Variant report

Variant	rs12275514
Chromosome Location	chr11:64207039-64207040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64206783..64209244-chr11:64213873..64216195,3	K562	blood:
2	chr11:64206984..64209864-chr11:64258873..64261595,2	K562	blood:
3	chr11:64200342..64202053-chr11:64206735..64208236,2	MCF-7	breast:
4	chr11:64201475..64203766-chr11:64205338..64208050,2	K562	blood:
5	chr11:64202762..64205386-chr11:64205470..64207937,2	MCF-7	breast:
6	chr11:64205773..64209178-chr11:64214928..64217855,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181908	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10219174	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10501395	0.82[AFR][1000 genomes]
rs11823402	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12269866	1.00[EUR][1000 genomes]
rs12271728	1.00[EUR][1000 genomes]
rs12278771	1.00[EUR][1000 genomes]
rs12280878	1.00[EUR][1000 genomes]
rs558073	1.00[EUR][1000 genomes]
rs56768513	1.00[EUR][1000 genomes]
rs71526475	1.00[EUR][1000 genomes]
rs71579878	1.00[EUR][1000 genomes]
rs71581770	1.00[EUR][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	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv976459	chr11:64183936-64208134	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr11:64203400-64207200	Enhancers	HMEC	breast
2	chr11:64203600-64208400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:64203800-64208400	Enhancers	Placenta	Placenta
4	chr11:64204200-64208600	Weak transcription	Fetal Brain Female	brain
5	chr11:64204600-64208400	Weak transcription	Fetal Brain Male	brain
6	chr11:64204800-64210000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:64205400-64208200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:64205600-64209000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:64206000-64207200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:64206000-64207200	Enhancers	Adipose Nuclei	Adipose
11	chr11:64206000-64207200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:64206200-64207200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr11:64206400-64207200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr11:64206400-64207200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:64206400-64207200	Bivalent Enhancer	NHEK	skin
16	chr11:64206400-64207800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:64206600-64207200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:64206600-64207200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:64206600-64207200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr11:64206800-64207200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr11:64206800-64207200	Bivalent Enhancer	HSMMtube	muscle
22	chr11:64206800-64208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:64206800-64208000	Enhancers	GM12878-XiMat	blood
24	chr11:64207000-64207200	Enhancers	Primary B cells from cord blood	blood
25	chr11:64207000-64207200	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:64207000-64207200	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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