Variant report

Variant	rs1857967
Chromosome Location	chr1:209561252-209561253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209538239..209540335-chr1:209559472..209561618,2	MCF-7	breast:
2	chr1:209555303..209558478-chr1:209558595..209562675,4	MCF-7	breast:
3	chr1:209561204..209563175-chr1:209596060..209597812,2	MCF-7	breast:
4	chr1:209554903..209565803-chr1:209600283..209609508,22	MCF-7	breast:
5	chr1:209560392..209562273-chr1:209582844..209585455,2	MCF-7	breast:
6	chr1:209556562..209561769-chr1:209603992..209608152,7	MCF-7	breast:
7	chr1:209537992..209540217-chr1:209560334..209562277,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1006316	0.92[CHB][hapmap];0.94[MEX][hapmap]
rs1006317	0.92[CHB][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs11811038	0.89[CEU][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12135550	0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12140933	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12142844	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12142846	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1354850	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1354851	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1354852	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1354853	0.92[CHB][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs1507336	0.92[CHB][hapmap]
rs17014332	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17014337	0.92[CHB][hapmap]
rs17014370	0.92[CHB][hapmap];0.82[MEX][hapmap]
rs17014375	0.92[CHB][hapmap]
rs17014395	0.92[CHB][hapmap]
rs17014396	0.92[CHB][hapmap];0.88[MEX][hapmap]
rs1986792	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4844473	0.80[AFR][1000 genomes]
rs4844815	0.84[CHB][hapmap]
rs55717527	0.82[EUR][1000 genomes]
rs6667906	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7516864	0.84[CHB][hapmap]

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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209553200-209568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:209555600-209564400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:209555800-209565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:209557200-209561600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:209557800-209565200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:209558000-209562000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:209558000-209566200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:209558200-209564400	Enhancers	HMEC	breast
9	chr1:209558400-209564400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:209559400-209565200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:209559400-209566000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:209560000-209563000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:209560200-209561600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:209560400-209561600	Flanking Active TSS	NHEK	skin
15	chr1:209560400-209563600	Enhancers	HSMM	muscle
16	chr1:209560600-209561600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:209560600-209562400	Enhancers	Hela-S3	cervix
18	chr1:209560600-209562600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:209560600-209563600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:209560800-209561400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:209560800-209561600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:209560800-209562400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:209560800-209563000	Enhancers	HSMMtube	muscle
24	chr1:209560800-209563200	Enhancers	Esophagus	oesophagus
25	chr1:209560800-209563400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:209560800-209563400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:209560800-209563400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:209560800-209563400	Enhancers	Osteobl	bone
29	chr1:209560800-209563600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:209560800-209563600	Enhancers	NH-A	brain
31	chr1:209560800-209563600	Enhancers	NHLF	lung
32	chr1:209560800-209565000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:209560800-209565600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:209561000-209563400	Enhancers	A549	lung
35	chr1:209561000-209565000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:209561000-209565400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:209561000-209571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:209561200-209564200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:209561200-209567400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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