Variant report

Variant	rs542270318
Chromosome Location	chr2:127771979-127771980
allele	A/C
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	MAFK	chr2:127771971-127772960	IMR90	lung:	n/a	n/a
2	CTCF	chr2:127771920-127772070	NHLF	lung:	n/a	n/a
3	POLR2A	chr2:127771024-127773176	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127770472..127772190-chr2:127775592..127777770,2	K562	blood:
2	chr2:127765380..127766934-chr2:127771705..127773507,2	K562	blood:

Variant related genes	Relation type
RNU7-182P	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127768800-127773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:127769000-127773600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:127769000-127773600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:127769000-127775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:127769200-127772000	Weak transcription	HSMM	muscle
6	chr2:127769200-127773400	Enhancers	NHEK	skin
7	chr2:127769400-127773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:127770000-127772000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:127770400-127772400	Bivalent Enhancer	HepG2	liver
10	chr2:127770400-127773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:127770600-127773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:127770600-127773200	Enhancers	HMEC	breast
13	chr2:127770800-127773800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:127771000-127773400	Enhancers	NHDF-Ad	bronchial
15	chr2:127771400-127773400	Enhancers	NHLF	lung
16	chr2:127771600-127772200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:127771600-127772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:127771600-127773400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:127771600-127773600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:127771800-127772000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:127771800-127772200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:127771800-127772200	Weak transcription	Right Atrium	heart
23	chr2:127771800-127772600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:127771800-127773000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:127771800-127773200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:127771800-127773200	Enhancers	NH-A	brain
27	chr2:127771800-127773400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:127771800-127773400	Enhancers	Osteobl	bone
29	chr2:127771800-127776600	Weak transcription	Fetal Intestine Small	intestine

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