Variant report

Variant	rs7666504
Chromosome Location	chr4:7069441-7069442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr4:7069034-7070363	HepG2	liver:	n/a	n/a
2	MAX	chr4:7068899-7070445	A549	lung:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
3	CBX3	chr4:7068993-7069501	K562	blood:	n/a	n/a
4	POLR2A	chr4:7068889-7069950	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:7069040-7070482	U87	brain:	n/a	n/a
6	YY1	chr4:7069313-7070425	ECC-1	luminal epithelium:	n/a	chr4:7070266-7070275 chr4:7069935-7069949
7	POLR2A	chr4:7069408-7070411	GM12878	blood:	n/a	n/a
8	MAX	chr4:7068991-7070187	A549	lung:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
9	RUNX3	chr4:7069011-7070552	GM12878	blood:	n/a	n/a
10	USF2	chr4:7069085-7070137	GM12878	blood:	n/a	chr4:7069443-7069459
11	USF2	chr4:7069047-7069540	H1-hESC	embryonic stem cell:	n/a	chr4:7069443-7069459
12	POLR2A	chr4:7069094-7069506	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr4:7069384-7070467	MCF-7	breast:	n/a	n/a
14	MAX	chr4:7068828-7070381	Hela-S3	cervix:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
15	STAT5A	chr4:7069413-7069954	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:7069051-7070324	HepG2	liver:	n/a	n/a
17	ELF1	chr4:7069276-7070132	K562	blood:	n/a	chr4:7069866-7069877 chr4:7069864-7069877
18	SIN3AK20	chr4:7068932-7070451	K562	blood:	n/a	n/a
19	MYC	chr4:7069148-7069828	K562	blood:	n/a	chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
20	MAX	chr4:7069279-7069968	H1-hESC	embryonic stem cell:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
21	MAX	chr4:7068940-7070285	MCF-7	breast:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
22	RUNX3	chr4:7068912-7069626	GM12878	blood:	n/a	n/a
23	ELF1	chr4:7069011-7070512	GM12878	blood:	n/a	chr4:7069866-7069877 chr4:7069864-7069877
24	POLR2A	chr4:7069332-7069936	A549	lung:	n/a	n/a
25	TAF1	chr4:7069356-7070461	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr4:7069243-7069570	GM12878	blood:	n/a	chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
27	POLR2A	chr4:7069105-7070997	K562	blood:	n/a	n/a
28	UBTF	chr4:7069041-7071215	K562	blood:	n/a	n/a
29	MYC	chr4:7069339-7069492	MCF-7	breast:	n/a	chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
30	CTCF	chr4:7069305-7069471	GM19239	blood:	n/a	n/a
31	RCOR1	chr4:7068979-7070930	K562	blood:	n/a	n/a
32	POLR2A	chr4:7068354-7070270	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:7069025-7069456	Hela-S3	cervix:	n/a	n/a
34	MYBL2	chr4:7069114-7069491	HepG2	liver:	n/a	n/a
35	MAX	chr4:7068942-7070946	K562	blood:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7070769-7070776 chr4:7069413-7069422 chr4:7070769-7070779 chr4:7069407-7069422 chr4:7069411-7069420 chr4:7070769-7070778
36	SIN3AK20	chr4:7069147-7070502	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr4:7069175-7070389	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr4:7069300-7069450	AG09319	gingival:	n/a	n/a
39	POLR2A	chr4:7068949-7070486	GM12892	blood:	n/a	n/a
40	MXI1	chr4:7068858-7070346	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr4:7069300-7069450	GM12865	blood:	n/a	n/a
42	E2F6	chr4:7069177-7070002	A549	lung:	n/a	n/a
43	HA-E2F1	chr4:7069158-7070755	MCF-7	breast:	n/a	chr4:7070387-7070397
44	GABPA	chr4:7069284-7070258	K562	blood:	n/a	chr4:7069409-7069418 chr4:7069938-7069947 chr4:7070155-7070164 chr4:7069476-7069485
45	MXI1	chr4:7069304-7070815	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr4:7069120-7070951	K562	blood:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7070769-7070776 chr4:7069413-7069422 chr4:7070769-7070779 chr4:7069407-7069422 chr4:7069411-7069420 chr4:7070769-7070778
47	MAX	chr4:7069081-7070129	H1-hESC	embryonic stem cell:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
48	TAF1	chr4:7069227-7070583	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr4:7068783-7071023	A549	lung:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7070769-7070776 chr4:7069413-7069422 chr4:7070769-7070779 chr4:7069407-7069422 chr4:7069411-7069420 chr4:7070769-7070778
50	CHD2	chr4:7069205-7069492	HepG2	liver:	n/a	chr4:7069376-7069386

No.	Distal block	Cell Line	Cell type
1	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
2	chr4:6674717..6677154-chr4:7068478..7072724,3	K562	blood:
3	chr4:6781737..6784394-chr4:7068714..7070665,2	MCF-7	breast:
4	chr4:6910032..6912660-chr4:7068559..7071678,6	MCF-7	breast:
5	chr4:6987263..6989293-chr4:7068529..7070966,2	MCF-7	breast:
6	chr4:7058331..7067210-chr4:7067664..7073138,15	MCF-7	breast:
7	chr4:6576606..6578817-chr4:7068578..7071548,2	K562	blood:
8	chr4:7044811..7045632-chr4:7069385..7070353,2	NB4	blood:
9	chr4:6988789..6991540-chr4:7069432..7071324,2	MCF-7	breast:
10	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
11	chr4:6908374..6913659-chr4:7068343..7071782,10	MCF-7	breast:
12	chr4:6909455..6913239-chr4:7065910..7071137,7	K562	blood:
13	chr4:7069432..7070054-chr6:31774394..31775201,2	HCT-116	colon:
14	chr4:7052919..7061052-chr4:7065851..7072132,10	MCF-7	breast:

Variant related genes	Relation type
GRPEL1	TF binding region
ENSG00000251580	Chromatin interaction
ENSG00000170846	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000245748	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000013288	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10012093	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10937781	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13113578	1.00[EUR][1000 genomes]
rs3951347	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4513569	1.00[EUR][1000 genomes]
rs4689062	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4689063	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4689582	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4689588	1.00[EUR][1000 genomes]
rs62291193	0.85[EUR][1000 genomes]
rs62291194	0.85[EUR][1000 genomes]
rs62291195	0.85[EUR][1000 genomes]
rs62291196	0.85[EUR][1000 genomes]
rs6814746	1.00[EUR][1000 genomes]
rs6832413	0.90[EUR][1000 genomes]
rs6841824	0.90[EUR][1000 genomes]
rs6849547	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7699619	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs871133	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs907522	1.00[EUR][1000 genomes]
rs907524	1.00[EUR][1000 genomes]
rs907525	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9985704	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7068000-7070600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:7068000-7070600	Active TSS	Psoas Muscle	Psoas
3	chr4:7068200-7070600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:7068400-7069800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr4:7068400-7070400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:7068400-7070400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:7068400-7070600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:7068400-7071000	Active TSS	A549	lung
9	chr4:7068600-7069800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr4:7068600-7069800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:7068600-7069800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:7068600-7070000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:7068600-7070200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7068600-7070400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr4:7068600-7070400	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr4:7068600-7070400	Active TSS	GM12878-XiMat	blood
17	chr4:7068600-7070400	Active TSS	HMEC	breast
18	chr4:7068600-7070600	Active TSS	Right Atrium	heart
19	chr4:7068600-7070800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr4:7068600-7070800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:7068600-7070800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:7068600-7070800	Active TSS	Right Ventricle	heart
23	chr4:7068800-7070400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:7068800-7070400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:7068800-7070400	Active TSS	Hela-S3	cervix
26	chr4:7068800-7070600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:7068800-7070600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:7068800-7070600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:7068800-7070600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:7068800-7070600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:7068800-7070600	Active TSS	Lung	lung
32	chr4:7068800-7070600	Active TSS	Pancreas	Pancrea
33	chr4:7068800-7070600	Active TSS	HSMM	muscle
34	chr4:7068800-7070600	Active TSS	HSMMtube	muscle
35	chr4:7068800-7070600	Active TSS	NHDF-Ad	bronchial
36	chr4:7068800-7070800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:7068800-7070800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:7068800-7070800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:7068800-7070800	Active TSS	Aorta	Aorta
40	chr4:7068800-7070800	Active TSS	Gastric	stomach
41	chr4:7068800-7071000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr4:7069000-7070200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr4:7069000-7070200	Active TSS	NHEK	skin
44	chr4:7069000-7070400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr4:7069000-7070400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:7069000-7070400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:7069000-7070400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:7069000-7070400	Active TSS	Liver	Liver
49	chr4:7069000-7070400	Active TSS	Fetal Muscle Leg	muscle
50	chr4:7069000-7070600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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