Variant report

Variant	rs60137137
Chromosome Location	chr11:119993576-119993577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr11:119991916-119993952	Hela-S3	cervix:	n/a	chr11:119993842-119993851 chr11:119993841-119993850
2	POLR2A	chr11:119991787-119995121	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:119991838-119994802	Hela-S3	cervix:	n/a	n/a
4	SMARCC1	chr11:119991833-119996186	Hela-S3	cervix:	n/a	chr11:119993842-119993851 chr11:119995853-119995862 chr11:119993841-119993850 chr11:119994713-119994722
5	POLR2A	chr11:119992885-119994362	Hela-S3	cervix:	n/a	n/a
6	ZKSCAN1	chr11:119992597-119993938	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr11:119992088-119993950	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:119993507-119994759	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:119990371..119993698-chr11:120037887..120041016,6	MCF-7	breast:
2	chr11:119992602..119994710-chr11:119998240..120000665,2	MCF-7	breast:
3	chr11:119988388..119990806-chr11:119992979..119995049,2	MCF-7	breast:
4	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
5	chr11:119992107..119994567-chr11:120009192..120013001,3	MCF-7	breast:
6	chr11:119992154..119994463-chr11:120170248..120173038,2	MCF-7	breast:
7	chr11:119598280..119601010-chr11:119990751..119994590,4	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000254854	Chromatin interaction
ENSG00000110400	Chromatin interaction
ENSG00000176984	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73575904	0.83[AFR][1000 genomes]
rs73575907	0.82[AFR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119987400-119994400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:119991200-119996600	Enhancers	Placenta	Placenta
3	chr11:119991200-119997000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:119991200-119999000	Genic enhancers	HMEC	breast
5	chr11:119991400-119994200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr11:119991400-119996000	Enhancers	Stomach Mucosa	stomach
7	chr11:119992200-119993800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:119992200-119994200	Weak transcription	Spleen	Spleen
9	chr11:119992200-119994800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:119992400-119993600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:119992400-119993800	Enhancers	Pancreas	Pancrea
12	chr11:119992600-119994600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:119993000-119993600	Bivalent Enhancer	HepG2	liver
14	chr11:119993000-119993600	Transcr. at gene 5' and 3'	NHEK	skin
15	chr11:119993000-119993800	Transcr. at gene 5' and 3'	Esophagus	oesophagus
16	chr11:119993000-119994400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:119993000-119994600	Enhancers	Fetal Intestine Large	intestine
18	chr11:119993200-119994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:119993200-119995200	Flanking Active TSS	Hela-S3	cervix
20	chr11:119993400-119998800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:119993400-119998800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:119993400-119999800	Weak transcription	Fetal Thymus	thymus
23	chr11:119993400-120000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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