Variant report

Variant	rs544213396
Chromosome Location	chr1:197751436-197751437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197748060..197749857-chr1:197751111..197752675,2	MCF-7	breast:
2	chr1:197750889..197753652-chr1:197755989..197758239,2	MCF-7	breast:
3	chr1:197743492..197747325-chr1:197751420..197754728,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv947369	chr1:197750549-197778118	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197745200-197752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:197745200-197756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:197745400-197752000	Weak transcription	Esophagus	oesophagus
4	chr1:197748200-197751800	Weak transcription	GM12878-XiMat	blood
5	chr1:197748400-197751600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:197750600-197752800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:197750600-197753200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:197750600-197753600	Enhancers	NHEK	skin
9	chr1:197750800-197752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:197750800-197753600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:197751000-197751600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:197751000-197751800	Enhancers	K562	blood
13	chr1:197751000-197752400	Enhancers	NHLF	lung
14	chr1:197751000-197752600	Enhancers	Stomach Mucosa	stomach
15	chr1:197751000-197753000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:197751000-197753400	Enhancers	NHDF-Ad	bronchial
17	chr1:197751000-197753400	Enhancers	Osteobl	bone
18	chr1:197751000-197753600	Enhancers	Fetal Intestine Large	intestine
19	chr1:197751200-197751600	Enhancers	Hela-S3	cervix
20	chr1:197751200-197752800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:197751200-197753200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:197751200-197753200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:197751200-197753200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:197751200-197753200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:197751200-197753600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:197751200-197753600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:197751200-197753600	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:197751200-197753600	Enhancers	Fetal Intestine Small	intestine
29	chr1:197751200-197753600	Enhancers	Small Intestine	intestine
30	chr1:197751200-197753600	Enhancers	HMEC	breast
31	chr1:197751200-197753800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:197751400-197752000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr1:197751400-197752000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:197751400-197752200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:197751400-197752600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:197751400-197753400	Weak transcription	Colonic Mucosa	Colon
37	chr1:197751400-197753600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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