Variant report

Variant	rs564261378
Chromosome Location	chr1:113050473-113050474
allele	G/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	MAZ	chr1:113050395-113051734	IMR90	lung:	n/a	n/a
2	GTF2F1	chr1:113050456-113050485	Hela-S3	cervix:	n/a	n/a
3	SIN3A	chr1:113049979-113052294	H1-hESC	embryonic stem cell:	n/a	chr1:113050641-113050650 chr1:113051200-113051213 chr1:113050644-113050657
4	ZNF263	chr1:113050418-113051636	HEK293-T-REx	kidney:	n/a	chr1:113050680-113050689
5	ZBTB7A	chr1:113050451-113051666	ECC-1	luminal epithelium:	n/a	chr1:113050886-113050893
6	ZBTB7A	chr1:113050449-113051796	ECC-1	luminal epithelium:	n/a	chr1:113050886-113050893
7	WRNIP1	chr1:113050435-113050477	GM12878	blood:	n/a	n/a
8	CTBP2	chr1:113049984-113052188	H1-hESC	embryonic stem cell:	n/a	n/a
9	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
ENSG00000261595	Chromatin interaction
ENSG00000155367	Chromatin interaction
ENSG00000007341	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:96 , 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	chr1:113045400-113050600	Bivalent Enhancer	Fetal Stomach	stomach
4	chr1:113045600-113050600	Weak transcription	Esophagus	oesophagus
5	chr1:113045600-113050600	Weak transcription	Gastric	stomach
6	chr1:113049600-113050600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:113049800-113050600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr1:113050000-113052400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:113050200-113050600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:113050200-113050600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:113050200-113050600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:113050200-113050600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:113050200-113050600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:113050200-113050600	Bivalent Enhancer	Colon Smooth Muscle	Colon
15	chr1:113050200-113050600	Bivalent Enhancer	Fetal Thymus	thymus
16	chr1:113050200-113050800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
17	chr1:113050200-113051000	Bivalent Enhancer	Fetal Brain Male	brain
18	chr1:113050200-113051200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:113050200-113051400	Flanking Active TSS	Hela-S3	cervix
20	chr1:113050200-113052000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:113050200-113052000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:113050200-113052200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr1:113050200-113052200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:113050200-113052200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:113050200-113052200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr1:113050200-113052400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:113050200-113052400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:113050200-113052400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:113050200-113052800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:113050400-113050600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:113050400-113050600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:113050400-113050600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr1:113050400-113050600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr1:113050400-113050600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:113050400-113050600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
36	chr1:113050400-113050600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr1:113050400-113050600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:113050400-113050600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:113050400-113050600	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr1:113050400-113050600	Active TSS	Brain Anterior Caudate	brain
41	chr1:113050400-113050600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:113050400-113050600	Bivalent Enhancer	Psoas Muscle	Psoas
43	chr1:113050400-113050600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr1:113050400-113050600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
45	chr1:113050400-113050600	Bivalent/Poised TSS	Thymus	Thymus
46	chr1:113050400-113050600	Flanking Active TSS	A549	lung
47	chr1:113050400-113050600	Bivalent Enhancer	GM12878-XiMat	blood
48	chr1:113050400-113050600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr1:113050400-113050800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:113050400-113050800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain

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