Variant report

Variant	rs578186989
Chromosome Location	chr7:56119481-56119482
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	MYC	chr7:56118980-56119622	GM12878	blood:	n/a	n/a
2	TAF1	chr7:56118735-56120080	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYB	chr7:56119062-56119839	K562	blood:	n/a	chr7:56119364-56119379 chr7:56119367-56119382 chr7:56119367-56119382 chr7:56119367-56119381
4	ELF1	chr7:56118862-56119583	K562	blood:	n/a	chr7:56119407-56119416 chr7:56118901-56118913
5	CEBPD	chr7:56118827-56119742	K562	blood:	n/a	n/a
6	POLR2A	chr7:56117687-56123706	K562	blood:	n/a	n/a
7	POLR2A	chr7:56118628-56120157	Hela-S3	cervix:	n/a	n/a
8	TCF7L2	chr7:56118940-56120051	PANC-1	pancreas:	n/a	n/a
9	CREB1	chr7:56118715-56119821	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:56117567-56120230	Raji	blood:	n/a	n/a
11	ELK1	chr7:56118748-56119675	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:56118756-56119890	H1-neurons	neurons:	n/a	n/a
13	CREB1	chr7:56118807-56119811	GM12878	blood:	n/a	n/a
14	YY1	chr7:56118777-56120058	SK-N-SH	brain:	n/a	chr7:56119759-56119768 chr7:56119771-56119782 chr7:56119407-56119416
15	SIN3AK20	chr7:56119369-56119620	SK-N-SH	brain:	n/a	n/a
16	MYC	chr7:56118137-56120255	K562	blood:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
17	HA-E2F1	chr7:56118806-56120192	MCF-7	breast:	n/a	chr7:56119410-56119419 chr7:56119488-56119497 chr7:56119759-56119768 chr7:56119903-56119915 chr7:56119188-56119198 chr7:56118880-56118889
18	POLR2A	chr7:56118705-56119759	U87	brain:	n/a	n/a
19	HEY1	chr7:56118694-56119750	K562	blood:	n/a	chr7:56119411-56119426 chr7:56119188-56119203
20	POU2F2	chr7:56118818-56119612	GM12891	blood:	n/a	chr7:56118872-56118893
21	POLR2A	chr7:56118743-56120201	Hela-S3	cervix:	n/a	n/a
22	FOXM1	chr7:56118621-56119651	GM12878	blood:	n/a	n/a
23	RUNX3	chr7:56118728-56119743	GM12878	blood:	n/a	n/a
24	YY1	chr7:56119075-56119890	K562	blood:	n/a	chr7:56119759-56119768 chr7:56119771-56119782 chr7:56119407-56119416
25	ELF1	chr7:56118885-56119719	MCF-7	breast:	n/a	chr7:56119407-56119416 chr7:56118901-56118913
26	POLR2A	chr7:56118887-56120405	GM12878	blood:	n/a	n/a
27	EGR1	chr7:56118969-56119675	GM12878	blood:	n/a	chr7:56119208-56119218
28	GATA1	chr7:56118200-56120092	PBDE	blood:	n/a	chr7:56118266-56118275
29	HDAC2	chr7:56118850-56119665	HepG2	liver:	n/a	n/a
30	FOS	chr7:56119107-56119576	K562	blood:	n/a	n/a
31	POLR2A	chr7:56118793-56120035	MCF-7	breast:	n/a	n/a
32	YY1	chr7:56119406-56119644	A549	lung:	n/a	chr7:56119407-56119416
33	USF1	chr7:56119109-56119579	H1-hESC	embryonic stem cell:	n/a	n/a
34	STAT1	chr7:56118985-56119787	GM12878	blood:	n/a	n/a
35	MYC	chr7:56118352-56119882	H1-hESC	embryonic stem cell:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
36	NFIC	chr7:56118826-56119717	GM12878	blood:	n/a	n/a
37	TAF1	chr7:56119010-56119720	MCF-7	breast:	n/a	n/a
38	POLR2A	chr7:56117590-56120711	K562	blood:	n/a	n/a
39	POLR2A	chr7:56118022-56120418	K562	blood:	n/a	n/a
40	USF1	chr7:56119106-56119515	SK-N-SH_RA	brain:	n/a	n/a
41	TAF1	chr7:56118898-56119642	GM12892	blood:	n/a	n/a
42	MAX	chr7:56118847-56119758	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF12	chr7:56119340-56119597	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr7:56118926-56119873	ECC-1	luminal epithelium:	n/a	chr7:56119479-56119495 chr7:56119379-56119388 chr7:56119488-56119497
45	GABPA	chr7:56118990-56119819	SK-N-SH	brain:	n/a	chr7:56119379-56119388 chr7:56119209-56119218
46	NFYB	chr7:56119028-56119805	GM12878	blood:	n/a	chr7:56119364-56119379 chr7:56119367-56119382 chr7:56119367-56119382 chr7:56119367-56119381
47	ATF2	chr7:56118748-56119546	GM12878	blood:	n/a	n/a
48	GATA3	chr7:56118707-56119880	A549	lung:	n/a	n/a
49	POLR2A	chr7:56118394-56120226	GM18951	blood:	n/a	n/a
50	TCF7L2	chr7:56118920-56119928	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56119448-56119498	MCF10A-Er-Src	breast:	n/a
2	chr7:56119448-56119498	HL-60	blood:	n/a
3	chr7:56119448-56119498	PFSK-1	brain:	n/a
4	chr7:56119448-56119498	HRE	kidney:	n/a
5	chr7:56119448-56119498	GM19239	blood:	n/a
6	chr7:56119448-56119498	AG09319	gingival:	n/a
7	chr7:56119448-56119498	HIPEpiC	eye:	n/a
8	chr7:56119448-56119498	GM06990	blood:	n/a
9	chr7:56119448-56119498	ProgFib	skin:	n/a
10	chr7:56119448-56119498	GM12878	blood:	n/a
11	chr7:56119448-56119498	HMEC	breast:	n/a
12	chr7:56119448-56119498	Hela-S3	cervix:	n/a
13	chr7:56119448-56119498	T-47D	breast:	n/a
14	chr7:56119448-56119498	AG09309	skin:	n/a
15	chr7:56119448-56119498	HepG2	liver:	n/a
16	chr7:56119448-56119498	HUVEC	blood vessel:	n/a
17	chr7:56119448-56119498	AG10803	skin:	n/a
18	chr7:56119448-56119498	HEK293	kidney:	embryo
19	chr7:56119448-56119498	MCF-7	breast:	n/a
20	chr7:56119448-56119498	AoSMC	blood vessel:	n/a
21	chr7:56119448-56119498	SKMC	muscle:	n/a
22	chr7:56119448-56119498	HCM	heart:	n/a
23	chr7:56119448-56119498	RPTEC	kidney:	n/a
24	chr7:56119448-56119498	Caco-2	colon:	n/a
25	chr7:56119448-56119498	HRPEpiC	eye:	n/a
26	chr7:56119448-56119498	SK-N-SH	brain:	n/a
27	chr7:56119448-56119498	GM12892	blood:	n/a
28	chr7:56119448-56119498	HAEpiC	amniotic membrane:	n/a
29	chr7:56119448-56119498	BJ	skin:	n/a
30	chr7:56119448-56119498	ovcar-3	ovarian:	n/a
31	chr7:56119448-56119498	NHBE	bronchial:	n/a
32	chr7:56119448-56119498	A549	lung:	n/a
33	chr7:56119448-56119498	Jurkat	blood:	n/a
34	chr7:56119448-56119498	GM12891	blood:	n/a
35	chr7:56119448-56119498	CMK	blood:	n/a
36	chr7:56119448-56119498	SK-N-SH_RA	brain:	n/a
37	chr7:56119448-56119498	IMR90	lung:	fetal
38	chr7:56119448-56119498	LNCaP	prostate:	n/a
39	chr7:56119448-56119498	HRCEpiC	kidney:	n/a
40	chr7:56119448-56119498	AG04450	lung:	fetal
41	chr7:56119448-56119498	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:56119448-56119498	U87	brain:	n/a
43	chr7:56119448-56119498	NHDF-neo	bronchial:	n/a
44	chr7:56119448-56119498	NB4	blood:	n/a
45	chr7:56119448-56119498	HCPEpiC	choroid plexus:	n/a
46	chr7:56119448-56119498	AG04449	skin:	fetal
47	chr7:56119448-56119498	HNPCEpiC	eye:	n/a
48	chr7:56119448-56119498	HCT-116	colon:	n/a
49	chr7:56119448-56119498	SK-N-MC	brain:	n/a
50	chr7:56119448-56119498	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56118943..56119510-chr7:65215074..65216153,3	Hela-S3	cervix:
2	chr3:186523877..186524772-chr7:56119015..56120011,2	Hela-S3	cervix:
3	chr19:55918439..55919275-chr7:56118681..56119907,3	Hela-S3	cervix:
4	chr7:56119066..56119592-chr7:65215980..65216673,2	NB4	blood:
5	chr19:3500163..3500899-chr7:56119453..56120020,2	Hela-S3	cervix:
6	chr7:56117578..56119708-chr7:56126304..56127920,2	MCF-7	breast:
7	chr7:56119419..56122353-chr8:107669214..107670843,2	MCF-7	breast:
8	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
9	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
10	chr17:56084186..56084964-chr7:56118754..56119681,2	Hela-S3	cervix:
11	chr7:56117123..56123487-chr7:56128716..56133468,11	MCF-7	breast:
12	chr14:51410955..51411649-chr7:56119028..56119812,2	Hela-S3	cervix:
13	chr12:48213573..48214228-chr7:56119167..56120010,2	Hela-S3	cervix:
14	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:
15	chr7:56100095..56103801-chr7:56117179..56120388,5	K562	blood:
16	chr7:56100273..56103332-chr7:56118092..56121325,5	MCF-7	breast:
17	chr19:17325956..17326501-chr7:56118944..56119671,2	Hela-S3	cervix:

Variant related genes	Relation type
PSPH	TF binding region
CCT6A	TF binding region
ENSG00000206603	TF binding region
ENSG00000206603	CpG island
PSPH	CpG island
CCT6A	CpG island
ENSG00000164830	Chromatin interaction
ENSG00000228409	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000253582	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000129932	Chromatin interaction
ENSG00000100504	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000146733	Chromatin interaction
ENSG00000163918	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000136450	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	esv3425362	chr7:56118483-56121331	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr7:56117600-56120000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:56117800-56120200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:56117800-56120200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:56117800-56120600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:56117800-56120600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:56117800-56120600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:56118000-56119600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:56118000-56120000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:56118000-56120200	Active TSS	NHEK	skin
10	chr7:56118000-56120600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:56118000-56120600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:56118000-56120600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:56118000-56120600	Active TSS	Colonic Mucosa	Colon
14	chr7:56118000-56120600	Active TSS	A549	lung
15	chr7:56118000-56120600	Active TSS	HSMM	muscle
16	chr7:56118000-56120800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:56118000-56120800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:56118000-56121000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:56118200-56119800	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:56118200-56119800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:56118200-56120000	Active TSS	HepG2	liver
22	chr7:56118200-56120200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:56118200-56120200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:56118200-56120200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:56118200-56120400	Active TSS	Fetal Intestine Large	intestine
26	chr7:56118200-56120600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:56118200-56120600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:56118200-56120600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:56118200-56120600	Active TSS	Psoas Muscle	Psoas
30	chr7:56118200-56120600	Active TSS	HMEC	breast
31	chr7:56118200-56120600	Active TSS	K562	blood
32	chr7:56118200-56120800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:56118200-56120800	Active TSS	HSMMtube	muscle
34	chr7:56118400-56119800	Active TSS	Thymus	Thymus
35	chr7:56118400-56119800	Active TSS	Dnd41	blood
36	chr7:56118400-56120000	Active TSS	Brain Angular Gyrus	brain
37	chr7:56118400-56120000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:56118400-56120000	Active TSS	Duodenum Mucosa	Duodenum
39	chr7:56118400-56120000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:56118400-56120000	Active TSS	Fetal Lung	lung
41	chr7:56118400-56120000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:56118400-56120000	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:56118400-56120200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr7:56118400-56120200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:56118400-56120200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr7:56118400-56120200	Active TSS	Fetal Stomach	stomach
47	chr7:56118400-56120200	Active TSS	Stomach Mucosa	stomach
48	chr7:56118400-56120200	Active TSS	Hela-S3	cervix
49	chr7:56118400-56120400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr7:56118400-56120400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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