Variant report

Variant	rs142344250
Chromosome Location	chr8:122174679-122174680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122174198..122176101-chr8:122438175..122440772,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2752471	chr8:122173682-122174849	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1021839	chr8:122173682-122240824	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122167800-122176200	Weak transcription	Stomach Mucosa	stomach
2	chr8:122168000-122175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:122168000-122175800	Weak transcription	HepG2	liver
4	chr8:122168000-122176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:122168400-122175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:122168400-122176200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:122170200-122175800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:122171000-122176400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:122171600-122174800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:122173200-122174800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:122173200-122177200	Enhancers	NHDF-Ad	bronchial
12	chr8:122173600-122175400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:122174000-122175800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:122174000-122175800	Enhancers	HSMM	muscle
15	chr8:122174200-122174800	Enhancers	NHLF	lung
16	chr8:122174200-122175200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:122174200-122176000	Enhancers	Hela-S3	cervix
18	chr8:122174200-122177200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:122174200-122177800	Enhancers	HMEC	breast
20	chr8:122174400-122175000	Enhancers	NHEK	skin
21	chr8:122174400-122175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:122174400-122175800	Enhancers	Osteobl	bone
23	chr8:122174400-122176000	Enhancers	A549	lung
24	chr8:122174400-122177400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:122174400-122177800	Enhancers	NH-A	brain
26	chr8:122174400-122178800	Enhancers	Fetal Lung	lung
27	chr8:122174600-122174800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:122174600-122174800	Enhancers	HUVEC	blood vessel
29	chr8:122174600-122175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:122174600-122175800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:122174600-122176200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:122174600-122176800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:122174600-122176800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:122174600-122176800	Enhancers	Fetal Intestine Large	intestine
35	chr8:122174600-122177600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:122174600-122177800	Enhancers	HSMMtube	muscle

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