Variant report

Variant	rs72936606
Chromosome Location	chr3:98561114-98561115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2449044	1.00[AMR][1000 genomes]
rs2929492	1.00[AMR][1000 genomes]
rs56694316	1.00[AMR][1000 genomes]
rs56857413	1.00[AMR][1000 genomes]
rs56914517	1.00[AMR][1000 genomes]
rs57266345	1.00[AFR][1000 genomes]
rs58255898	0.82[AFR][1000 genomes]
rs59684850	0.95[AFR][1000 genomes]
rs60878971	1.00[AMR][1000 genomes]
rs61228839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923090	1.00[AMR][1000 genomes]
rs72930963	0.95[AFR][1000 genomes]
rs72930970	0.95[AFR][1000 genomes]
rs72934618	1.00[AFR][1000 genomes]
rs72934634	0.95[AFR][1000 genomes]
rs72936636	0.91[AFR][1000 genomes]
rs72936671	0.87[AFR][1000 genomes]
rs72936680	0.87[AFR][1000 genomes]
rs72938508	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938510	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938577	1.00[AMR][1000 genomes]
rs72940503	0.91[AFR][1000 genomes];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:70 , 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	chr3:98528600-98562000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:98536200-98594200	Weak transcription	HepG2	liver
5	chr3:98537000-98567000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:98537000-98592800	Weak transcription	K562	blood
7	chr3:98538200-98569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:98541200-98567000	Weak transcription	Liver	Liver
9	chr3:98541400-98565000	Weak transcription	HUVEC	blood vessel
10	chr3:98545400-98561600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:98548800-98566600	Weak transcription	Adipose Nuclei	Adipose
12	chr3:98550200-98568600	Weak transcription	Thymus	Thymus
13	chr3:98550800-98561800	Weak transcription	HSMMtube	muscle
14	chr3:98551600-98562000	Weak transcription	Fetal Heart	heart
15	chr3:98552600-98566600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:98552600-98567000	Weak transcription	Fetal Kidney	kidney
17	chr3:98552800-98561400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:98552800-98566600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:98552800-98575800	Weak transcription	Pancreas	Pancrea
20	chr3:98552800-98578000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:98552800-98579800	Weak transcription	Right Ventricle	heart
22	chr3:98553000-98561400	Weak transcription	Fetal Lung	lung
23	chr3:98553000-98562400	Weak transcription	NHLF	lung
24	chr3:98553000-98563200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:98553000-98565800	Weak transcription	Ovary	ovary
26	chr3:98553000-98566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:98553000-98566800	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:98553000-98567000	Weak transcription	Brain Germinal Matrix	brain
29	chr3:98553000-98575600	Weak transcription	Fetal Stomach	stomach
30	chr3:98553000-98576000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:98553000-98576200	Weak transcription	Left Ventricle	heart
32	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:98558000-98562400	Strong transcription	NH-A	brain
34	chr3:98558200-98561400	Strong transcription	Osteobl	bone
35	chr3:98558200-98566800	Weak transcription	Fetal Thymus	thymus
36	chr3:98558200-98569400	Weak transcription	Fetal Intestine Large	intestine
37	chr3:98558200-98569600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:98558200-98577200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:98558400-98566400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:98558400-98568800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:98558800-98561600	Weak transcription	NHDF-Ad	bronchial
42	chr3:98558800-98567000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:98559000-98567000	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:98559000-98569000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:98559600-98561200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:98559600-98576800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:98559800-98565800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:98559800-98566800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:98559800-98567000	Weak transcription	Dnd41	blood
50	chr3:98559800-98569400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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