Variant report

Variant	rs72936622
Chromosome Location	chr3:98568939-98568940
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	chr3:98561160..98564034-chr3:98567276..98569600,2	K562	blood:
2	chr3:98568796..98570579-chr3:98572052..98574202,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

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]
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]
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]
rs72936644	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:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98503400-98576400	Weak transcription	Gastric	stomach
2	chr3:98528200-98575400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:98536200-98594200	Weak transcription	HepG2	liver
4	chr3:98537000-98592800	Weak transcription	K562	blood
5	chr3:98538200-98569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:98552800-98575800	Weak transcription	Pancreas	Pancrea
7	chr3:98552800-98578000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:98552800-98579800	Weak transcription	Right Ventricle	heart
9	chr3:98553000-98575600	Weak transcription	Fetal Stomach	stomach
10	chr3:98553000-98576000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:98553000-98576200	Weak transcription	Left Ventricle	heart
12	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:98558200-98569400	Weak transcription	Fetal Intestine Large	intestine
14	chr3:98558200-98569600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:98558200-98577200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:98559000-98569000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:98559600-98576800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:98559800-98569400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:98560000-98575600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:98560200-98575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:98562400-98575600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:98563000-98574400	Weak transcription	HSMMtube	muscle
23	chr3:98563200-98569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:98563600-98576000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:98563800-98569200	Strong transcription	NHEK	skin
26	chr3:98564200-98569800	Strong transcription	HMEC	breast
27	chr3:98564600-98574800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:98565400-98569600	Weak transcription	Fetal Heart	heart
29	chr3:98565600-98569000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr3:98566200-98569000	Strong transcription	Osteobl	bone
31	chr3:98566400-98569200	Strong transcription	A549	lung
32	chr3:98566800-98569000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:98567200-98574600	Weak transcription	Psoas Muscle	Psoas
34	chr3:98567200-98575200	Weak transcription	Brain Germinal Matrix	brain
35	chr3:98567400-98575000	Weak transcription	Fetal Kidney	kidney
36	chr3:98567400-98575200	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:98567400-98578200	Weak transcription	Ovary	ovary
38	chr3:98567600-98569400	Weak transcription	Fetal Thymus	thymus
39	chr3:98567600-98571800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:98567600-98572200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:98567600-98572600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:98567600-98574000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:98567600-98574400	Weak transcription	NHLF	lung
44	chr3:98567600-98574800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:98567600-98574800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:98567600-98575000	Weak transcription	Fetal Lung	lung
47	chr3:98567600-98575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:98567600-98575400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:98567600-98575400	Weak transcription	Liver	Liver
50	chr3:98567600-98575400	Weak transcription	Stomach Smooth Muscle	stomach

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