Variant report

Variant	rs549125339
Chromosome Location	chr1:70381189-70381190
allele	C/G
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	TCF12	chr1:70380944-70381554	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:70380952-70381417	SK-N-MC	brain:	n/a	n/a
3	TCF12	chr1:70380922-70381393	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr1:70381026-70381488	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70356724..70359673-chr1:70379486..70382250,2	K562	blood:

Variant related genes	Relation type
PIN1P1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428466	chr1:70306638-70455357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv947491	chr1:70377933-70382966	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3382626	chr1:70380565-70383248	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3413294	chr1:70380914-70383012	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70377000-70381200	Enhancers	HUVEC	blood vessel
2	chr1:70379200-70381600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:70379200-70381600	Enhancers	Fetal Lung	lung
4	chr1:70379400-70381600	Enhancers	HSMMtube	muscle
5	chr1:70379400-70381600	Enhancers	Osteobl	bone
6	chr1:70379600-70381400	Enhancers	Brain Anterior Caudate	brain
7	chr1:70379600-70381400	Enhancers	Brain Hippocampus Middle	brain
8	chr1:70379800-70381600	Enhancers	Hela-S3	cervix
9	chr1:70380000-70381200	Enhancers	Adipose Nuclei	Adipose
10	chr1:70380000-70381200	Enhancers	Brain Angular Gyrus	brain
11	chr1:70380000-70381600	Enhancers	NHLF	lung
12	chr1:70380200-70381600	Enhancers	HSMM	muscle
13	chr1:70380400-70381400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:70380400-70381600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:70380600-70381200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:70380600-70381200	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:70380600-70381200	Enhancers	NH-A	brain
18	chr1:70380600-70381200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr1:70380600-70381600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:70380600-70381600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:70380800-70381400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:70380800-70381400	Enhancers	Dnd41	blood
23	chr1:70380800-70381600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:70381000-70381400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:70381000-70381400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:70381000-70381400	Active TSS	Ovary	ovary
27	chr1:70381000-70381600	Enhancers	Muscle Satellite Cultured Cells	--

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