Variant report

Variant	rs534521031
Chromosome Location	chr1:210438745-210438746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210424408..210427087-chr1:210436244..210439135,3	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv945274	chr1:210438114-210440537	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210428200-210439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:210430600-210439200	Enhancers	Fetal Stomach	stomach
3	chr1:210430800-210439600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:210433600-210439400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:210433800-210440200	Enhancers	NHDF-Ad	bronchial
6	chr1:210433800-210445400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:210434400-210439600	Enhancers	Colon Smooth Muscle	Colon
8	chr1:210434600-210439000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:210435000-210438800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:210435000-210439200	Enhancers	HSMMtube	muscle
11	chr1:210436400-210445800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:210436600-210439200	Enhancers	NH-A	brain
13	chr1:210436600-210439400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:210436600-210439400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:210436600-210439400	Enhancers	Osteobl	bone
16	chr1:210436800-210439000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:210436800-210439600	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:210437200-210438800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:210437200-210439600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:210437200-210439600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:210437600-210439000	Enhancers	HSMM	muscle
22	chr1:210437600-210439600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:210437800-210439000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:210437800-210440200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:210437800-210440400	Enhancers	Placenta	Placenta
26	chr1:210438000-210439000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:210438000-210439000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:210438000-210439600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:210438000-210439600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:210438200-210438800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:210438200-210438800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:210438200-210439000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:210438200-210439400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr1:210438200-210439600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:210438400-210439000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:210438400-210439200	Enhancers	A549	lung
37	chr1:210438400-210439400	Enhancers	HepG2	liver
38	chr1:210438600-210438800	Flanking Active TSS	Fetal Heart	heart
39	chr1:210438600-210439200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:210438600-210443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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