Variant report

Variant	rs16829259
Chromosome Location	chr2:233420421-233420422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233398083..233399596-chr2:233418579..233421023,2	MCF-7	breast:
2	chr2:233419375..233421317-chr2:233425447..233426958,2	MCF-7	breast:
3	chr2:233419229..233422052-chr2:233423051..233425158,2	MCF-7	breast:
4	chr2:233419672..233423709-chr2:233425447..233428856,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3791715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491758	chr2:232756751-233517015	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv821918	chr2:233183773-233425675	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv875998	chr2:233268715-233428275	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv876000	chr2:233303133-233533202	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv876005	chr2:233340715-233428275	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv3212	chr2:233390930-233428822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv876008	chr2:233416612-233505522	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233416200-233440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:233416400-233421200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233416400-233421400	Weak transcription	Ovary	ovary
4	chr2:233416400-233422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:233416600-233421000	Weak transcription	Fetal Lung	lung
6	chr2:233416600-233422000	Weak transcription	Esophagus	oesophagus
7	chr2:233416600-233423600	Weak transcription	Small Intestine	intestine
8	chr2:233416600-233429200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:233416600-233431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:233416800-233420600	Weak transcription	Colonic Mucosa	Colon
11	chr2:233416800-233420800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:233416800-233420800	Weak transcription	Placenta	Placenta
13	chr2:233416800-233420800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:233416800-233421000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:233416800-233421000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:233416800-233421000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:233416800-233421000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:233416800-233421000	Weak transcription	Pancreas	Pancrea
19	chr2:233416800-233421000	Weak transcription	Right Ventricle	heart
20	chr2:233416800-233421200	Weak transcription	Brain Germinal Matrix	brain
21	chr2:233416800-233421200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:233416800-233421400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:233416800-233421400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:233416800-233421400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:233416800-233421800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:233416800-233422000	Weak transcription	Fetal Heart	heart
27	chr2:233416800-233427400	Weak transcription	Fetal Brain Male	brain
28	chr2:233416800-233431800	Weak transcription	Stomach Mucosa	stomach
29	chr2:233416800-233432400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:233416800-233433800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:233416800-233434800	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:233416800-233438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:233416800-233440200	Strong transcription	Fetal Thymus	thymus
34	chr2:233416800-233440400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:233416800-233457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:233417000-233421000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:233417000-233421200	Weak transcription	HMEC	breast
38	chr2:233417000-233431800	Strong transcription	Osteobl	bone
39	chr2:233417000-233432000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:233417200-233421000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:233417200-233421000	Weak transcription	Spleen	Spleen
42	chr2:233417200-233421800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:233417200-233422000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:233417200-233432000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:233417200-233438800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:233417400-233421400	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:233417400-233423400	Strong transcription	A549	lung
48	chr2:233417400-233425000	Strong transcription	NHEK	skin
49	chr2:233417400-233440000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:233417600-233421000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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