Variant report

Variant	rs13423891
Chromosome Location	chr2:189209534-189209535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
2	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
3	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
4	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10167709	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10169317	0.86[ASN][1000 genomes]
rs10170220	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10174928	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10179504	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10180687	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10180956	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10182377	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10185828	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10189376	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10192374	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10195059	0.81[EUR][1000 genomes]
rs10198025	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10199112	0.86[ASN][1000 genomes]
rs10199264	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10202605	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10204674	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10206167	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10206696	0.86[ASN][1000 genomes]
rs10209733	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10210696	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10211189	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931355	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931358	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1125099	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11682085	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12151691	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12329399	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693498	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12987194	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12990374	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13384413	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13387350	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13388723	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13388746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13389155	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13389879	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13394421	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13397237	0.86[ASN][1000 genomes]
rs13397399	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13412312	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13415123	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13420369	0.86[ASN][1000 genomes]
rs13422246	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13422836	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13424536	0.88[ASN][1000 genomes]
rs13426709	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13427070	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28542209	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28564315	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34189381	0.81[ASN][1000 genomes]
rs34209722	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34253555	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34737832	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35954758	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36070354	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3890574	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4261684	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4274570	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4340469	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4349309	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4361092	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4381754	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4398237	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4430902	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4433962	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4458180	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4476318	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4522565	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4592814	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4640356	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4666758	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667225	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667226	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4667227	0.80[EUR][1000 genomes]
rs4992744	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55693630	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56072532	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58966470	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58978246	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59206116	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60796263	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434273	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6434280	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66923332	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66971459	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6704814	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6706666	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67086516	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67092191	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6718999	0.86[ASN][1000 genomes]
rs67240894	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6725860	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6727850	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6729182	0.88[ASN][1000 genomes]
rs6737728	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6739162	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743120	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6743636	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6756220	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6759539	0.86[ASN][1000 genomes]
rs6759766	0.86[ASN][1000 genomes]
rs6761769	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6761785	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67750782	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67790470	0.86[ASN][1000 genomes]
rs67798410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67919447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72907672	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72909512	0.81[EUR][1000 genomes]
rs72909520	0.81[EUR][1000 genomes]
rs72911423	0.81[EUR][1000 genomes]
rs73040452	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7420700	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7561448	0.84[EUR][1000 genomes]
rs7579610	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7582137	0.86[ASN][1000 genomes]
rs7593215	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593232	0.81[EUR][1000 genomes]
rs7595327	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7595377	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7606178	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607063	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9288157	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][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	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	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
4	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
5	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
6	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
7	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
3	chr2:189194600-189218200	Weak transcription	Gastric	stomach
4	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:189199400-189210800	Weak transcription	HUVEC	blood vessel
6	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
7	chr2:189199800-189212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:189200600-189221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:189201400-189209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:189205200-189228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:189205600-189210000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:189205600-189212000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:189205600-189215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:189205600-189227400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:189205800-189211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:189206000-189220400	Weak transcription	Fetal Stomach	stomach
17	chr2:189206200-189210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:189206200-189218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:189206400-189218800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:189207000-189211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:189208000-189211000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:189208800-189210200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:189208800-189210400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:189208800-189211000	Enhancers	Fetal Lung	lung
25	chr2:189209000-189209600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:189209000-189210000	Enhancers	Fetal Kidney	kidney
27	chr2:189209000-189210200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:189209400-189209600	Bivalent Enhancer	Fetal Brain Male	brain
29	chr2:189209400-189210200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:189209400-189210400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:189209400-189210600	Weak transcription	A549	lung
32	chr2:189209400-189211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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