Variant report

Variant	rs73040470
Chromosome Location	chr2:189319753-189319754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs73036454	1.00[AMR][1000 genomes]
rs73040414	1.00[AMR][1000 genomes]
rs73040474	1.00[AMR][1000 genomes]
rs73040477	1.00[AMR][1000 genomes]
rs73040488	1.00[AMR][1000 genomes]
rs73040495	1.00[AMR][1000 genomes]
rs73042403	1.00[AMR][1000 genomes]
rs73042416	1.00[AMR][1000 genomes]
rs73042422	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189306600-189339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189307400-189322400	Weak transcription	A549	lung
3	chr2:189314600-189323400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:189315800-189320200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:189316000-189324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:189316600-189320200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr2:189317000-189320200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr2:189317000-189321000	Weak transcription	Fetal Stomach	stomach
9	chr2:189317200-189324000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr2:189317400-189319800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:189317600-189329400	Weak transcription	Ovary	ovary
12	chr2:189318200-189319800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:189318200-189320400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr2:189318400-189319800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr2:189318400-189320000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:189318600-189319800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr2:189318600-189320000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr2:189319000-189321000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:189319200-189321000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:189319200-189325600	Weak transcription	Fetal Lung	lung
21	chr2:189319200-189327000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:189319400-189320000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:189319400-189321000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:189319400-189322800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:189319600-189320000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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