Variant report

Variant	rs10486797
Chromosome Location	chr7:39650367-39650368
allele	C/T
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	EP300	chr7:39647430-39650405	SK-N-SH	brain:	n/a	chr7:39648095-39648109 chr7:39648066-39648080 chr7:39648065-39648079

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39649814..39652615-chr7:39661583..39664092,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YAE1D1-1	chr7:39649086-39651687	NONHSAT120210

Variant related genes	Relation type
ENSG00000231951	TF binding region
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16880073	0.89[AMR][1000 genomes]
rs17713095	1.00[YRI][hapmap]
rs17713107	1.00[YRI][hapmap]
rs4236362	0.94[AMR][1000 genomes]
rs4374892	0.94[AMR][1000 genomes]
rs4723886	0.89[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39645200-39661600	Weak transcription	A549	lung
2	chr7:39648400-39651800	Flanking Active TSS	HUVEC	blood vessel
3	chr7:39648800-39656000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:39649400-39652800	Weak transcription	Osteobl	bone
5	chr7:39649400-39654600	Weak transcription	Pancreas	Pancrea
6	chr7:39649600-39653400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:39649600-39655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:39649600-39655600	Weak transcription	HSMMtube	muscle
9	chr7:39649800-39650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:39649800-39650400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:39649800-39650400	Enhancers	Fetal Kidney	kidney
12	chr7:39649800-39651000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:39649800-39651200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:39649800-39651200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:39649800-39651400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:39649800-39653600	Weak transcription	HSMM	muscle
17	chr7:39649800-39655000	Weak transcription	Hela-S3	cervix
18	chr7:39649800-39655200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:39649800-39655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:39649800-39655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:39650000-39650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:39650000-39650400	Enhancers	NHEK	skin
23	chr7:39650000-39651800	Weak transcription	Gastric	stomach
24	chr7:39650000-39652600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:39650000-39653200	Weak transcription	NHDF-Ad	bronchial
26	chr7:39650000-39653400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:39650000-39653400	Weak transcription	NH-A	brain
28	chr7:39650000-39653600	Weak transcription	K562	blood
29	chr7:39650000-39654800	Weak transcription	Stomach Mucosa	stomach
30	chr7:39650000-39655000	Weak transcription	NHLF	lung
31	chr7:39650200-39651800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:39650200-39655400	Weak transcription	HMEC	breast

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