Variant report

Variant	rs188679724
Chromosome Location	chr4:129726280-129726281
allele	C/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	EP300	chr4:129725892-129726329	MCF-7	breast:	n/a	chr4:129725936-129725950 chr4:129725951-129725965
2	EP300	chr4:129725952-129726286	MCF-7	breast:	n/a	n/a
3	ZNF217	chr4:129725930-129726287	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129521730..129523961-chr4:129725803..129727506,2	K562	blood:
2	chr4:129725702..129726480-chr4:129789353..129790148,2	MCF-7	breast:

Variant related genes	Relation type
JADE1	TF binding region
ENSG00000248802	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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv822717	chr4:129724785-129739862	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129720000-129726400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:129723600-129730000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:129723600-129730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:129724400-129727400	Enhancers	Placenta	Placenta
5	chr4:129724800-129726400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:129724800-129726400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:129724800-129730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:129725000-129730400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:129725200-129730400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:129725400-129728800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:129725400-129730000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:129725400-129730200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:129725400-129730200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:129725400-129730400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:129725400-129730400	Weak transcription	Stomach Mucosa	stomach
16	chr4:129725600-129730000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:129725600-129730000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:129725600-129730000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:129725600-129730000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:129725600-129730200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:129725600-129730200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:129725600-129730200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:129725600-129730400	Weak transcription	Fetal Intestine Small	intestine
24	chr4:129726200-129728000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:129726200-129729000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:129726200-129729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:129726200-129730200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:129726200-129730200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:129726200-129730400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:129726200-129730400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:129726200-129730800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:129726200-129731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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