Variant report

Variant	rs72907672
Chromosome Location	chr2:189197845-189197846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10167709	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10169317	0.89[ASN][1000 genomes]
rs10170220	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10174928	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10179504	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10180687	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10180956	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10182377	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10185828	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10189376	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10189416	0.82[AFR][1000 genomes]
rs10192374	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10195059	0.81[EUR][1000 genomes]
rs10198025	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10199112	0.89[ASN][1000 genomes]
rs10199264	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10202605	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10204674	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10206167	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10206696	0.89[ASN][1000 genomes]
rs10209733	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10210696	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10211189	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10931355	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931358	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1125099	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11682085	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12151691	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12329399	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12693497	0.82[AFR][1000 genomes]
rs12693498	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12987194	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12990374	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12995727	0.82[AFR][1000 genomes]
rs13014693	0.81[ASN][1000 genomes]
rs13032231	0.82[AFR][1000 genomes]
rs13384413	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13387350	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13388723	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13389155	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13389879	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13394421	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13397237	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13397399	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13404958	0.82[AFR][1000 genomes]
rs13412312	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13415123	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13420369	0.89[ASN][1000 genomes]
rs13422246	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13422836	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13423891	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13424536	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13426709	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13427070	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28542209	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28564315	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34189381	0.84[ASN][1000 genomes]
rs34209722	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34253555	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34575499	0.82[AFR][1000 genomes]
rs34737832	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35196443	0.82[AFR][1000 genomes]
rs35954758	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35964306	0.81[ASN][1000 genomes]
rs36070354	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890574	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4128404	0.82[AFR][1000 genomes]
rs4261684	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4274570	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4340469	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4349309	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4361092	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4381754	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4398237	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4430902	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4433962	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458180	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4476318	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4522565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592814	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4640356	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4666758	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667219	0.82[AFR][1000 genomes]
rs4667220	0.82[AFR][1000 genomes]
rs4667225	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667226	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4667227	0.80[EUR][1000 genomes]
rs4992742	0.82[AFR][1000 genomes]
rs4992743	0.85[AFR][1000 genomes]
rs4992744	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55693630	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56072532	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58966470	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58978246	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59206116	0.81[EUR][1000 genomes]
rs60796263	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6434273	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434277	0.82[AFR][1000 genomes]
rs6434280	0.80[EUR][1000 genomes]
rs66923332	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66971459	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6704814	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6706666	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67086516	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67092191	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718999	0.89[ASN][1000 genomes]
rs6720983	0.82[AFR][1000 genomes]
rs67240894	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725860	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6727850	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6729182	0.91[ASN][1000 genomes]
rs6737728	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67389016	0.82[AFR][1000 genomes]
rs6739162	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743120	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6743636	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6756220	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6759539	0.89[ASN][1000 genomes]
rs6759766	0.89[ASN][1000 genomes]
rs6761769	0.82[EUR][1000 genomes]
rs6761785	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67750782	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67790470	0.88[ASN][1000 genomes]
rs67798410	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67919447	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72909512	0.81[EUR][1000 genomes]
rs72909520	0.81[EUR][1000 genomes]
rs72911423	0.81[EUR][1000 genomes]
rs73040452	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7420700	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7561448	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7566619	0.81[ASN][1000 genomes]
rs7571197	0.82[AFR][1000 genomes]
rs7574262	0.81[ASN][1000 genomes]
rs7579554	0.82[AFR][1000 genomes]
rs7579610	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7582137	0.89[ASN][1000 genomes]
rs7586390	0.81[ASN][1000 genomes]
rs7593215	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7593232	0.81[EUR][1000 genomes]
rs7595327	0.82[EUR][1000 genomes]
rs7595377	0.87[ASN][1000 genomes]
rs7606178	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7607063	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288157	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv524228	chr2:189194029-189199195	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:189183800-189198600	Weak transcription	Ovary	ovary
5	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:189189200-189198400	Weak transcription	HUVEC	blood vessel
8	chr2:189192000-189205000	Weak transcription	Fetal Stomach	stomach
9	chr2:189192200-189198400	Weak transcription	NHLF	lung
10	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
11	chr2:189192800-189198400	Weak transcription	Fetal Lung	lung
12	chr2:189192800-189198600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:189193000-189198400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:189193000-189198400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:189193000-189198400	Weak transcription	NHDF-Ad	bronchial
16	chr2:189193000-189198600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:189193200-189198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:189194200-189198400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:189194200-189198400	Weak transcription	K562	blood
20	chr2:189194600-189198000	Weak transcription	Fetal Heart	heart
21	chr2:189194600-189218200	Weak transcription	Gastric	stomach
22	chr2:189195200-189198000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:189195400-189200800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:189195800-189198400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:189196000-189198000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:189196800-189199800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:189197000-189198800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:189197200-189198000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:189197200-189198000	Enhancers	Right Atrium	heart
30	chr2:189197200-189198200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:189197200-189198400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:189197200-189198400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:189197200-189198600	Enhancers	Brain Germinal Matrix	brain
34	chr2:189197200-189198600	Enhancers	Psoas Muscle	Psoas
35	chr2:189197200-189198800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr2:189197200-189198800	Enhancers	Fetal Muscle Leg	muscle
37	chr2:189197200-189198800	Enhancers	Left Ventricle	heart
38	chr2:189197200-189199200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:189197200-189200600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:189197200-189200600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:189197200-189200600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:189197400-189198600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:189197400-189198600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:189197400-189198600	Weak transcription	Osteobl	bone
45	chr2:189197400-189200000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:189197400-189200400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:189197600-189198000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:189197600-189198000	Enhancers	Pancreas	Pancrea
49	chr2:189197600-189198800	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:189197600-189199200	Weak transcription	Aorta	Aorta

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