Variant report

Variant	nsv523468
Chromosome Location	chr7:18935767-18939200
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	EP300	chr7:18935916-18936372	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr7:18935894-18936350	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr7:18934743-18936494	SK-N-SH	brain:	n/a	n/a
4	EP300	chr7:18928046-18935809	SK-N-SH	brain:	n/a	chr7:18930351-18930360 chr7:18929205-18929219 chr7:18928386-18928400 chr7:18930389-18930399
5	GATA3	chr7:18934505-18936557	SK-N-SH	brain:	n/a	chr7:18935242-18935258
6	GATA3	chr7:18937981-18938555	SK-N-SH	brain:	n/a	chr7:18938269-18938290
7	MAZ	chr7:18938044-18938085	HepG2	liver:	n/a	n/a
8	PBX3	chr7:18934649-18935774	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:18937552-18937633	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:18935927-18936322	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:18936474-18936674	MCF10A-Er-Src	breast:	n/a	n/a
12	TAF1	chr7:18935987-18936163	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr7:18934578-18935854	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr7:18935855-18936486	SK-N-SH	brain:	n/a	n/a
15	TCF7L2	chr7:18935952-18936347	HCT-116	colon:	n/a	chr7:18936130-18936146 chr7:18936135-18936142 chr7:18936131-18936145 chr7:18936130-18936146 chr7:18936133-18936142 chr7:18936132-18936142
16	TCF7L2	chr7:18935971-18936326	HEK293	kidney:	n/a	chr7:18936130-18936146 chr7:18936135-18936142 chr7:18936131-18936145 chr7:18936130-18936146 chr7:18936133-18936142 chr7:18936132-18936142

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TWIST1-2	chr7:18938932-18939056	ENSG00000226522.1

Variant related genes	Relation type
ENSG00000226522	TF binding region

Extended variants
information (count: 147 )
Associated
traits (count: 87 )

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	rs10486318	chr7:18935767-18935768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116683619	chr7:18935768-18935769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531266088	chr7:18935785-18935786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113064426	chr7:18935794-18935795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571074788	chr7:18935803-18935804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534669422	chr7:18935950-18935951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568014557	chr7:18935953-18935954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546385126	chr7:18935957-18935958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188153094	chr7:18935994-18935995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112195593	chr7:18936032-18936033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191196602	chr7:18936033-18936034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556954656	chr7:18936067-18936068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533776260	chr7:18936095-18936096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62448101	chr7:18936127-18936128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547827051	chr7:18936164-18936165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539370766	chr7:18936200-18936201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557496255	chr7:18936210-18936211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572711527	chr7:18936225-18936226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541470231	chr7:18936242-18936243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147297718	chr7:18936255-18936256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140960504	chr7:18936312-18936313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75943753	chr7:18936325-18936326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563726596	chr7:18936384-18936385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531199911	chr7:18936391-18936392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537179263	chr7:18936392-18936393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532417228	chr7:18936393-18936394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533393859	chr7:18936416-18936417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187563432	chr7:18936449-18936450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6961943	chr7:18936474-18936475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191464224	chr7:18936492-18936493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145113506	chr7:18936518-18936519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150964826	chr7:18936524-18936525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184622725	chr7:18936542-18936543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78396488	chr7:18936546-18936547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187880087	chr7:18936572-18936573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539309204	chr7:18936590-18936591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191933485	chr7:18936600-18936601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566475913	chr7:18936622-18936623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533737123	chr7:18936624-18936625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140788590	chr7:18936629-18936630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184404429	chr7:18936655-18936656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542328647	chr7:18936697-18936698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557355342	chr7:18936734-18936735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189660092	chr7:18936761-18936762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546470613	chr7:18936762-18936763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564762647	chr7:18936787-18936788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11385376	chr7:18936791-18936792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367969962	chr7:18936826-18936827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181250743	chr7:18936861-18936862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35016592	chr7:18936875-18936876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18903000-18940000	Weak transcription	Aorta	Aorta
2	chr7:18931200-18943400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:18931400-18940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:18934400-18936600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:18934400-18936800	Enhancers	NHLF	lung
6	chr7:18934800-18936200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:18934800-18936200	Enhancers	A549	lung
8	chr7:18934800-18936200	Enhancers	Hela-S3	cervix
9	chr7:18934800-18936600	Enhancers	HSMM	muscle
10	chr7:18934800-18936600	Enhancers	HUVEC	blood vessel
11	chr7:18935200-18936400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:18935200-18936600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:18935200-18936600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:18935200-18936800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:18935400-18936400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:18935400-18936600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:18935400-18936600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:18935400-18937400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:18935600-18935800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:18935600-18936200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:18935600-18936200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:18935600-18936200	Enhancers	Fetal Kidney	kidney
23	chr7:18935600-18936200	Enhancers	Osteobl	bone
24	chr7:18935600-18936400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:18935600-18936600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:18935600-18936600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:18935600-18936600	Enhancers	HMEC	breast
28	chr7:18935600-18936600	Enhancers	NH-A	brain
29	chr7:18935600-18936600	Enhancers	NHDF-Ad	bronchial
30	chr7:18935600-18936600	Enhancers	NHEK	skin
31	chr7:18935600-18940000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:18935800-18936200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:18935800-18936200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:18936000-18936600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:18936200-18936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:18936200-18939400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:18936200-18939400	Weak transcription	Osteobl	bone
38	chr7:18936400-18939600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:18936400-18940000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:18936400-18940000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:18936600-18939600	Weak transcription	NHDF-Ad	bronchial
42	chr7:18936600-18940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:18936600-18940000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:18936600-18940000	Weak transcription	HSMM	muscle
45	chr7:18936600-18940400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:18936600-18941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:18936600-18941600	Weak transcription	NHEK	skin
48	chr7:18936600-18942800	Weak transcription	HMEC	breast
49	chr7:18937400-18939800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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