Variant report

Variant	rs10084248
Chromosome Location	chr2:33435067-33435068
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33428794..33433443-chr2:33434852..33438418,7	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10048733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10048778	0.89[YRI][hapmap]
rs10167324	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10167399	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10170803	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs10170980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10173416	0.89[ASN][1000 genomes]
rs10189948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201015	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201397	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201412	0.83[YRI][hapmap]
rs10201620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10205515	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205851	0.95[YRI][hapmap]
rs10514773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11675702	0.89[ASN][1000 genomes]
rs11686962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11691887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11692723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11886226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11886337	1.00[ASN][1000 genomes]
rs11898777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13387581	0.94[YRI][hapmap]
rs13392128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13401618	0.80[AFR][1000 genomes]
rs13408945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13417478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13417974	0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13431080	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17012612	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17012655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2004437	0.85[ASN][1000 genomes]
rs2290427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2290447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769546	1.00[JPT][hapmap]
rs4578839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4641915	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs55852365	0.85[ASN][1000 genomes]
rs57095191	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57119251	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57408328	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60523332	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60912788	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61609498	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61754245	0.89[ASN][1000 genomes]
rs6543693	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543694	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543695	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6543697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6706122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718325	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6721333	0.95[YRI][hapmap]
rs6722904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6728561	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6730109	0.94[ASN][1000 genomes]
rs6730341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6734291	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746796	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6752708	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6757287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6757381	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6760864	0.89[ASN][1000 genomes]
rs72855723	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72855746	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72855774	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72855787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858037	0.92[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];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7583435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7603774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7606937	1.00[ASN][1000 genomes]
rs9308932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964701	1.00[CHB][hapmap];1.00[JPT][hapmap];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:51 , 50 per page) page: 1 2

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	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
5	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
8	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:33428000-33435200	Weak transcription	Ovary	ovary
10	chr2:33428000-33437000	Weak transcription	Liver	Liver
11	chr2:33428600-33439200	Weak transcription	Right Atrium	heart
12	chr2:33431200-33436400	Weak transcription	Aorta	Aorta
13	chr2:33431800-33436600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:33431800-33439000	Enhancers	NHDF-Ad	bronchial
15	chr2:33432600-33435400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:33432600-33436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:33432800-33436400	Weak transcription	HSMMtube	muscle
18	chr2:33433000-33435600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:33433000-33435800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:33433600-33435200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:33433800-33435200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:33433800-33436400	Weak transcription	Left Ventricle	heart
23	chr2:33434000-33436200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:33434200-33437400	Enhancers	NH-A	brain
25	chr2:33434200-33438200	Enhancers	K562	blood
26	chr2:33434200-33439400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:33434200-33442200	Enhancers	HUVEC	blood vessel
28	chr2:33434400-33435600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:33434400-33435600	Enhancers	NHLF	lung
30	chr2:33434400-33437000	Enhancers	A549	lung
31	chr2:33434400-33437000	Enhancers	Osteobl	bone
32	chr2:33434600-33436200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:33434600-33439400	Weak transcription	Lung	lung
34	chr2:33434600-33439400	Weak transcription	Right Ventricle	heart
35	chr2:33434800-33435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:33434800-33435800	Enhancers	Fetal Heart	heart
37	chr2:33434800-33436600	Enhancers	HSMM	muscle
38	chr2:33434800-33436800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:33434800-33437000	Weak transcription	HepG2	liver
40	chr2:33434800-33437600	Enhancers	NHEK	skin
41	chr2:33434800-33437800	Enhancers	Stomach Mucosa	stomach
42	chr2:33434800-33437800	Enhancers	HMEC	breast
43	chr2:33434800-33438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:33435000-33435200	Enhancers	Gastric	stomach
45	chr2:33435000-33436000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:33435000-33436200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:33435000-33436600	Enhancers	Colon Smooth Muscle	Colon
48	chr2:33435000-33436800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:33435000-33437800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:33435000-33439000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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