Variant report

Variant	rs537533986
Chromosome Location	chr1:210405308-210405309
allele	A/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	chr1:210405238-210406224	SK-N-SH	brain:	n/a	n/a
2	REST	chr1:210405235-210408055	H1-neurons	neurons:	n/a	n/a
3	E2F4	chr1:210405287-210405540	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr1:210405304-210405624	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:210405282-210405528	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:210405175-210405567	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:210405299-210405899	SK-N-MC	brain:	n/a	n/a
8	TCF12	chr1:210405200-210408026	SK-N-SH	brain:	n/a	chr1:210407710-210407720

No.	Distal block	Cell Line	Cell type
1	chr1:210398376..210400495-chr1:210402941..210405832,2	K562	blood:
2	chr1:210404317..210408653-chr1:210545033..210548956,7	MCF-7	breast:
3	chr1:210404553..210406882-chr6:30538400..30541136,2	MCF-7	breast:

Variant related genes	Relation type
SERTAD4	TF binding region
ENSG00000204574	Chromatin interaction
ENSG00000200972	Chromatin interaction

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	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	esv3422029	chr1:210404854-210407702	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3334541	chr1:210405229-210407377	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:210403800-210405600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:210403800-210405600	Enhancers	NHEK	skin
3	chr1:210404400-210405600	Bivalent Enhancer	Fetal Heart	heart
4	chr1:210405000-210405400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:210405000-210405400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr1:210405000-210405400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:210405000-210405400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:210405000-210405400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr1:210405000-210405400	Enhancers	Left Ventricle	heart
10	chr1:210405000-210405400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:210405000-210405400	Bivalent Enhancer	NHDF-Ad	bronchial
12	chr1:210405000-210405600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:210405000-210405600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:210405000-210405600	Bivalent Enhancer	Thymus	Thymus
15	chr1:210405000-210407400	Active TSS	Stomach Smooth Muscle	stomach
16	chr1:210405000-210407600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:210405200-210405400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:210405200-210405400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr1:210405200-210405400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr1:210405200-210405400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr1:210405200-210405400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr1:210405200-210405400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:210405200-210405400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:210405200-210405400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:210405200-210405400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:210405200-210405400	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr1:210405200-210405400	Bivalent Enhancer	Fetal Kidney	kidney
28	chr1:210405200-210405400	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr1:210405200-210405600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:210405200-210405600	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:210405200-210405600	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:210405200-210405600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:210405200-210405800	Enhancers	Placenta	Placenta
34	chr1:210405200-210405800	Flanking Active TSS	HUVEC	blood vessel
35	chr1:210405200-210406400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:210405200-210406600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:210405200-210407600	Active TSS	NH-A	brain

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