Variant report

Variant	rs186744498
Chromosome Location	chr4:7045932-7045933
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

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	chr4:7045109-7045966	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:7045565-7046724	K562	blood:	n/a	n/a
5	HMGN3	chr4:7044111-7045963	K562	blood:	n/a	n/a
6	PAX5	chr4:7045609-7045976	GM12892	blood:	n/a	n/a
7	CREB1	chr4:7044100-7046023	HepG2	liver:	n/a	n/a
8	CCNT2	chr4:7044207-7046106	K562	blood:	n/a	n/a
9	SIN3A	chr4:7045295-7046084	H1-hESC	embryonic stem cell:	n/a	chr4:7045987-7045998
10	MYC	chr4:7045773-7045950	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr4:7045713-7046083	K562	blood:	n/a	n/a
12	RCOR1	chr4:7045518-7045989	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:7044625-7046119	GM18951	blood:	n/a	n/a
14	ZNF263	chr4:7045375-7046985	HEK293-T-REx	kidney:	n/a	chr4:7046450-7046459
15	CHD2	chr4:7045639-7045945	Hela-S3	cervix:	n/a	n/a
16	MAX	chr4:7045236-7046628	K562	blood:	n/a	n/a
17	RUNX3	chr4:7045909-7046400	GM12878	blood:	n/a	n/a
18	YY1	chr4:7044847-7045973	GM12878	blood:	n/a	chr4:7044890-7044899 chr4:7045296-7045316 chr4:7044888-7044902
19	POLR2A	chr4:7044530-7046090	GM19193	blood:	n/a	n/a
20	GTF2F1	chr4:7045904-7046355	K562	blood:	n/a	n/a
21	MXI1	chr4:7045256-7047003	IMR90	lung:	n/a	n/a
22	CHD1	chr4:7045256-7046943	IMR90	lung:	n/a	n/a
23	TEAD4	chr4:7045756-7046194	K562	blood:	n/a	n/a
24	POLR2A	chr4:7044222-7046412	GM18505	blood:	n/a	n/a
25	POLR2A	chr4:7044959-7046102	GM12878	blood:	n/a	n/a
26	CEBPB	chr4:7045729-7046021	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:7044577-7046061	GM12892	blood:	n/a	n/a
28	CEBPB	chr4:7045725-7046023	A549	lung:	n/a	n/a
29	YY1	chr4:7044546-7046007	GM12892	blood:	n/a	chr4:7044890-7044899 chr4:7045296-7045316 chr4:7044888-7044902
30	POLR2A	chr4:7045129-7046189	GM12878	blood:	n/a	n/a
31	MAX	chr4:7045233-7045954	A549	lung:	n/a	n/a
32	POLR2A	chr4:7044345-7046062	H1-neurons	neurons:	n/a	n/a
33	CEBPB	chr4:7045622-7045965	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr4:7043334-7046881	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr4:7044376-7046157	GM12892	blood:	n/a	n/a
36	MYC	chr4:7045293-7046081	NB4	blood:	n/a	n/a
37	POLR2A	chr4:7044929-7046350	GM12878	blood:	n/a	n/a
38	MYC	chr4:7044451-7046388	K562	blood:	n/a	n/a
39	POLR2A	chr4:7044450-7045962	Hela-S3	cervix:	n/a	n/a
40	MTA3	chr4:7045255-7046421	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:7044437-7045933	MCF-7	breast:	n/a	n/a
42	RCOR1	chr4:7045598-7045972	Hela-S3	cervix:	n/a	n/a
43	MYC	chr4:7045295-7046517	K562	blood:	n/a	n/a
44	MAZ	chr4:7043799-7045962	IMR90	lung:	n/a	n/a
45	E2F6	chr4:7043919-7046018	K562	blood:	n/a	chr4:7045104-7045113
46	POLR2A	chr4:7044547-7045942	GM15510	blood:	n/a	n/a
47	UBTF	chr4:7043815-7046305	K562	blood:	n/a	n/a
48	POLR2A	chr4:7044948-7046360	K562	blood:	n/a	n/a
49	BHLHE40	chr4:7045671-7046237	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:7045238-7046041	GM12878	blood:	n/a	n/a

No data

(count:10 , 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	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
4	chr4:7031028..7032644-chr4:7045295..7046851,2	MCF-7	breast:
5	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
6	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
7	chr4:6674690..6677394-chr4:7044280..7046366,2	K562	blood:
8	chr10:79691250..79693205-chr4:7045398..7046907,2	MCF-7	breast:
9	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
10	chr4:6909683..6913053-chr4:7043553..7046923,6	MCF-7	breast:

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv593548	chr4:7043099-7045945	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	esv3344080	chr4:7043676-7046224	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	esv14348	chr4:7043979-7045994	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv593550	chr4:7044220-7045945	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
17	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
18	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:127 , 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	chr4:7043800-7046200	Active TSS	Hela-S3	cervix
5	chr4:7043800-7046400	Active TSS	Aorta	Aorta
6	chr4:7043800-7046400	Active TSS	Colon Smooth Muscle	Colon
7	chr4:7043800-7046400	Active TSS	Small Intestine	intestine
8	chr4:7043800-7046400	Active TSS	NHDF-Ad	bronchial
9	chr4:7043800-7046600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:7044000-7046000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:7044000-7046000	Active TSS	Brain Anterior Caudate	brain
12	chr4:7044000-7046000	Active TSS	Lung	lung
13	chr4:7044000-7046000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr4:7044000-7046200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:7044000-7046200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:7044000-7046200	Active TSS	Fetal Intestine Small	intestine
17	chr4:7044000-7046200	Active TSS	Right Ventricle	heart
18	chr4:7044000-7046200	Active TSS	HSMM	muscle
19	chr4:7044000-7046400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:7044000-7046400	Active TSS	Brain Angular Gyrus	brain
21	chr4:7044000-7046400	Active TSS	Left Ventricle	heart
22	chr4:7044000-7046400	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:7044000-7046400	Active TSS	Right Atrium	heart
24	chr4:7044000-7046600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:7044000-7046600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:7044000-7046600	Active TSS	Fetal Intestine Large	intestine
27	chr4:7044000-7046600	Active TSS	Gastric	stomach
28	chr4:7044200-7046000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr4:7044200-7046000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:7044200-7046000	Active TSS	Fetal Brain Female	brain
31	chr4:7044200-7046000	Active TSS	Placenta	Placenta
32	chr4:7044200-7046000	Active TSS	Fetal Stomach	stomach
33	chr4:7044200-7046000	Active TSS	Stomach Mucosa	stomach
34	chr4:7044200-7046000	Active TSS	Osteobl	bone
35	chr4:7044200-7046200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr4:7044200-7046200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:7044200-7046200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:7044200-7046200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:7044200-7046200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:7044200-7046200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr4:7044200-7046200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:7044200-7046200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:7044200-7046200	Active TSS	Psoas Muscle	Psoas
44	chr4:7044200-7046400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:7044200-7046400	Active TSS	Brain Cingulate Gyrus	brain
46	chr4:7044200-7046400	Active TSS	Esophagus	oesophagus
47	chr4:7044200-7046400	Active TSS	Ovary	ovary
48	chr4:7044200-7046400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:7044200-7046400	Active TSS	GM12878-XiMat	blood
50	chr4:7044200-7046400	Active TSS	HSMMtube	muscle

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