Variant report

Variant	rs567390631
Chromosome Location	chr3:49968812-49968813
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr3:49968384-49968841	K562	blood:	n/a	n/a
2	MXI1	chr3:49966578-49969002	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
2	chr3:49964076..49966567-chr3:49968283..49970694,2	K562	blood:
3	chr3:49840341..49842910-chr3:49967049..49969753,2	K562	blood:
4	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
5	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
6	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
7	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:

No data

Variant related genes	Relation type
MON1A	TF binding region
ENSG00000004534	Chromatin interaction
ENSG00000003756	Chromatin interaction
ENSG00000185614	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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49967600-49969000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:49967600-49969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:49967600-49969200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:49967600-49977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:49967800-49969000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:49967800-49969000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:49967800-49969000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:49967800-49969000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:49967800-49969000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:49967800-49969000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:49967800-49969000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:49967800-49969000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:49967800-49969000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:49967800-49969000	Enhancers	NHEK	skin
15	chr3:49967800-49969800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:49967800-49971000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:49967800-49971200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:49967800-49977000	Weak transcription	Primary B cells from cord blood	blood
19	chr3:49967800-49977000	Weak transcription	NHLF	lung
20	chr3:49968000-49969200	Enhancers	Fetal Kidney	kidney
21	chr3:49968000-49969400	Enhancers	Fetal Intestine Large	intestine
22	chr3:49968000-49976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:49968200-49969000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:49968200-49969000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:49968200-49969200	Enhancers	Duodenum Mucosa	Duodenum
26	chr3:49968200-49969200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:49968200-49969400	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:49968200-49969400	Enhancers	Fetal Intestine Small	intestine
29	chr3:49968400-49969000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:49968600-49969000	Weak transcription	GM12878-XiMat	blood
31	chr3:49968800-49969000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr3:49968800-49969000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:49968800-49969200	Enhancers	K562	blood
34	chr3:49968800-49976800	Weak transcription	HepG2	liver

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