Variant report

Variant	rs10205515
Chromosome Location	chr2:33431668-33431669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33430736..33432934-chr2:33471410..33474169,2	MCF-7	breast:
2	chr2:33428794..33433443-chr2:33434852..33438418,7	K562	blood:
3	chr2:33428794..33431887-chr2:33435425..33437585,4	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10048733	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084248	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167324	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10167399	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10170980	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10173416	0.89[ASN][1000 genomes]
rs10189948	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10195782	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201015	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201397	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201620	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10204479	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10205851	0.80[AFR][1000 genomes]
rs10514773	0.89[ASN][1000 genomes]
rs11675702	0.89[ASN][1000 genomes]
rs11686962	0.89[ASN][1000 genomes]
rs11691887	0.89[ASN][1000 genomes]
rs11692723	0.85[ASN][1000 genomes]
rs11886226	0.89[ASN][1000 genomes]
rs11886337	1.00[ASN][1000 genomes]
rs11898777	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13392128	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13401618	0.80[AFR][1000 genomes]
rs13408945	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13417478	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13417974	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13431080	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17012612	0.94[ASN][1000 genomes]
rs17012615	0.94[ASN][1000 genomes]
rs17012621	0.94[ASN][1000 genomes]
rs17012646	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17012655	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012657	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012674	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012680	0.94[ASN][1000 genomes]
rs17012691	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012720	0.85[ASN][1000 genomes]
rs17012778	0.80[ASN][1000 genomes]
rs2004437	0.85[ASN][1000 genomes]
rs2290427	0.85[ASN][1000 genomes]
rs2290447	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4578839	0.94[ASN][1000 genomes]
rs4641915	0.94[ASN][1000 genomes]
rs55852365	0.85[ASN][1000 genomes]
rs57095191	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57119251	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57408328	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60523332	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60912788	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61609498	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61754245	0.89[ASN][1000 genomes]
rs6543693	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543694	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543695	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543696	0.94[ASN][1000 genomes]
rs6543697	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6706122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718325	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6722904	0.89[ASN][1000 genomes]
rs6728561	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6730109	0.94[ASN][1000 genomes]
rs6730341	0.94[ASN][1000 genomes]
rs6734291	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746796	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6752708	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6757287	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6757381	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6760864	0.89[ASN][1000 genomes]
rs72855723	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72855746	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72855774	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72855787	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858037	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858071	0.89[ASN][1000 genomes]
rs72858072	0.89[ASN][1000 genomes]
rs73927364	0.85[ASN][1000 genomes]
rs7568506	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7583435	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7603774	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7606937	1.00[ASN][1000 genomes]
rs9308932	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs964701	1.00[ASN][1000 genomes]

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	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
5	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
6	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:33415600-33431800	Weak transcription	NHDF-Ad	bronchial
10	chr2:33415600-33434200	Weak transcription	K562	blood
11	chr2:33415800-33431800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:33417400-33431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:33418200-33433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:33418400-33435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:33419000-33434200	Weak transcription	NH-A	brain
16	chr2:33420000-33432000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
18	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:33426600-33435000	Weak transcription	Gastric	stomach
20	chr2:33427400-33432200	Weak transcription	Fetal Lung	lung
21	chr2:33427600-33431800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:33428000-33435200	Weak transcription	Ovary	ovary
23	chr2:33428000-33437000	Weak transcription	Liver	Liver
24	chr2:33428200-33432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:33428200-33432200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:33428400-33433400	Weak transcription	Left Ventricle	heart
27	chr2:33428600-33434400	Weak transcription	Right Ventricle	heart
28	chr2:33428600-33439200	Weak transcription	Right Atrium	heart
29	chr2:33429000-33432000	Weak transcription	Osteobl	bone
30	chr2:33430400-33432200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:33430600-33432200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:33430800-33432400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:33431000-33431800	Enhancers	GM12878-XiMat	blood
34	chr2:33431000-33432200	Weak transcription	Fetal Heart	heart
35	chr2:33431200-33436400	Weak transcription	Aorta	Aorta
36	chr2:33431400-33431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:33431400-33434400	Weak transcription	NHLF	lung

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