Variant report

Variant	rs545594908
Chromosome Location	chr4:7046247-7046248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr4:7045107-7046256	GM12878	blood:	n/a	n/a
2	RUNX3	chr4:7045893-7046276	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:7045565-7046724	K562	blood:	n/a	n/a
4	ZNF263	chr4:7045375-7046985	HEK293-T-REx	kidney:	n/a	chr4:7046450-7046459
5	MAX	chr4:7046007-7046391	GM12878	blood:	n/a	n/a
6	MAX	chr4:7045236-7046628	K562	blood:	n/a	n/a
7	E2F6	chr4:7046201-7046499	K562	blood:	n/a	n/a
8	RUNX3	chr4:7045909-7046400	GM12878	blood:	n/a	n/a
9	GTF2F1	chr4:7045904-7046355	K562	blood:	n/a	n/a
10	MXI1	chr4:7045256-7047003	IMR90	lung:	n/a	n/a
11	CHD1	chr4:7045256-7046943	IMR90	lung:	n/a	n/a
12	POLR2A	chr4:7044222-7046412	GM18505	blood:	n/a	n/a
13	MXI1	chr4:7043334-7046881	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr4:7044929-7046350	GM12878	blood:	n/a	n/a
15	MYC	chr4:7044451-7046388	K562	blood:	n/a	n/a
16	WRNIP1	chr4:7046181-7046495	GM12878	blood:	n/a	n/a
17	MTA3	chr4:7045255-7046421	GM12878	blood:	n/a	n/a
18	MAX	chr4:7046063-7046437	K562	blood:	n/a	n/a
19	MYC	chr4:7045295-7046517	K562	blood:	n/a	n/a
20	SIN3A	chr4:7046112-7046467	GM12878	blood:	n/a	n/a
21	UBTF	chr4:7043815-7046305	K562	blood:	n/a	n/a
22	POLR2A	chr4:7044948-7046360	K562	blood:	n/a	n/a
23	POLR2A	chr4:7045287-7046361	HepG2	liver:	n/a	n/a
24	MAX	chr4:7045291-7046277	NB4	blood:	n/a	n/a
25	MXI1	chr4:7045330-7046430	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:6909981..6913772-chr4:7044379..7047071,5	MCF-7	breast:
2	chr4:7000132..7002859-chr4:7044384..7046741,2	MCF-7	breast:
3	chr4:7031028..7032644-chr4:7045295..7046851,2	MCF-7	breast:
4	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
5	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
6	chr4:6674690..6677394-chr4:7044280..7046366,2	K562	blood:
7	chr10:79691250..79693205-chr4:7045398..7046907,2	MCF-7	breast:
8	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
9	chr4:6909683..6913053-chr4:7043553..7046923,6	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC96	TF binding region
ENSG00000109519	Chromatin interaction
ENSG00000251580	Chromatin interaction
ENSG00000245468	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000170846	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv1801315	chr4:7044007-7052777	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1835149	chr4:7044007-7052777	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv593556	chr4:7044447-7048842	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv1798014	chr4:7044504-7052182	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7043400-7046600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:7043600-7046600	Active TSS	Fetal Kidney	kidney
3	chr4:7043600-7046600	Active TSS	A549	lung
4	chr4:7043800-7046400	Active TSS	Aorta	Aorta
5	chr4:7043800-7046400	Active TSS	Colon Smooth Muscle	Colon
6	chr4:7043800-7046400	Active TSS	Small Intestine	intestine
7	chr4:7043800-7046400	Active TSS	NHDF-Ad	bronchial
8	chr4:7043800-7046600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:7044000-7046400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:7044000-7046400	Active TSS	Brain Angular Gyrus	brain
11	chr4:7044000-7046400	Active TSS	Left Ventricle	heart
12	chr4:7044000-7046400	Active TSS	Rectal Smooth Muscle	rectum
13	chr4:7044000-7046400	Active TSS	Right Atrium	heart
14	chr4:7044000-7046600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:7044000-7046600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:7044000-7046600	Active TSS	Fetal Intestine Large	intestine
17	chr4:7044000-7046600	Active TSS	Gastric	stomach
18	chr4:7044200-7046400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:7044200-7046400	Active TSS	Brain Cingulate Gyrus	brain
20	chr4:7044200-7046400	Active TSS	Esophagus	oesophagus
21	chr4:7044200-7046400	Active TSS	Ovary	ovary
22	chr4:7044200-7046400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:7044200-7046400	Active TSS	GM12878-XiMat	blood
24	chr4:7044200-7046400	Active TSS	HSMMtube	muscle
25	chr4:7044200-7046400	Active TSS	NHEK	skin
26	chr4:7044200-7046400	Active TSS	NHLF	lung
27	chr4:7044400-7046400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:7045400-7046400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:7045400-7046400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:7045400-7046400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:7045400-7046800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:7045400-7047000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr4:7045400-7048000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr4:7045600-7046400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:7045600-7046400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:7045600-7046800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:7045600-7047000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr4:7045600-7047000	Flanking Active TSS	Fetal Brain Male	brain
39	chr4:7045600-7047200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:7045600-7047200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr4:7045600-7047200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr4:7045800-7046400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr4:7045800-7046400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr4:7045800-7046400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr4:7045800-7046400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr4:7045800-7046600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:7045800-7046600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr4:7045800-7046600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr4:7045800-7046600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr4:7045800-7046600	Flanking Active TSS	Fetal Muscle Trunk	muscle

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