Variant report

Variant	rs10048782
Chromosome Location	chr2:33434957-33434958
allele	G/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:
2	chr2:33433433..33434972-chr2:33439448..33441761,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10166821	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10179329	1.00[AMR][1000 genomes]
rs10184897	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10189539	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192129	1.00[AMR][1000 genomes]
rs10192944	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10202001	1.00[AMR][1000 genomes]
rs10211394	1.00[AMR][1000 genomes]
rs13398513	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13402045	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59286165	1.00[AMR][1000 genomes]
rs6543702	1.00[AMR][1000 genomes]
rs6727534	1.00[AMR][1000 genomes]
rs6729956	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6740275	1.00[AMR][1000 genomes]
rs6742773	1.00[AMR][1000 genomes]
rs6745742	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6758391	1.00[AMR][1000 genomes]
rs72855789	1.00[AMR][1000 genomes]
rs9308933	0.83[YRI][hapmap];1.00[AMR][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:49 , 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	chr2:33414600-33455400	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	chr2:33418400-33435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
9	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:33426600-33435000	Weak transcription	Gastric	stomach
11	chr2:33428000-33435200	Weak transcription	Ovary	ovary
12	chr2:33428000-33437000	Weak transcription	Liver	Liver
13	chr2:33428600-33439200	Weak transcription	Right Atrium	heart
14	chr2:33431200-33436400	Weak transcription	Aorta	Aorta
15	chr2:33431800-33436600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:33431800-33439000	Enhancers	NHDF-Ad	bronchial
17	chr2:33432200-33435000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:33432600-33435400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:33432600-33436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:33432800-33436400	Weak transcription	HSMMtube	muscle
21	chr2:33433000-33435000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:33433000-33435600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:33433000-33435800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:33433200-33435000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:33433600-33435200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:33433800-33435200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:33433800-33436400	Weak transcription	Left Ventricle	heart
28	chr2:33434000-33436200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:33434200-33437400	Enhancers	NH-A	brain
30	chr2:33434200-33438200	Enhancers	K562	blood
31	chr2:33434200-33439400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:33434200-33442200	Enhancers	HUVEC	blood vessel
33	chr2:33434400-33435600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:33434400-33435600	Enhancers	NHLF	lung
35	chr2:33434400-33437000	Enhancers	A549	lung
36	chr2:33434400-33437000	Enhancers	Osteobl	bone
37	chr2:33434600-33436200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:33434600-33439400	Weak transcription	Lung	lung
39	chr2:33434600-33439400	Weak transcription	Right Ventricle	heart
40	chr2:33434800-33435000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:33434800-33435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:33434800-33435800	Enhancers	Fetal Heart	heart
43	chr2:33434800-33436600	Enhancers	HSMM	muscle
44	chr2:33434800-33436800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:33434800-33437000	Weak transcription	HepG2	liver
46	chr2:33434800-33437600	Enhancers	NHEK	skin
47	chr2:33434800-33437800	Enhancers	Stomach Mucosa	stomach
48	chr2:33434800-33437800	Enhancers	HMEC	breast
49	chr2:33434800-33438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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