Variant report

Variant	rs4381754
Chromosome Location	chr2:189280605-189280606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189271625..189274546-chr2:189280305..189282747,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10167709	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10170220	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10174928	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10175838	0.93[CEU][hapmap]
rs10179504	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10180000	0.92[CEU][hapmap]
rs10180956	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182377	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10185828	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10189197	0.93[CEU][hapmap]
rs10192374	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10195059	0.86[EUR][1000 genomes]
rs10198025	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10199264	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10204674	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10206167	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10209424	0.93[CEU][hapmap]
rs10209733	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210696	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs10211189	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469734	0.93[CEU][hapmap]
rs10469735	0.80[CEU][hapmap]
rs10931355	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931358	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931359	0.81[JPT][hapmap]
rs1125099	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11682085	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12151691	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12329399	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465164	0.81[JPT][hapmap]
rs12465625	0.81[JPT][hapmap]
rs12624002	0.81[JPT][hapmap]
rs12693490	0.91[CEU][hapmap]
rs12693491	0.92[CEU][hapmap]
rs12693492	0.88[CEU][hapmap]
rs12693493	0.92[CEU][hapmap]
rs12693497	0.92[CEU][hapmap]
rs12693498	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12987194	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs12990374	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997847	0.93[CEU][hapmap]
rs13003972	0.92[CEU][hapmap]
rs13032231	0.93[CEU][hapmap]
rs13382200	0.93[CEU][hapmap]
rs13384413	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13387350	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13388723	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13388746	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13389155	0.81[CEU][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13389879	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13390401	0.93[CEU][hapmap]
rs13394232	0.93[CEU][hapmap]
rs13394421	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13403228	0.92[CEU][hapmap]
rs13412312	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13415123	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13420369	0.91[JPT][hapmap]
rs13422246	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13422836	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13423891	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13424536	0.93[CEU][hapmap];0.93[JPT][hapmap]
rs13426709	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13427070	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13429075	0.92[CEU][hapmap]
rs2004888	0.92[CEU][hapmap]
rs28542209	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28564315	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34353529	0.92[CEU][hapmap]
rs35015018	0.83[EUR][1000 genomes]
rs35325130	0.83[EUR][1000 genomes]
rs3890574	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3924673	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs4128404	0.92[CEU][hapmap]
rs4274570	0.80[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4340469	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4349309	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4361092	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs4398237	0.93[CEU][hapmap];0.93[JPT][hapmap]
rs4430902	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs4433962	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4458180	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4476318	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513258	0.93[CEU][hapmap];0.93[JPT][hapmap]
rs4522565	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4535011	0.92[CEU][hapmap]
rs4640356	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs4666758	0.93[CEU][hapmap];0.93[JPT][hapmap]
rs4667219	0.92[CEU][hapmap]
rs4667220	0.91[CEU][hapmap]
rs4667225	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667226	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667227	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4992744	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs55693630	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56072532	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58966470	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58978246	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59206116	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60796263	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434277	0.93[CEU][hapmap]
rs6434280	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66732509	0.81[ASN][1000 genomes]
rs66923332	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6704814	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67086516	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67092191	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6718697	0.93[CEU][hapmap]
rs6720983	0.92[CEU][hapmap]
rs6725860	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6727850	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6729182	0.93[CEU][hapmap];0.93[JPT][hapmap]
rs6732963	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6737728	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6739162	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6743120	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743636	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6756220	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6761769	0.81[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761785	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67750782	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67798410	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67919447	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72907672	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72909512	0.86[EUR][1000 genomes]
rs72909520	0.86[EUR][1000 genomes]
rs72911423	0.86[EUR][1000 genomes]
rs73040452	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7420700	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7561448	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571197	0.92[CEU][hapmap]
rs7571494	0.93[CEU][hapmap]
rs7579610	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593215	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7593232	0.86[EUR][1000 genomes]
rs7595327	0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595377	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7606178	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7607063	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9288151	0.92[CEU][hapmap]
rs9288152	0.90[CEU][hapmap]
rs9288153	0.93[CEU][hapmap]
rs9288157	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9808523	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189251000-189285200	Weak transcription	Aorta	Aorta
2	chr2:189264000-189283800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:189270600-189281000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:189270600-189285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189270600-189285200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:189271000-189285200	Weak transcription	Fetal Lung	lung
7	chr2:189276200-189284400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:189276200-189285200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:189276400-189289800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:189276600-189290800	Weak transcription	Placenta	Placenta
11	chr2:189277000-189289400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:189277000-189289600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:189277200-189283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:189277200-189285200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:189277400-189283000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:189277400-189283600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:189277600-189285200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:189279600-189282200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:189279600-189282600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:189279800-189280800	Enhancers	Stomach Mucosa	stomach
21	chr2:189280200-189281200	Weak transcription	NHLF	lung
22	chr2:189280200-189285200	Weak transcription	Fetal Intestine Large	intestine
23	chr2:189280400-189282600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:189280400-189283000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:189280600-189281000	Active TSS	A549	lung

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