Variant report

Variant	rs375761020
Chromosome Location	chr1:113050255-113050256
allele	C/T
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	SIN3A	chr1:113049979-113052294	H1-hESC	embryonic stem cell:	n/a	chr1:113050641-113050650 chr1:113051200-113051213 chr1:113050644-113050657
2	FOSL1	chr1:113049881-113050371	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOSL1	chr1:113049943-113050306	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr1:113049984-113052188	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr1:113049933-113052247	H1-hESC	embryonic stem cell:	n/a	chr1:113051495-113051505 chr1:113050997-113051012 chr1:113050284-113050294 chr1:113050519-113050537 chr1:113050652-113050662

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113048065..113050562-chr1:113256191..113259414,3	MCF-7	breast:
2	chr1:113050070..113052532-chr1:113159337..113161675,2	MCF-7	breast:

Variant related genes	Relation type
WNT2B	TF binding region
ENSG00000155367	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000261595	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1008375	chr1:113028271-113060221	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1009068	chr1:113048992-113057407	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113045000-113050600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:113045000-113050600	Weak transcription	Spleen	Spleen
3	chr1:113045200-113050400	Weak transcription	Lung	lung
4	chr1:113045200-113050400	Enhancers	Ovary	ovary
5	chr1:113045400-113050400	Weak transcription	A549	lung
6	chr1:113045400-113050600	Bivalent Enhancer	Fetal Stomach	stomach
7	chr1:113045600-113050600	Weak transcription	Esophagus	oesophagus
8	chr1:113045600-113050600	Weak transcription	Gastric	stomach
9	chr1:113048000-113050400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr1:113048200-113050400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:113049400-113050400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:113049600-113050400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:113049600-113050600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:113049800-113050400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
15	chr1:113049800-113050400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr1:113049800-113050600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr1:113050000-113050400	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr1:113050000-113050400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr1:113050000-113050400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:113050000-113050400	Enhancers	Right Ventricle	heart
21	chr1:113050000-113052400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:113050200-113050400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr1:113050200-113050400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:113050200-113050400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr1:113050200-113050400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:113050200-113050400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr1:113050200-113050400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:113050200-113050400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:113050200-113050400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr1:113050200-113050400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr1:113050200-113050400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr1:113050200-113050600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:113050200-113050600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:113050200-113050600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:113050200-113050600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:113050200-113050600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:113050200-113050600	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr1:113050200-113050600	Bivalent Enhancer	Fetal Thymus	thymus
39	chr1:113050200-113050800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
40	chr1:113050200-113051000	Bivalent Enhancer	Fetal Brain Male	brain
41	chr1:113050200-113051200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:113050200-113051400	Flanking Active TSS	Hela-S3	cervix
43	chr1:113050200-113052000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:113050200-113052000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:113050200-113052200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr1:113050200-113052200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:113050200-113052200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:113050200-113052200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr1:113050200-113052400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:113050200-113052400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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