Variant report

Variant	rs187414023
Chromosome Location	chr4:7045081-7045082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:7044872-7045099	GM12878	blood:	n/a	n/a
2	TAF1	chr4:7044896-7045203	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr4:7044979-7045721	ECC-1	luminal epithelium:	n/a	chr4:7045296-7045316
4	RUNX3	chr4:7044707-7045144	GM12878	blood:	n/a	n/a
5	YY1	chr4:7044810-7045747	GM12891	blood:	n/a	chr4:7044890-7044899 chr4:7045296-7045316 chr4:7044888-7044902
6	CTCF	chr4:7044719-7045145	Spleen_OC	spleen:	n/a	n/a
7	HMGN3	chr4:7044111-7045963	K562	blood:	n/a	n/a
8	POLR2A	chr4:7045031-7045190	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr4:7044932-7045111	Hela-S3	cervix:	n/a	n/a
10	E2F4	chr4:7044523-7045216	K562	blood:	n/a	chr4:7045104-7045113
11	MYC	chr4:7045019-7045655	MCF-7	breast:	n/a	n/a
12	POLR2A	chr4:7044324-7045307	HepG2	liver:	n/a	n/a
13	RCOR1	chr4:7044035-7045383	K562	blood:	n/a	n/a
14	CREB1	chr4:7044477-7045156	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:7044197-7045576	IMR90	lung:	n/a	n/a
16	CTCF	chr4:7044940-7045090	GM12866	blood:	n/a	n/a
17	POLR2A	chr4:7045005-7045847	Hela-S3	cervix:	n/a	n/a
18	YY1	chr4:7044394-7045861	HepG2	liver:	n/a	chr4:7044890-7044899 chr4:7045296-7045316 chr4:7044888-7044902
19	CTCF	chr4:7044940-7045090	HCT-116	colon:	n/a	n/a
20	CTCF	chr4:7044940-7045090	GM12869	blood:	n/a	n/a
21	RAD21	chr4:7044797-7045169	K562	blood:	n/a	n/a
22	CTCF	chr4:7044854-7045117	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:7045000-7045226	HCT-116	colon:	n/a	n/a
24	CEBPD	chr4:7044885-7045231	HepG2	liver:	n/a	n/a
25	CTCF	chr4:7044883-7045128	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:7044967-7045288	A549	lung:	n/a	n/a
27	POLR2A	chr4:7044977-7045797	GM10847	blood:	n/a	n/a
28	CREB1	chr4:7044532-7045192	A549	lung:	n/a	n/a
29	CREB1	chr4:7044100-7046023	HepG2	liver:	n/a	n/a
30	CTCF	chr4:7044889-7045144	GM10266	blood:	n/a	n/a
31	CCNT2	chr4:7044207-7046106	K562	blood:	n/a	n/a
32	CTCF	chr4:7044902-7045124	ProgFib	skin:	n/a	n/a
33	TAF1	chr4:7044718-7045893	HepG2	liver:	n/a	n/a
34	MYC	chr4:7044746-7045125	A549	lung:	n/a	n/a
35	CTCF	chr4:7044884-7045166	LNCaP	prostate:	n/a	n/a
36	MAZ	chr4:7044221-7045888	GM12878	blood:	n/a	n/a
37	MAX	chr4:7044254-7045151	A549	lung:	n/a	n/a
38	POLR2A	chr4:7044529-7045794	NB4	blood:	n/a	n/a
39	POLR2A	chr4:7044974-7045229	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:7044982-7045225	A549	lung:	n/a	n/a
41	MAX	chr4:7044414-7045152	SK-N-SH	brain:	n/a	n/a
42	TAF1	chr4:7044171-7045139	H1-neurons	neurons:	n/a	n/a
43	TAF1	chr4:7044346-7045754	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr4:7044757-7045237	GM12878	blood:	n/a	n/a
45	E2F6	chr4:7044426-7045124	H1-hESC	embryonic stem cell:	n/a	chr4:7045104-7045113
46	CTCF	chr4:7044738-7045130	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:7044698-7045223	IMR90	lung:	n/a	n/a
48	CTCF	chr4:7044878-7045128	GM13976	blood:	n/a	n/a
49	TAF1	chr4:7044888-7045122	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:7044625-7046119	GM18951	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:
2	chr4:6909981..6913772-chr4:7044379..7047071,5	MCF-7	breast:
3	chr4:7000132..7002859-chr4:7044384..7046741,2	MCF-7	breast:
4	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
5	chr4:7044811..7045632-chr4:7069385..7070353,2	NB4	blood:
6	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
7	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
8	chr4:6674690..6677394-chr4:7044280..7046366,2	K562	blood:
9	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
10	chr4:6909683..6913053-chr4:7043553..7046923,6	MCF-7	breast:
11	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:

No data

Variant related genes	Relation type
TADA2B	TF binding region
CCDC96	TF binding region
ENSG00000170846	Chromatin interaction
ENSG00000251580	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000245468	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000110031	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv593549	chr4:7044220-7045657	Flanking Active TSS Active TSS Bivalent/Poised 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	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
18	nsv593551	chr4:7044324-7045498	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
19	nsv593552	chr4:7044324-7045657	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv593553	chr4:7044324-7045760	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
21	nsv593554	chr4:7044447-7045657	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv593555	chr4:7044447-7045760	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
23	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
24	esv1803435	chr4:7044504-7045657	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
25	nsv593557	chr4:7044504-7045657	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
26	esv1837562	chr4:7044504-7045760	Flanking Active TSS Active TSS Bivalent/Poised 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
27	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:126 , 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	chr4:7043800-7045600	Weak transcription	Fetal Heart	heart
5	chr4:7043800-7045800	Active TSS	Primary T cells from cord blood	blood
6	chr4:7043800-7046200	Active TSS	Hela-S3	cervix
7	chr4:7043800-7046400	Active TSS	Aorta	Aorta
8	chr4:7043800-7046400	Active TSS	Colon Smooth Muscle	Colon
9	chr4:7043800-7046400	Active TSS	Small Intestine	intestine
10	chr4:7043800-7046400	Active TSS	NHDF-Ad	bronchial
11	chr4:7043800-7046600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:7044000-7045600	Active TSS	Placenta Amnion	Placenta Amnion
13	chr4:7044000-7046000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:7044000-7046000	Active TSS	Brain Anterior Caudate	brain
15	chr4:7044000-7046000	Active TSS	Lung	lung
16	chr4:7044000-7046000	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr4:7044000-7046200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr4:7044000-7046200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:7044000-7046200	Active TSS	Fetal Intestine Small	intestine
20	chr4:7044000-7046200	Active TSS	Right Ventricle	heart
21	chr4:7044000-7046200	Active TSS	HSMM	muscle
22	chr4:7044000-7046400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:7044000-7046400	Active TSS	Brain Angular Gyrus	brain
24	chr4:7044000-7046400	Active TSS	Left Ventricle	heart
25	chr4:7044000-7046400	Active TSS	Rectal Smooth Muscle	rectum
26	chr4:7044000-7046400	Active TSS	Right Atrium	heart
27	chr4:7044000-7046600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:7044000-7046600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:7044000-7046600	Active TSS	Fetal Intestine Large	intestine
30	chr4:7044000-7046600	Active TSS	Gastric	stomach
31	chr4:7044200-7045400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:7044200-7045400	Active TSS	Adipose Nuclei	Adipose
33	chr4:7044200-7045400	Active TSS	Colonic Mucosa	Colon
34	chr4:7044200-7045400	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr4:7044200-7045400	Active TSS	HepG2	liver
36	chr4:7044200-7045600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:7044200-7045600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:7044200-7045600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:7044200-7045600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr4:7044200-7045600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:7044200-7045600	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr4:7044200-7045800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:7044200-7045800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:7044200-7045800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr4:7044200-7045800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:7044200-7045800	Active TSS	Primary B cells from peripheral blood	blood
47	chr4:7044200-7045800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:7044200-7045800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr4:7044200-7045800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:7044200-7045800	Active TSS	Primary T helper cells PMA-I stimulated	--

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