Variant report

Variant	esv3380140
Chromosome Location	chr18:43690954-43694252
allele	n/a
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	CEBPB	chr18:43693747-43694036	MCF-7	breast:	n/a	n/a
2	EP300	chr18:43693553-43694321	MCF-7	breast:	n/a	n/a
3	EP300	chr18:43693591-43694180	MCF-7	breast:	n/a	n/a
4	ESR1	chr18:43693603-43694102	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
5	ESR1	chr18:43693683-43694157	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
6	ESR1	chr18:43693600-43694119	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
7	ESR1	chr18:43693690-43694213	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
8	ESR1	chr18:43693668-43694277	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
9	ESR1	chr18:43693702-43694064	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
10	FOXM1	chr18:43693597-43694204	MCF-7	breast:	n/a	n/a
11	FOXM1	chr18:43693687-43694175	MCF-7	breast:	n/a	n/a
12	GATA3	chr18:43693637-43694052	T-47D	breast:	n/a	n/a
13	GATA3	chr18:43693502-43694394	MCF-7	breast:	n/a	n/a
14	GATA3	chr18:43693532-43694464	MCF-7	breast:	n/a	n/a
15	GATA3	chr18:43693730-43694281	MCF-7	breast:	n/a	n/a
16	GATA3	chr18:43693760-43694296	MCF-7	breast:	n/a	n/a
17	HDAC2	chr18:43693722-43694097	MCF-7	breast:	n/a	n/a
18	IRF1	chr18:43694039-43694164	K562	blood:	n/a	n/a
19	MAX	chr18:43694043-43694072	HepG2	liver:	n/a	n/a
20	NR2F2	chr18:43693616-43694299	MCF-7	breast:	n/a	n/a
21	NR2F2	chr18:43693682-43694364	MCF-7	breast:	n/a	n/a
22	POLR2A	chr18:43692089-43692362	K562	blood:	n/a	n/a
23	SIN3AK20	chr18:43693493-43694505	MCF-7	breast:	n/a	n/a
24	SIN3AK20	chr18:43693598-43694304	MCF-7	breast:	n/a	n/a
25	SPI1	chr18:43693705-43694082	HL-60	blood:	n/a	n/a
26	SPI1	chr18:43693854-43693993	K562	blood:	n/a	n/a
27	TCF12	chr18:43693552-43694542	MCF-7	breast:	n/a	n/a
28	TCF12	chr18:43693579-43694284	MCF-7	breast:	n/a	n/a
29	TCF7L2	chr18:43693777-43694306	MCF-7	breast:	n/a	n/a
30	TEAD4	chr18:43693688-43694142	MCF-7	breast:	n/a	n/a
31	TEAD4	chr18:43693757-43694091	MCF-7	breast:	n/a	n/a
32	ZNF217	chr18:43693721-43694236	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:43693585..43694244-chr18:43853397..43854145,2	MCF-7	breast:
2	chr18:43693530..43694324-chr18:43955585..43956477,2	MCF-7	breast:
3	chr18:43382304..43383428-chr18:43693409..43694393,6	MCF-7	breast:
4	chr18:43693313..43695654-chr18:43701254..43702868,2	MCF-7	breast:
5	chr18:43693794..43694379-chr18:43853567..43854326,2	MCF-7	breast:
6	chr18:43438461..43439020-chr18:43693544..43694235,3	MCF-7	breast:
7	chr18:43438461..43439020-chr18:43693544..43694132,2	MCF-7	breast:
8	chr18:43693592..43694379-chr18:43853310..43854326,4	MCF-7	breast:
9	chr18:43382345..43383228-chr18:43693413..43694665,9	MCF-7	breast:
10	chr18:43382345..43383220-chr18:43693927..43694665,4	MCF-7	breast:

Variant related genes	Relation type
HAUS1	TF binding region
ENSG00000251939	chromatin interactions
ENSG00000152223	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539677392	chr18:43690984-43690985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140176088	chr18:43691029-43691030	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549133912	chr18:43691035-43691036	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112780296	chr18:43691044-43691045	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540339033	chr18:43691046-43691047	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555468062	chr18:43691057-43691058	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574027547	chr18:43691060-43691061	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191976122	chr18:43691085-43691086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565650316	chr18:43691129-43691130	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183139447	chr18:43691133-43691134	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534296729	chr18:43691220-43691221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551364575	chr18:43691287-43691288	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186044945	chr18:43691322-43691323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545198216	chr18:43691344-43691345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560390497	chr18:43691352-43691353	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573034744	chr18:43691360-43691361	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145867624	chr18:43691476-43691477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560715898	chr18:43691479-43691480	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531364405	chr18:43691485-43691486	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs4260155	chr18:43691499-43691500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs556727478	chr18:43691511-43691512	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370550847	chr18:43691527-43691528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573532843	chr18:43691579-43691580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs142941408	chr18:43691630-43691631	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201409657	chr18:43691641-43691642	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551520472	chr18:43691654-43691655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs566764523	chr18:43691719-43691720	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534027033	chr18:43691730-43691731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555859918	chr18:43691740-43691741	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573938282	chr18:43691781-43691782	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs538206599	chr18:43691827-43691828	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370593835	chr18:43691852-43691853	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs190417104	chr18:43691856-43691857	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112153271	chr18:43691867-43691868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577966441	chr18:43691892-43691893	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199892682	chr18:43691904-43691905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs151057644	chr18:43691996-43691997	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs142484826	chr18:43691998-43691999	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs573301392	chr18:43692027-43692028	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs542720720	chr18:43692093-43692094	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs545035804	chr18:43692094-43692095	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs146353334	chr18:43692131-43692132	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs182663043	chr18:43692140-43692141	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs28873516	chr18:43692203-43692204	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs28813155	chr18:43692204-43692205	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs549721989	chr18:43692215-43692216	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs187867123	chr18:43692242-43692243	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs375071401	chr18:43692245-43692246	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs376749821	chr18:43692246-43692247	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111709462	chr18:43692275-43692276	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43691200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:43685000-43693800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:43685000-43694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:43685000-43694400	Weak transcription	Esophagus	oesophagus
5	chr18:43685000-43694400	Weak transcription	Left Ventricle	heart
6	chr18:43685000-43707000	Weak transcription	Spleen	Spleen
7	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
8	chr18:43685200-43691000	Weak transcription	Right Atrium	heart
9	chr18:43685200-43693800	Weak transcription	Aorta	Aorta
10	chr18:43685200-43696800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:43685200-43704200	Weak transcription	Psoas Muscle	Psoas
12	chr18:43685200-43704800	Weak transcription	Placenta	Placenta
13	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
14	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
16	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr18:43685400-43693200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:43685400-43693200	Weak transcription	Fetal Lung	lung
20	chr18:43685400-43693200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:43685400-43693400	Weak transcription	Brain Hippocampus Middle	brain
22	chr18:43685400-43693400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr18:43685400-43693400	Weak transcription	HSMM	muscle
24	chr18:43685400-43693600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:43685400-43693600	Weak transcription	NH-A	brain
26	chr18:43685400-43693800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:43685400-43693800	Weak transcription	Adipose Nuclei	Adipose
28	chr18:43685400-43693800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr18:43685400-43693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr18:43685400-43693800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:43685400-43693800	Weak transcription	HSMMtube	muscle
32	chr18:43685400-43694200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr18:43685400-43694200	Weak transcription	NHLF	lung
34	chr18:43685400-43694400	Weak transcription	Lung	lung
35	chr18:43685400-43694400	Weak transcription	Ovary	ovary
36	chr18:43685400-43702200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr18:43685400-43702200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr18:43685400-43703600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr18:43685400-43704200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr18:43685400-43704800	Weak transcription	Brain Substantia Nigra	brain
41	chr18:43685400-43704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:43685400-43708200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:43685400-43709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
45	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
49	chr18:43685400-43717200	Weak transcription	HepG2	liver
50	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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