Variant report

Variant	rs58988512
Chromosome Location	chr2:189330407-189330408
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189329502..189332485-chr2:189340700..189342982,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57280605	0.95[AFR][1000 genomes]
rs58313554	1.00[AFR][1000 genomes]
rs58571834	0.83[AFR][1000 genomes]
rs59306210	1.00[AFR][1000 genomes]
rs60584308	1.00[AFR][1000 genomes]
rs61616655	1.00[AFR][1000 genomes]
rs6710263	0.83[AFR][1000 genomes]
rs6722581	0.95[AFR][1000 genomes]
rs7566545	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 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	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:189321800-189339000	Weak transcription	Fetal Stomach	stomach
4	chr2:189326600-189330800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:189327000-189330800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:189328400-189334000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:189328800-189330600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:189329000-189330600	Enhancers	Gastric	stomach
9	chr2:189329000-189330800	Enhancers	Pancreas	Pancrea
10	chr2:189329000-189340600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:189329200-189330600	Enhancers	Lung	lung
12	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:189329400-189330600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:189329400-189331000	Enhancers	Ovary	ovary
15	chr2:189329800-189333200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:189330000-189330600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:189330000-189330800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:189330000-189331800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:189330000-189332800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:189330200-189330600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:189330200-189330600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr2:189330400-189330600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:189330400-189330600	Enhancers	Psoas Muscle	Psoas
24	chr2:189330400-189330800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:189330400-189330800	Enhancers	Right Atrium	heart

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