Variant report

Variant	rs11981716
Chromosome Location	chr7:39658279-39658280
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	POLR2A	chr7:39657662-39658809	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:39657518-39659619	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:39657852-39659679	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:39657726-39663410	K562	blood:	n/a	n/a
5	CCNT2	chr7:39658235-39658431	K562	blood:	n/a	n/a
6	POLR2A	chr7:39657685-39659936	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39650565..39652654-chr7:39656669..39659606,2	MCF-7	breast:
2	chr7:39608428..39611023-chr7:39657174..39659253,2	MCF-7	breast:
3	chr7:39655737..39658310-chr7:39659914..39661763,2	MCF-7	breast:
4	chr7:39656910..39659711-chr7:39773116..39775351,2	MCF-7	breast:

Variant related genes	Relation type
RALA	TF binding region
ENSG00000241127	Chromatin interaction
ENSG00000236015	Chromatin interaction
ENSG00000188185	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11973533	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11973777	1.00[AMR][1000 genomes]
rs11976079	1.00[AMR][1000 genomes]
rs11976400	1.00[AMR][1000 genomes]
rs11976444	0.92[AFR][1000 genomes]
rs11979241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11982125	0.88[AFR][1000 genomes]
rs11982738	1.00[AMR][1000 genomes]
rs11982740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57551664	1.00[AMR][1000 genomes]
rs57770125	0.82[AFR][1000 genomes]
rs59463295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59829073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59987676	0.92[AFR][1000 genomes]
rs61239015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385786	1.00[AMR][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	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39645200-39661600	Weak transcription	A549	lung
2	chr7:39655200-39661800	Weak transcription	Pancreas	Pancrea
3	chr7:39655600-39660400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:39655800-39661000	Weak transcription	K562	blood
5	chr7:39656000-39659400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:39656200-39659800	Weak transcription	HSMMtube	muscle
7	chr7:39656200-39660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:39656600-39659200	Weak transcription	NHLF	lung
9	chr7:39656600-39659400	Weak transcription	HSMM	muscle
10	chr7:39656600-39659400	Weak transcription	NHEK	skin
11	chr7:39656600-39659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:39656600-39660400	Weak transcription	NH-A	brain
13	chr7:39656600-39661000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:39656600-39661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:39656600-39661800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:39656800-39659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:39657000-39659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:39657000-39659600	Weak transcription	HMEC	breast
19	chr7:39657000-39659800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:39657000-39659800	Weak transcription	NHDF-Ad	bronchial
21	chr7:39657000-39659800	Weak transcription	Osteobl	bone
22	chr7:39657000-39660000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:39657000-39662200	Weak transcription	HUVEC	blood vessel
24	chr7:39657200-39659600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:39657200-39661000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:39657800-39658600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:39658000-39662400	Weak transcription	Esophagus	oesophagus

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