Variant report

Variant	rs13387581
Chromosome Location	chr2:33422815-33422816
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10048733	0.89[YRI][hapmap]
rs10048778	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10084248	0.94[YRI][hapmap]
rs10167324	1.00[CEU][hapmap]
rs10167399	1.00[CEU][hapmap]
rs10170803	0.83[YRI][hapmap]
rs10170980	0.89[YRI][hapmap]
rs10172685	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10188467	0.81[AFR][1000 genomes]
rs10189948	0.89[YRI][hapmap]
rs10201412	1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201620	1.00[MEX][hapmap];0.89[YRI][hapmap]
rs10205851	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898777	0.80[YRI][hapmap]
rs12328471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13392128	0.85[YRI][hapmap]
rs13401618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401875	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404181	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408945	0.80[AFR][1000 genomes]
rs13417478	1.00[CEU][hapmap]
rs13417974	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17012646	1.00[MEX][hapmap];0.89[YRI][hapmap]
rs17012655	0.83[YRI][hapmap]
rs17012660	1.00[CEU][hapmap]
rs17012689	1.00[CEU][hapmap]
rs2290447	1.00[MEX][hapmap];0.89[YRI][hapmap]
rs58911278	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6543697	0.89[YRI][hapmap]
rs6708543	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6721333	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs6740275	1.00[MEX][hapmap]
rs6752708	1.00[CEU][hapmap]
rs6757287	0.89[YRI][hapmap]
rs72855734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72858006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72858011	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583435	0.89[YRI][hapmap]
rs7603774	0.89[YRI][hapmap]
rs9308932	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33408200-33423000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33410400-33423800	Weak transcription	Placenta	Placenta
5	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:33414000-33427800	Weak transcription	Right Ventricle	heart
7	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
8	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
9	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:33415200-33427600	Weak transcription	Left Ventricle	heart
11	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:33415600-33427000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:33415600-33431800	Weak transcription	NHDF-Ad	bronchial
15	chr2:33415600-33434200	Weak transcription	K562	blood
16	chr2:33415800-33431800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:33417400-33431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:33418200-33433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:33418400-33435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:33418800-33427000	Weak transcription	Ovary	ovary
21	chr2:33419000-33434200	Weak transcription	NH-A	brain
22	chr2:33419400-33427400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33419800-33427800	Weak transcription	Aorta	Aorta
24	chr2:33420000-33432000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:33420600-33423000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:33420800-33430400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:33421000-33426800	Weak transcription	Osteobl	bone
28	chr2:33421000-33427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:33421000-33427400	Weak transcription	NHLF	lung
30	chr2:33421200-33427200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:33422000-33423200	Enhancers	HepG2	liver
32	chr2:33422400-33423000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:33422600-33423000	Flanking Active TSS	Liver	Liver
34	chr2:33422600-33423000	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:33422800-33423000	Enhancers	Pancreas	Pancrea
36	chr2:33422800-33423000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:33422800-33427000	Weak transcription	Fetal Heart	heart

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