Variant report

Variant	rs555632229
Chromosome Location	chr3:49968749-49968750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:49968443-49968781	K562	blood:	n/a	n/a
2	JUND	chr3:49968384-49968841	K562	blood:	n/a	n/a
3	POLR2A	chr3:49968330-49968757	HCT-116	colon:	n/a	n/a
4	RAD21	chr3:49968186-49968769	HCT-116	colon:	n/a	chr3:49968474-49968487 chr3:49968476-49968486 chr3:49968475-49968484
5	CTCF	chr3:49968660-49968810	GM12874	blood:	n/a	n/a
6	POLR2A	chr3:49968251-49968800	K562	blood:	n/a	n/a
7	MXI1	chr3:49966578-49969002	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 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	chr3:49750537..49752087-chr3:49966182..49968764,2	K562	blood:
8	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
ENSG00000164068	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49967600-49968800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49967600-49969000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:49967600-49969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:49967600-49969200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:49967600-49977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:49967800-49968800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:49967800-49968800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:49967800-49968800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:49967800-49968800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:49967800-49968800	Enhancers	Hela-S3	cervix
11	chr3:49967800-49969000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:49967800-49969000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:49967800-49969000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:49967800-49969000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:49967800-49969000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:49967800-49969000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:49967800-49969000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:49967800-49969000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:49967800-49969000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:49967800-49969000	Enhancers	NHEK	skin
21	chr3:49967800-49969800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:49967800-49971000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:49967800-49971200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:49967800-49977000	Weak transcription	Primary B cells from cord blood	blood
25	chr3:49967800-49977000	Weak transcription	NHLF	lung
26	chr3:49968000-49968800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:49968000-49968800	Enhancers	Pancreas	Pancrea
28	chr3:49968000-49968800	Enhancers	Rectal Smooth Muscle	rectum
29	chr3:49968000-49968800	Enhancers	Right Atrium	heart
30	chr3:49968000-49968800	Flanking Active TSS	K562	blood
31	chr3:49968000-49969200	Enhancers	Fetal Kidney	kidney
32	chr3:49968000-49969400	Enhancers	Fetal Intestine Large	intestine
33	chr3:49968000-49976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:49968200-49968800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:49968200-49968800	Enhancers	Adipose Nuclei	Adipose
36	chr3:49968200-49968800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:49968200-49968800	Flanking Active TSS	HepG2	liver
38	chr3:49968200-49969000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:49968200-49969000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:49968200-49969200	Enhancers	Duodenum Mucosa	Duodenum
41	chr3:49968200-49969200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:49968200-49969400	Enhancers	Primary hematopoietic stem cells	blood
43	chr3:49968200-49969400	Enhancers	Fetal Intestine Small	intestine
44	chr3:49968400-49969000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:49968600-49968800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:49968600-49968800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:49968600-49969000	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links