Variant report

Variant	rs2055698
Chromosome Location	chr1:209548546-209548547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209538296..209539816-chr1:209546804..209548572,2	MCF-7	breast:
2	chr1:209547762..209552825-chr1:209601391..209605097,6	MCF-7	breast:
3	chr1:209547752..209549329-chr1:209603815..209605769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1014817	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10494922	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10494924	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11586524	0.85[EUR][1000 genomes]
rs1395748	0.85[EUR][1000 genomes]
rs17014326	0.89[EUR][1000 genomes]
rs1857966	0.91[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1876409	0.85[EUR][1000 genomes]
rs2246571	0.83[EUR][1000 genomes]
rs2247066	0.84[EUR][1000 genomes]
rs2254757	0.84[EUR][1000 genomes]
rs2356722	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2660634	0.85[EUR][1000 genomes]
rs2660638	0.85[EUR][1000 genomes]
rs2660641	0.86[EUR][1000 genomes]
rs2800929	0.86[EUR][1000 genomes]
rs2843167	0.86[EUR][1000 genomes]
rs6661759	0.81[ASN][1000 genomes]
rs6674103	0.82[ASN][1000 genomes]
rs6674309	0.81[ASN][1000 genomes]
rs6685289	0.82[ASN][1000 genomes]
rs6685498	0.82[ASN][1000 genomes]
rs906347	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs906348	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs906349	0.82[ASN][1000 genomes]
rs906350	0.82[ASN][1000 genomes]
rs906351	0.80[JPT][hapmap];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209535800-209550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:209536800-209548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:209537600-209548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:209540400-209549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:209541200-209548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:209542400-209548800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:209542600-209549200	Weak transcription	A549	lung
8	chr1:209543200-209548600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:209543200-209548800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:209543600-209548600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:209544000-209549000	Weak transcription	Fetal Lung	lung
12	chr1:209544400-209550200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:209544600-209548600	Weak transcription	Fetal Brain Female	brain
14	chr1:209545600-209548800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:209545600-209548800	Weak transcription	Fetal Brain Male	brain
16	chr1:209546600-209552800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:209546800-209550600	Enhancers	NHEK	skin
18	chr1:209547200-209549400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:209547400-209548600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:209547400-209556000	Weak transcription	Esophagus	oesophagus
21	chr1:209548000-209548800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:209548000-209550200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:209548400-209548800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:209548400-209549600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:209548400-209549600	Enhancers	NHLF	lung
26	chr1:209548400-209550000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:209548400-209550000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:209548400-209550000	Enhancers	Hela-S3	cervix
29	chr1:209548400-209550000	Enhancers	Osteobl	bone
30	chr1:209548400-209550200	Enhancers	HMEC	breast

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