Variant report

Variant	rs569363948
Chromosome Location	chr4:129724791-129724792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129711670..129714323-chr4:129722510..129724849,2	K562	blood:

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129719800-129726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:129720000-129726400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:129721600-129725400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:129723200-129724800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:129723600-129724800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:129723600-129730000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:129723600-129730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:129724000-129724800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr4:129724000-129726200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:129724200-129724800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:129724200-129724800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:129724200-129724800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:129724200-129724800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:129724200-129725000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:129724200-129725200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:129724200-129725200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:129724200-129725600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:129724200-129725600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:129724200-129725600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr4:129724200-129725600	Enhancers	Fetal Intestine Small	intestine
21	chr4:129724200-129726200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr4:129724400-129724800	Enhancers	GM12878-XiMat	blood
23	chr4:129724400-129725200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:129724400-129725400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:129724400-129725400	Enhancers	Stomach Mucosa	stomach
26	chr4:129724400-129726200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:129724400-129726200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:129724400-129727400	Enhancers	Placenta	Placenta
29	chr4:129724600-129724800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:129724600-129724800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:129724600-129725000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:129724600-129725200	Active TSS	Colonic Mucosa	Colon
33	chr4:129724600-129725400	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:129724600-129725600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:129724600-129725600	Enhancers	Fetal Intestine Large	intestine
36	chr4:129724600-129726200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:129724600-129726200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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