Variant report

Variant	rs151275104
Chromosome Location	chr4:57772911-57772912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr4:57772610-57772979	HEK293	kidney:	n/a	n/a
2	SPI1	chr4:57772660-57772988	HL-60	blood:	n/a	n/a
3	CEBPB	chr4:57772889-57773155	HepG2	liver:	n/a	n/a
4	SPI1	chr4:57772594-57773032	HL-60	blood:	n/a	n/a
5	CEBPB	chr4:57772840-57773146	K562	blood:	n/a	n/a
6	CEBPB	chr4:57772842-57773384	K562	blood:	n/a	n/a
7	CTCF	chr4:57772840-57772990	GM12873	blood:	n/a	n/a
8	CEBPB	chr4:57772879-57773119	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:
2	chr4:57771688..57776264-chr4:57841866..57845328,7	MCF-7	breast:
3	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:

No data

Variant related genes	Relation type
REST	TF binding region
ENSG00000084092	Chromatin interaction
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822562	chr4:57768655-57779715	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv12676	chr4:57772270-57775584	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57761600-57773000	Weak transcription	Right Atrium	heart
2	chr4:57771800-57773200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:57772000-57773000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr4:57772000-57773400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:57772200-57773000	Enhancers	Primary T cells from cord blood	blood
6	chr4:57772200-57773200	Enhancers	Primary B cells from cord blood	blood
7	chr4:57772600-57773000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:57772600-57773000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:57772600-57773000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:57772600-57773000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:57772600-57773000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:57772600-57773000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:57772600-57773000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:57772600-57773200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr4:57772600-57773200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr4:57772600-57773200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:57772600-57773200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:57772600-57773200	Enhancers	Adipose Nuclei	Adipose
19	chr4:57772600-57773200	Enhancers	Brain Hippocampus Middle	brain
20	chr4:57772600-57773200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:57772600-57773200	Enhancers	Fetal Thymus	thymus
22	chr4:57772600-57773200	Enhancers	Stomach Mucosa	stomach
23	chr4:57772600-57773200	Enhancers	Dnd41	blood
24	chr4:57772600-57773200	Bivalent Enhancer	K562	blood
25	chr4:57772600-57773400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr4:57772600-57773600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr4:57772800-57773000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:57772800-57773000	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:57772800-57773000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr4:57772800-57773000	Enhancers	Brain Anterior Caudate	brain
31	chr4:57772800-57773000	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:57772800-57773000	Bivalent Enhancer	Fetal Kidney	kidney
33	chr4:57772800-57773000	Enhancers	Fetal Lung	lung
34	chr4:57772800-57773000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr4:57772800-57773000	Enhancers	Thymus	Thymus
36	chr4:57772800-57773000	Bivalent Enhancer	HepG2	liver
37	chr4:57772800-57773200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr4:57772800-57773200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:57772800-57773200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
40	chr4:57772800-57773200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:57772800-57773200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:57772800-57773200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:57772800-57773200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:57772800-57773200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:57772800-57773200	Enhancers	Brain Angular Gyrus	brain
46	chr4:57772800-57773200	Enhancers	Fetal Intestine Large	intestine
47	chr4:57772800-57773200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:57772800-57773200	Enhancers	Small Intestine	intestine
49	chr4:57772800-57773400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr4:57772800-57773400	Enhancers	Primary B cells from peripheral blood	blood

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