Variant report

Variant	esv3354435
Chromosome Location	chr18:43691954-43693652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr18:43693591-43694180	MCF-7	breast:	n/a	n/a
2	EP300	chr18:43693553-43694321	MCF-7	breast:	n/a	n/a
3	ESR1	chr18:43693603-43694102	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
4	ESR1	chr18:43693600-43694119	T-47D	breast:	n/a	chr18:43693900-43693915 chr18:43693925-43693940
5	FOXM1	chr18:43693597-43694204	MCF-7	breast:	n/a	n/a
6	GATA3	chr18:43693532-43694464	MCF-7	breast:	n/a	n/a
7	GATA3	chr18:43693637-43694052	T-47D	breast:	n/a	n/a
8	GATA3	chr18:43693502-43694394	MCF-7	breast:	n/a	n/a
9	NR2F2	chr18:43693616-43694299	MCF-7	breast:	n/a	n/a
10	POLR2A	chr18:43692089-43692362	K562	blood:	n/a	n/a
11	SIN3AK20	chr18:43693493-43694505	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr18:43693598-43694304	MCF-7	breast:	n/a	n/a
13	TCF12	chr18:43693579-43694284	MCF-7	breast:	n/a	n/a
14	TCF12	chr18:43693552-43694542	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 93 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151057644	chr18:43691996-43691997	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs142484826	chr18:43691998-43691999	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs573301392	chr18:43692027-43692028	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs542720720	chr18:43692093-43692094	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs545035804	chr18:43692094-43692095	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146353334	chr18:43692131-43692132	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182663043	chr18:43692140-43692141	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs28873516	chr18:43692203-43692204	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs28813155	chr18:43692204-43692205	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549721989	chr18:43692215-43692216	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187867123	chr18:43692242-43692243	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
12	rs375071401	chr18:43692245-43692246	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376749821	chr18:43692246-43692247	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111709462	chr18:43692275-43692276	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370602117	chr18:43692304-43692305	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs34972960	chr18:43692319-43692320	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs60301485	chr18:43692320-43692321	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12961786	chr18:43692321-43692322	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12962905	chr18:43692322-43692323	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs71373737	chr18:43692341-43692342	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs34043990	chr18:43692342-43692343	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs35381987	chr18:43692359-43692360	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs34020236	chr18:43692380-43692381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564728734	chr18:43692412-43692413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34493446	chr18:43692418-43692419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58609529	chr18:43692457-43692458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8090951	chr18:43692475-43692476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8092052	chr18:43692476-43692477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192164775	chr18:43692484-43692485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374542284	chr18:43692505-43692506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373982239	chr18:43692513-43692514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368179328	chr18:43692514-43692515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28508027	chr18:43692633-43692634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28719957	chr18:43692634-43692635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28872816	chr18:43692673-43692674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28857887	chr18:43692674-43692675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28825452	chr18:43692713-43692714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28867850	chr18:43692714-43692715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28859087	chr18:43692753-43692754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28823908	chr18:43692754-43692755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200904957	chr18:43692785-43692786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28852466	chr18:43692793-43692794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28794291	chr18:43692794-43692795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36167972	chr18:43692825-43692826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533437039	chr18:43692835-43692836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551704242	chr18:43692836-43692837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566703186	chr18:43692845-43692846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71364521	chr18:43692846-43692847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570345204	chr18:43692851-43692852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12607524	chr18:43692867-43692868	Weak transcription Strong transcription	n/a	n/a	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:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43693800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:43685000-43694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:43685000-43694400	Weak transcription	Esophagus	oesophagus
4	chr18:43685000-43694400	Weak transcription	Left Ventricle	heart
5	chr18:43685000-43707000	Weak transcription	Spleen	Spleen
6	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
7	chr18:43685200-43693800	Weak transcription	Aorta	Aorta
8	chr18:43685200-43696800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:43685200-43704200	Weak transcription	Psoas Muscle	Psoas
10	chr18:43685200-43704800	Weak transcription	Placenta	Placenta
11	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
12	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
14	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:43685400-43693200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr18:43685400-43693200	Weak transcription	Fetal Lung	lung
18	chr18:43685400-43693200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:43685400-43693400	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:43685400-43693400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr18:43685400-43693400	Weak transcription	HSMM	muscle
22	chr18:43685400-43693600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr18:43685400-43693600	Weak transcription	NH-A	brain
24	chr18:43685400-43693800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:43685400-43693800	Weak transcription	Adipose Nuclei	Adipose
26	chr18:43685400-43693800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr18:43685400-43693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr18:43685400-43693800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:43685400-43693800	Weak transcription	HSMMtube	muscle
30	chr18:43685400-43694200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr18:43685400-43694200	Weak transcription	NHLF	lung
32	chr18:43685400-43694400	Weak transcription	Lung	lung
33	chr18:43685400-43694400	Weak transcription	Ovary	ovary
34	chr18:43685400-43702200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr18:43685400-43702200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr18:43685400-43703600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:43685400-43704200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr18:43685400-43704800	Weak transcription	Brain Substantia Nigra	brain
39	chr18:43685400-43704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:43685400-43708200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr18:43685400-43709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
43	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
47	chr18:43685400-43717200	Weak transcription	HepG2	liver
48	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
50	chr18:43685600-43694400	Weak transcription	Osteobl	bone

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