Variant report

Variant	rs4578839
Chromosome Location	chr2:33384142-33384143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33383408..33387314-chr2:33391651..33394582,3	K562	blood:
2	chr2:33382825..33385246-chr2:33385612..33388538,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10048733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10084248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10167324	0.94[ASN][1000 genomes]
rs10167399	0.94[ASN][1000 genomes]
rs10170980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10173416	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10189948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10195782	0.94[ASN][1000 genomes]
rs10201015	0.94[ASN][1000 genomes]
rs10201397	0.94[ASN][1000 genomes]
rs10201620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10205515	0.94[ASN][1000 genomes]
rs10514773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11675702	0.84[ASN][1000 genomes]
rs11686962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11691887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11692723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11886226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11886337	0.94[ASN][1000 genomes]
rs11898777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13392128	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13408945	0.94[ASN][1000 genomes]
rs13417478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13417974	1.00[ASN][1000 genomes]
rs13431080	1.00[ASN][1000 genomes]
rs17012612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17012655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17012691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012720	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2004437	0.89[EUR][1000 genomes]
rs2198568	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2290427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2290447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3769546	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4641915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57095191	0.94[ASN][1000 genomes]
rs57119251	0.94[ASN][1000 genomes]
rs57408328	1.00[ASN][1000 genomes]
rs60523332	0.94[ASN][1000 genomes]
rs60912788	1.00[ASN][1000 genomes]
rs61609498	1.00[ASN][1000 genomes]
rs61754245	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6543693	1.00[ASN][1000 genomes]
rs6543694	1.00[ASN][1000 genomes]
rs6543695	1.00[ASN][1000 genomes]
rs6543696	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6543697	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6706122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6718325	1.00[ASN][1000 genomes]
rs6722904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6728561	0.94[ASN][1000 genomes]
rs6730109	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6730341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734291	0.94[ASN][1000 genomes]
rs6746796	1.00[ASN][1000 genomes]
rs6752708	0.94[ASN][1000 genomes]
rs6757287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6757381	0.94[ASN][1000 genomes]
rs6760864	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72855723	1.00[ASN][1000 genomes]
rs72855746	0.94[ASN][1000 genomes]
rs72855774	0.94[ASN][1000 genomes]
rs72855787	0.94[ASN][1000 genomes]
rs72858037	0.94[ASN][1000 genomes]
rs72858071	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72858072	0.84[ASN][1000 genomes]
rs7568506	0.90[ASN][1000 genomes]
rs7583435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7603774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7606937	0.94[ASN][1000 genomes]
rs9308932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs964701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
2	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
3	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
4	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
5	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:33382000-33385000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:33382000-33386200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:33382200-33384200	Enhancers	NHLF	lung
9	chr2:33382400-33384600	Enhancers	NHEK	skin
10	chr2:33382600-33384800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:33382600-33384800	Enhancers	Fetal Heart	heart
12	chr2:33382600-33385000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:33382800-33384400	Enhancers	Left Ventricle	heart
14	chr2:33382800-33385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:33383000-33384400	Enhancers	Aorta	Aorta
16	chr2:33383000-33385400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:33383200-33384400	Enhancers	HSMM	muscle
18	chr2:33383400-33384200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:33383400-33384200	Flanking Active TSS	HUVEC	blood vessel
20	chr2:33383400-33384400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:33383400-33384400	Enhancers	Fetal Stomach	stomach
22	chr2:33383400-33384400	Enhancers	Ovary	ovary
23	chr2:33383400-33384400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:33383400-33384400	Enhancers	HMEC	breast
25	chr2:33383400-33384600	Enhancers	Colon Smooth Muscle	Colon
26	chr2:33383400-33385200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:33383800-33384200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:33383800-33384200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:33383800-33384200	Flanking Active TSS	NHDF-Ad	bronchial
30	chr2:33383800-33384400	Enhancers	HSMMtube	muscle
31	chr2:33383800-33384400	Flanking Active TSS	NH-A	brain
32	chr2:33384000-33384200	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:33384000-33384200	Enhancers	K562	blood
34	chr2:33384000-33384200	Transcr. at gene 5' and 3'	Osteobl	bone
35	chr2:33384000-33384400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:33384000-33384400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:33384000-33384400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:33384000-33384400	Enhancers	Lung	lung
39	chr2:33384000-33384400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr2:33384000-33385400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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