Variant report

Variant	rs16828282
Chromosome Location	chr2:148888925-148888926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11889600	1.00[AFR][1000 genomes]
rs11890873	1.00[AFR][1000 genomes]
rs11890992	1.00[AFR][1000 genomes]
rs11893036	1.00[AFR][1000 genomes]
rs11893064	1.00[AFR][1000 genomes]
rs11893214	0.92[AFR][1000 genomes]
rs11895063	1.00[AFR][1000 genomes]
rs11896415	1.00[AFR][1000 genomes]
rs11897066	1.00[AFR][1000 genomes]
rs11897102	1.00[AFR][1000 genomes]
rs11897174	1.00[AFR][1000 genomes]
rs11897510	1.00[AFR][1000 genomes]
rs11900225	1.00[AFR][1000 genomes]
rs11901857	1.00[AFR][1000 genomes]
rs11902579	0.83[AFR][1000 genomes]
rs16828153	0.88[AFR][1000 genomes]
rs16828168	0.88[AFR][1000 genomes]
rs16828203	1.00[AFR][1000 genomes]
rs16828224	0.96[AFR][1000 genomes]
rs16828247	1.00[AFR][1000 genomes]
rs16828258	1.00[AFR][1000 genomes]
rs16828267	1.00[AFR][1000 genomes]
rs16828285	1.00[AFR][1000 genomes]
rs16828326	1.00[AFR][1000 genomes]
rs16828336	1.00[AFR][1000 genomes]
rs16828345	1.00[AFR][1000 genomes]
rs16828347	1.00[AFR][1000 genomes]
rs16828356	1.00[AFR][1000 genomes]
rs16828367	1.00[AFR][1000 genomes]
rs16828385	1.00[AFR][1000 genomes]
rs16828407	1.00[AFR][1000 genomes]
rs17218861	0.88[AFR][1000 genomes]
rs17225193	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs35159623	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv999952	chr2:148884787-148938697	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148855800-148901000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:148861200-148889000	Weak transcription	Aorta	Aorta
3	chr2:148876600-148895000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:148877400-148901200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:148880400-148889600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:148880800-148900400	Weak transcription	HSMM	muscle
7	chr2:148881800-148895000	Weak transcription	Left Ventricle	heart
8	chr2:148882200-148889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:148882200-148893400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:148882200-148905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:148882400-148890000	Weak transcription	NHEK	skin
12	chr2:148887600-148889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:148888000-148890000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:148888200-148889600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:148888400-148889400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:148888400-148889600	Weak transcription	NHDF-Ad	bronchial
17	chr2:148888600-148889000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:148888600-148889400	Weak transcription	Osteobl	bone
19	chr2:148888600-148889600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:148888800-148889200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:148888800-148889200	Weak transcription	NHLF	lung
22	chr2:148888800-148890000	Weak transcription	Fetal Lung	lung
23	chr2:148888800-148890000	Enhancers	A549	lung

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