Variant report

Variant	rs6720002
Chromosome Location	chr2:189170358-189170359
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189163618..189166579-chr2:189169104..189171149,2	K562	blood:
2	chr2:189168624..189170839-chr2:189170843..189173711,2	MCF-7	breast:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10168305	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175838	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179504	0.83[EUR][1000 genomes]
rs10179836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189197	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189416	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195059	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10199261	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199264	0.83[AFR][1000 genomes]
rs10204144	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209424	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469734	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469735	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931333	0.82[EUR][1000 genomes]
rs12151691	0.84[AFR][1000 genomes]
rs12329399	0.80[AFR][1000 genomes]
rs12693490	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693491	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693492	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693493	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693494	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693497	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987018	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987553	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995107	0.82[EUR][1000 genomes]
rs12995727	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003679	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027220	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029662	0.82[EUR][1000 genomes]
rs13032231	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385282	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388723	0.86[AFR][1000 genomes]
rs13390401	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390524	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394232	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394422	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403228	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404958	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412312	0.83[AFR][1000 genomes]
rs13413164	1.00[ASN][1000 genomes]
rs13429075	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004888	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000922	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34066981	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135749	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34140900	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34142137	0.82[EUR][1000 genomes]
rs34353529	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358898	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34395949	0.80[EUR][1000 genomes]
rs34484855	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34555222	0.82[EUR][1000 genomes]
rs34557812	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34575499	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762706	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762794	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35015018	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35060323	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35196443	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325130	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35355034	0.82[EUR][1000 genomes]
rs35442646	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536225	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699394	0.80[EUR][1000 genomes]
rs35877064	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36174757	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3889818	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3924673	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4128404	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349309	0.80[AFR][1000 genomes]
rs4433962	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4535011	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666757	0.82[EUR][1000 genomes]
rs4667219	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667220	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992742	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992743	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55852512	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434277	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66948063	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993342	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67086516	0.86[AFR][1000 genomes]
rs67092191	0.86[AFR][1000 genomes]
rs6718697	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720983	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67344766	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67389016	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748077	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67621133	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67804812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901602	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72909512	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72909520	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72911423	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571197	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571494	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579554	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593232	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288152	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288153	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808523	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808557	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
5	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
6	chr2:189165000-189170600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:189167200-189170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:189167200-189171600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:189167400-189172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:189168000-189170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:189168000-189172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:189168200-189172400	Weak transcription	Psoas Muscle	Psoas
13	chr2:189168200-189183200	Weak transcription	Ovary	ovary
14	chr2:189168400-189171200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:189168400-189173200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:189168600-189172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:189168600-189172600	Weak transcription	HMEC	breast
18	chr2:189168800-189170400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:189168800-189170600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:189168800-189172400	Weak transcription	NHEK	skin
21	chr2:189168800-189183200	Weak transcription	A549	lung
22	chr2:189169000-189170400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:189169000-189170600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:189169000-189171200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:189169000-189173600	Enhancers	HUVEC	blood vessel
26	chr2:189169200-189170600	Enhancers	Gastric	stomach
27	chr2:189169200-189171400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:189169200-189171400	Enhancers	Placenta	Placenta
29	chr2:189169200-189172600	Weak transcription	Osteobl	bone
30	chr2:189169400-189170600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:189169400-189171000	Weak transcription	HSMM	muscle
32	chr2:189169400-189171200	Weak transcription	NH-A	brain
33	chr2:189169400-189173600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:189169400-189173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:189169400-189187200	Weak transcription	NHLF	lung
36	chr2:189169600-189173400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:189169800-189171000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:189169800-189171600	Weak transcription	NHDF-Ad	bronchial
39	chr2:189170000-189170800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:189170200-189170400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:189170200-189170400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:189170200-189170400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:189170200-189170600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:189170200-189171200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:189170200-189171200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:189170200-189171800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:189170200-189173000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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