Variant report

Variant	nsv961135
Chromosome Location	chr18:29007437-29010879
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	E2F4	chr18:29009647-29009811	MCF10A-Er-Src	breast:	n/a	n/a
2	ELF1	chr18:29009479-29010084	HCT-116	colon:	n/a	chr18:29009818-29009831 chr18:29009819-29009830
3	ELF1	chr18:29009452-29010150	HCT-116	colon:	n/a	chr18:29009818-29009831 chr18:29009819-29009830
4	ELF1	chr18:29008141-29008758	MCF-7	breast:	n/a	n/a
5	ELF1	chr18:29009590-29010002	K562	blood:	n/a	chr18:29009818-29009831 chr18:29009819-29009830
6	FOS	chr18:29009612-29009917	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr18:29009626-29009876	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr18:29009671-29009952	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA1	chr18:29008236-29008488	T-47D	breast:	n/a	n/a
10	GABPA	chr18:29008231-29008628	MCF-7	breast:	n/a	n/a
11	GATA3	chr18:29008167-29008584	MCF-7	breast:	n/a	chr18:29008445-29008455
12	GATA3	chr18:29007947-29008769	MCF-7	breast:	n/a	chr18:29008445-29008455
13	GATA3	chr18:29008225-29008584	T-47D	breast:	n/a	chr18:29008445-29008455
14	GATA3	chr18:29008165-29008643	MCF-7	breast:	n/a	chr18:29008445-29008455
15	GATA3	chr18:29008254-29008557	T-47D	breast:	n/a	chr18:29008445-29008455
16	MAX	chr18:29008176-29008596	MCF-7	breast:	n/a	n/a
17	MAZ	chr18:29009737-29009908	K562	blood:	n/a	chr18:29009761-29009771
18	MYC	chr18:29009689-29009820	MCF10A-Er-Src	breast:	n/a	chr18:29009761-29009771
19	POLR2A	chr18:29009533-29010007	HCT-116	colon:	n/a	n/a
20	POLR2A	chr18:29009728-29009771	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr18:29009442-29010012	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr18:29009644-29010003	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr18:29009788-29009995	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr18:29009651-29010029	HCT-116	colon:	n/a	n/a
25	POLR2A	chr18:29009649-29009925	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr18:29009669-29009868	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr18:29008167-29008699	MCF-7	breast:	n/a	n/a
28	SMC3	chr18:29009909-29009922	Hela-S3	cervix:	n/a	n/a
29	SPI1	chr18:29010537-29010811	GM12891	blood:	n/a	n/a
30	SPI1	chr18:29010555-29010803	GM12891	blood:	n/a	n/a
31	STAT3	chr18:29009548-29009896	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr18:29009466-29009927	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr18:29009606-29009876	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29007636..29009624-chr18:29016577..29018951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266729	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12968913	chr18:29007437-29007438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12969023	chr18:29007440-29007441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567352444	chr18:29007450-29007451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189663030	chr18:29007479-29007480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11874926	chr18:29007490-29007491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531111979	chr18:29007518-29007519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549139782	chr18:29007519-29007520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567365197	chr18:29007523-29007524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191482683	chr18:29007532-29007533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184367790	chr18:29007535-29007536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56063914	chr18:29007536-29007537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs367743179	chr18:29007553-29007554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79155618	chr18:29007587-29007588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188896962	chr18:29007590-29007591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575128797	chr18:29007595-29007596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140788624	chr18:29007644-29007645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369660225	chr18:29007686-29007687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150101582	chr18:29007696-29007697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374087088	chr18:29007699-29007700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73412210	chr18:29007738-29007739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559511030	chr18:29007777-29007778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182030899	chr18:29007791-29007792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138837724	chr18:29007818-29007819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141377082	chr18:29007819-29007820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35790424	chr18:29007822-29007823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56866351	chr18:29007878-29007879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146982954	chr18:29007902-29007903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561427354	chr18:29007957-29007958	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs528188697	chr18:29008023-29008024	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs187106792	chr18:29008041-29008042	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138222455	chr18:29008047-29008048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556821081	chr18:29008057-29008058	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533184201	chr18:29008061-29008062	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189595772	chr18:29008094-29008095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551309621	chr18:29008131-29008132	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs371251649	chr18:29008137-29008138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575187357	chr18:29008146-29008147	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550510109	chr18:29008148-29008149	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149532696	chr18:29008153-29008154	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs536103967	chr18:29008168-29008169	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554361757	chr18:29008217-29008218	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs141684014	chr18:29008222-29008223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs566632102	chr18:29008247-29008248	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559602911	chr18:29008255-29008256	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534834764	chr18:29008261-29008262	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553417206	chr18:29008366-29008367	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs556668751	chr18:29008383-29008384	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs141537284	chr18:29008389-29008390	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs148079972	chr18:29008392-29008393	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs532806183	chr18:29008400-29008401	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29004400-29008200	Weak transcription	Stomach Mucosa	stomach
2	chr18:29004400-29009200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:29006600-29010600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr18:29007200-29007800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:29007200-29008800	Weak transcription	HMEC	breast
6	chr18:29007200-29010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:29007400-29008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:29007400-29010800	Enhancers	NHEK	skin
9	chr18:29007800-29008200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:29008200-29010600	Enhancers	Stomach Mucosa	stomach
11	chr18:29008200-29010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:29008400-29009800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:29008400-29010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:29008800-29009600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:29008800-29010600	Enhancers	HMEC	breast
16	chr18:29009000-29009400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:29009000-29010400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr18:29009200-29009400	Enhancers	Small Intestine	intestine
19	chr18:29009200-29010200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr18:29009200-29010200	Enhancers	Fetal Intestine Large	intestine
21	chr18:29009200-29010400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr18:29009200-29010600	Enhancers	Hela-S3	cervix
23	chr18:29009400-29009800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:29009400-29010400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr18:29009600-29010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:29009800-29010200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr18:29009800-29010400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:29010000-29010200	Enhancers	Small Intestine	intestine
29	chr18:29010200-29010400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:29010600-29012200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:29010800-29019800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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