Variant report

Variant	rs564047527
Chromosome Location	chr4:79696331-79696332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:79695648-79698681	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:79696261-79696333	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:79695584-79697705	K562	blood:	n/a	n/a
4	POLR2A	chr4:79695712-79698833	K562	blood:	n/a	n/a
5	MYC	chr4:79695591-79698574	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
6	TBP	chr4:79696121-79697135	Hela-S3	cervix:	n/a	n/a
7	RELA	chr4:79695491-79697309	GM19099	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
8	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
9	POLR2A	chr4:79696144-79698368	GM15510	blood:	n/a	n/a
10	POLR2A	chr4:79696044-79699275	MCF10A-Er-Src	breast:	n/a	n/a
11	RAD21	chr4:79696148-79696903	Hela-S3	cervix:	n/a	n/a
12	MYC	chr4:79696324-79697719	K562	blood:	n/a	chr4:79697385-79697395
13	POLR2A	chr4:79696066-79697822	K562	blood:	n/a	n/a
14	ATF2	chr4:79696278-79697078	GM12878	blood:	n/a	n/a
15	UBTF	chr4:79696176-79698607	K562	blood:	n/a	n/a
16	POLR2A	chr4:79696170-79698447	GM18526	blood:	n/a	n/a
17	POLR2A	chr4:79696307-79697788	HL-60	blood:	n/a	n/a
18	CHD1	chr4:79696188-79697060	H1-hESC	embryonic stem cell:	n/a	n/a
19	BHLHE40	chr4:79696276-79697722	GM12878	blood:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
20	POLR2A	chr4:79696307-79697862	GM12892	blood:	n/a	n/a
21	HCFC1	chr4:79696157-79697615	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr4:79695814-79698408	GM18505	blood:	n/a	n/a
23	FOXA1	chr4:79696077-79696443	HepG2	liver:	n/a	n/a
24	EP300	chr4:79696287-79696441	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:79696016-79697741	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr4:79696303-79697946	K562	blood:	n/a	chr4:79697385-79697395
27	CTCF	chr4:79696248-79696512	K562	blood:	n/a	n/a
28	POLR2A	chr4:79696076-79698466	Hela-S3	cervix:	n/a	n/a
29	ZNF384	chr4:79696137-79697712	K562	blood:	n/a	n/a
30	POLR2A	chr4:79695518-79698666	GM12878	blood:	n/a	n/a
31	MXI1	chr4:79696132-79697696	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:79696114-79698413	K562	blood:	n/a	n/a
33	POLR2A	chr4:79695634-79698859	K562	blood:	n/a	n/a
34	RELA	chr4:79695471-79697408	GM18951	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
35	POLR2A	chr4:79696276-79697701	ECC-1	luminal epithelium:	n/a	n/a
36	PML	chr4:79696171-79697784	GM12878	blood:	n/a	n/a
37	ZNF384	chr4:79696143-79696589	GM12878	blood:	n/a	n/a
38	ARID3A	chr4:79696224-79697077	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:79696077-79697168	GM12878	blood:	n/a	n/a
40	TBP	chr4:79696265-79698392	K562	blood:	n/a	n/a
41	RUNX3	chr4:79696327-79697695	GM12878	blood:	n/a	n/a
42	NR2F2	chr4:79695994-79697235	K562	blood:	n/a	n/a
43	CHD2	chr4:79696255-79697689	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:79696277-79697677	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr4:79696127-79697752	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:79696328-79697717	GM12892	blood:	n/a	n/a
47	SMC3	chr4:79696145-79697698	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr4:79696164-79698401	NB4	blood:	n/a	n/a
49	POLR2A	chr4:79696167-79698492	GM19193	blood:	n/a	n/a
50	POLR2A	chr4:79696078-79697773	HEK293	kidney:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79676661..79679162-chr4:79694637..79696425,2	K562	blood:
2	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
3	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
4	chr4:79565619..79566154-chr4:79696280..79696883,2	MCF-7	breast:
5	chr4:79531023..79534724-chr4:79692809..79696400,3	K562	blood:
6	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
7	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
8	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
9	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR3-1	chr4:79694808-79697127	ENSG00000260278.1

No data

Variant related genes	Relation type
BMP2K	TF binding region
ENSG00000251019	Chromatin interaction
ENSG00000239793	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv3358831	chr4:79696153-79699301	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79689800-79696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:79695400-79696400	Flanking Active TSS	GM12878-XiMat	blood
3	chr4:79695600-79696400	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:79696000-79696400	Enhancers	Stomach Mucosa	stomach
7	chr4:79696000-79696600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:79696000-79696600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:79696000-79696600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:79696000-79696600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:79696000-79696600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr4:79696000-79696600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr4:79696000-79696600	Flanking Active TSS	NHLF	lung
14	chr4:79696000-79696800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr4:79696000-79696800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:79696000-79697200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:79696000-79698000	Active TSS	Stomach Smooth Muscle	stomach
20	chr4:79696000-79698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:79696000-79698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:79696000-79699000	Active TSS	Hela-S3	cervix
23	chr4:79696000-79699600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:79696200-79696400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr4:79696200-79696400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr4:79696200-79696400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:79696200-79696400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr4:79696200-79696400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:79696200-79696400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr4:79696200-79696400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:79696200-79696400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr4:79696200-79696400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:79696200-79696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:79696200-79696400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr4:79696200-79696400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:79696200-79696400	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr4:79696200-79696400	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr4:79696200-79696400	Flanking Active TSS	Fetal Heart	heart
40	chr4:79696200-79696400	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr4:79696200-79696400	Flanking Active TSS	Fetal Lung	lung
42	chr4:79696200-79696400	Enhancers	Placenta	Placenta
43	chr4:79696200-79696400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:79696200-79696400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr4:79696200-79696400	Active TSS	HepG2	liver
46	chr4:79696200-79696400	Flanking Active TSS	HSMM	muscle
47	chr4:79696200-79696400	Flanking Active TSS	K562	blood
48	chr4:79696200-79696600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr4:79696200-79696600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:79696200-79696600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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