Variant report

Variant	rs4589758
Chromosome Location	chr2:113681846-113681847
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	chr2:113488382..113489971-chr2:113681773..113683855,2	MCF-7	breast:
2	chr2:113674868..113678484-chr2:113678490..113681949,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL37-2	chr2:113679974-113683444	ucscGeneNc_uc002tji_1

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10084249	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10170349	0.93[EUR][1000 genomes]
rs10173180	0.93[EUR][1000 genomes]
rs10199469	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13023868	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389731	0.96[EUR][1000 genomes]
rs13389817	0.96[EUR][1000 genomes]
rs13399759	0.96[EUR][1000 genomes]
rs13420333	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13423355	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17042542	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2464908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2464909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2464910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2464911	0.92[EUR][1000 genomes]
rs2464912	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2464913	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2466445	0.94[EUR][1000 genomes]
rs2466448	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2466449	0.97[ASN][1000 genomes]
rs2466451	0.92[EUR][1000 genomes]
rs2708917	0.89[EUR][1000 genomes]
rs2708924	0.91[EUR][1000 genomes]
rs2708925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2708926	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2708927	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708933	0.82[AFR][1000 genomes]
rs2708934	0.89[ASN][1000 genomes]
rs2708935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2708936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2708938	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708939	0.83[EUR][1000 genomes]
rs2708940	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708941	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2708942	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2708943	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708944	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708947	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708948	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708949	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708950	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708952	0.87[EUR][1000 genomes]
rs2708953	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708954	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708955	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708956	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708957	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708958	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708959	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708960	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708961	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708962	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708963	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708964	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708965	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2708966	0.94[EUR][1000 genomes]
rs2708967	0.94[EUR][1000 genomes]
rs2708968	0.93[EUR][1000 genomes]
rs2708969	0.93[EUR][1000 genomes]
rs2708970	0.83[EUR][1000 genomes]
rs2708972	0.97[ASN][1000 genomes]
rs2723150	0.91[EUR][1000 genomes]
rs2723153	0.84[ASN][1000 genomes]
rs2723155	0.81[ASN][1000 genomes]
rs2723156	0.94[EUR][1000 genomes]
rs2723159	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723160	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723162	0.98[EUR][1000 genomes]
rs2723164	0.98[EUR][1000 genomes]
rs2723165	0.96[EUR][1000 genomes]
rs2723166	0.96[EUR][1000 genomes]
rs2723168	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723169	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723170	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723171	0.94[EUR][1000 genomes]
rs2723173	0.96[EUR][1000 genomes]
rs2723174	0.93[EUR][1000 genomes]
rs2723175	0.93[EUR][1000 genomes]
rs2723176	0.98[ASN][1000 genomes]
rs2723177	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723179	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723180	0.98[EUR][1000 genomes]
rs2723181	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723182	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2723183	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723184	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723185	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723186	0.98[ASN][1000 genomes]
rs2723187	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723189	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723190	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723191	0.98[ASN][1000 genomes]
rs2723192	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723193	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723195	0.86[ASN][1000 genomes]
rs2723196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723198	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723203	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28947185	0.97[ASN][1000 genomes]
rs2954819	0.91[EUR][1000 genomes]
rs2954820	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4392270	0.98[ASN][1000 genomes]
rs4611652	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57092685	0.98[ASN][1000 genomes]
rs60011794	0.94[EUR][1000 genomes]
rs6725910	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6736642	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73959112	0.96[EUR][1000 genomes]
rs7577574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591311	0.96[EUR][1000 genomes]
rs7602680	0.98[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	nsv961338	chr2:113657963-113691422	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003372	chr2:113670890-113682621	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113671600-113683000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:113674400-113683000	Weak transcription	Gastric	stomach
3	chr2:113678200-113683400	Enhancers	Fetal Intestine Small	intestine
4	chr2:113678800-113683400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:113679200-113682400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr2:113679600-113682800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:113681000-113682400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:113681000-113682400	Enhancers	Colonic Mucosa	Colon
9	chr2:113681000-113683000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:113681200-113682200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:113681200-113682400	Enhancers	Fetal Intestine Large	intestine
12	chr2:113681200-113682600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:113681200-113683800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:113681600-113682800	Enhancers	K562	blood
15	chr2:113681800-113682200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:113681800-113682600	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:113681800-113683000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:113681800-113683400	Enhancers	Stomach Mucosa	stomach

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