[AFR][1000 genomes]
rs72936673	0.82[AFR][1000 genomes]
rs72936691	0.82[AFR][1000 genomes]
rs72936692	0.82[AFR][1000 genomes]
rs72936700	0.82[AFR][1000 genomes]
rs72938507	0.82[AFR][1000 genomes]
rs72938515	0.82[AFR][1000 genomes]
rs72938525	0.82[AFR][1000 genomes]
rs72938535	0.91[AFR][1000 genomes]
rs72938539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938557	0.91[AFR][1000 genomes]
rs72938573	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938585	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940515	1.00[AMR][1000 genomes]
rs72940521	1.00[AMR][1000 genomes]
rs72940528	1.00[AMR][1000 genomes]
rs72940538	1.00[AMR][1000 genomes]
rs72940543	1.00[AMR][1000 genomes]
rs72940552	1.00[AMR][1000 genomes]
rs72940570	1.00[AMR][1000 genomes]
rs72940573	1.00[AMR][1000 genomes]
rs72940576	1.00[AMR][1000 genomes]
rs72940577	1.00[AMR][1000 genomes]
rs72940581	1.00[AMR][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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv3323873	chr3:98581162-98585460	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3440308	chr3:98582662-98587060	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98536200-98594200	Weak transcription	HepG2	liver
2	chr3:98537000-98592800	Weak transcription	K562	blood
3	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:98575200-98590200	Weak transcription	HSMMtube	muscle
6	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:98575800-98593200	Weak transcription	HUVEC	blood vessel
8	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:98576000-98589800	Weak transcription	HMEC	breast
11	chr3:98576000-98590400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:98576000-98598600	Weak transcription	Fetal Kidney	kidney
13	chr3:98577200-98598800	Weak transcription	Left Ventricle	heart
14	chr3:98578000-98587400	Weak transcription	NHEK	skin
15	chr3:98578000-98588800	Weak transcription	NHLF	lung
16	chr3:98578000-98590400	Weak transcription	Adipose Nuclei	Adipose
17	chr3:98578000-98601000	Weak transcription	Lung	lung
18	chr3:98578200-98586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:98578200-98590400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:98578400-98586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:98578800-98589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:98583000-98584600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:98583600-98584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:98583600-98584600	ZNF genes & repeats	A549	lung
26	chr3:98583600-98584600	Strong transcription	NH-A	brain
27	chr3:98583600-98584800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:98583800-98584600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:98583800-98584800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr3:98583800-98590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:98584400-98585800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:98584400-98586200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:98584400-98586200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:98584400-98586200	Weak transcription	Osteobl	bone
35	chr3:98584400-98586400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:98584400-98586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:98584400-98586400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:98584400-98587400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:98584400-98587800	Weak transcription	HSMM	muscle
40	chr3:98584400-98589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:98584400-98589800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:98584400-98590000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:98584400-98590000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:98584400-98590200	Weak transcription	NHDF-Ad	bronchial
45	chr3:98584400-98591000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:98584400-98591000	Weak transcription	Dnd41	blood
47	chr3:98584400-98593400	Weak transcription	Fetal Heart	heart
48	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain

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