Variant report

Variant	esv1824129
Chromosome Location	chr8:35395787-35400084
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	chr8:35399976-35400276	SK-N-SH_RA	brain:	n/a	chr8:35400022-35400036
2	EP300	chr8:35399915-35400218	SK-N-SH_RA	brain:	n/a	chr8:35400022-35400036
3	EP300	chr8:35399599-35399945	SK-N-SH_RA	brain:	n/a	chr8:35399666-35399676
4	EP300	chr8:35398657-35400992	SK-N-SH	brain:	n/a	chr8:35400022-35400036 chr8:35399666-35399676 chr8:35400775-35400789
5	ESR1	chr8:35396862-35397381	T-47D	breast:	n/a	n/a
6	ESR1	chr8:35396927-35397385	T-47D	breast:	n/a	n/a
7	ESR1	chr8:35396923-35397347	T-47D	breast:	n/a	n/a
8	FOS	chr8:35399974-35400097	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA1	chr8:35397072-35397391	T-47D	breast:	n/a	n/a
10	FOXA1	chr8:35397148-35397332	T-47D	breast:	n/a	n/a
11	FOXP2	chr8:35399612-35400268	SK-N-MC	brain:	n/a	chr8:35400166-35400178 chr8:35400039-35400051
12	GATA2	chr8:35398106-35398417	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr8:35397118-35397214	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr8:35398078-35398368	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr8:35399554-35399754	SH-SY5Y	brain:	n/a	n/a
16	MAX	chr8:35398535-35398815	NB4	blood:	n/a	n/a
17	MAX	chr8:35398665-35398744	GM12878	blood:	n/a	n/a
18	MYC	chr8:35398658-35398858	NB4	blood:	n/a	n/a
19	MYC	chr8:35398260-35398371	NB4	blood:	n/a	n/a
20	NFIC	chr8:35399786-35400325	ECC-1	luminal epithelium:	n/a	chr8:35400077-35400094 chr8:35400078-35400094
21	POLR2A	chr8:35399392-35400417	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr8:35397390-35397720	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr8:35397380-35397712	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr8:35399638-35399852	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr8:35399677-35400184	SK-N-MC	brain:	n/a	n/a
26	SETDB1	chr8:35398621-35399268	U2OS	brain:	n/a	n/a
27	SPI1	chr8:35398605-35398817	GM12891	blood:	n/a	n/a
28	TCF12	chr8:35399624-35400079	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
UNC5D	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531551501	chr8:35395789-35395790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528391647	chr8:35395836-35395837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs41409549	chr8:35395853-35395854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191837812	chr8:35395882-35395883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183598300	chr8:35395893-35395894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75933416	chr8:35395894-35395895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376203036	chr8:35395914-35395915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199571895	chr8:35395934-35395935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67887797	chr8:35395939-35395940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189369420	chr8:35395957-35395958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547536939	chr8:35396022-35396023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192715629	chr8:35396105-35396106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377654607	chr8:35396114-35396115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539129184	chr8:35396215-35396216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144577599	chr8:35396237-35396238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565605245	chr8:35396295-35396296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566456607	chr8:35396335-35396336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115696560	chr8:35396346-35396347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185396500	chr8:35396347-35396348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148481771	chr8:35396348-35396349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190686846	chr8:35396377-35396378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74360337	chr8:35396386-35396387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564571017	chr8:35396471-35396472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578059815	chr8:35396479-35396480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545070891	chr8:35396486-35396487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13265153	chr8:35396502-35396503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs572090141	chr8:35396515-35396516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540175762	chr8:35396543-35396544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181505611	chr8:35396580-35396581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186199552	chr8:35396707-35396708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2589745	chr8:35396773-35396774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562518475	chr8:35396776-35396777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368147274	chr8:35396827-35396828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533090041	chr8:35396845-35396846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551487651	chr8:35396852-35396853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188615441	chr8:35396924-35396925	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533768214	chr8:35396932-35396933	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs181403593	chr8:35396982-35396983	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567958617	chr8:35397024-35397025	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs550047629	chr8:35397026-35397027	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538121332	chr8:35397081-35397082	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs568146599	chr8:35397135-35397136	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs77094021	chr8:35397142-35397143	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2589344	chr8:35397152-35397153	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs186570495	chr8:35397199-35397200	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572152810	chr8:35397225-35397226	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542612759	chr8:35397317-35397318	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs115953010	chr8:35397339-35397340	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573903608	chr8:35397341-35397342	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544159425	chr8:35397390-35397391	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35359800-35397200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:35391600-35397000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:35391600-35401400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:35391800-35396200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:35392000-35397000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:35392000-35397000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:35392600-35397000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:35392800-35396600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:35393000-35397200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:35393400-35397000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:35393800-35399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:35395600-35395800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:35395800-35397200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:35396200-35397600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:35396200-35399200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:35396600-35404000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:35397000-35397400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:35397000-35397400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:35397000-35397400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:35397000-35398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:35397000-35403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:35397200-35397800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:35397200-35400400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:35397200-35401400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:35397400-35398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:35397400-35398400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:35397400-35399000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:35397600-35401400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:35397800-35398200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:35398200-35398800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:35398200-35399000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:35398200-35399200	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr8:35398400-35400600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:35398400-35400800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:35398600-35399800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:35398800-35401400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:35399000-35399200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:35399000-35399200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:35399000-35399200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr8:35399000-35404000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:35399200-35399600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:35399200-35400000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:35399200-35400200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:35399200-35401600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:35399200-35401800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:35399600-35400800	Enhancers	Fetal Lung	lung
47	chr8:35399600-35401400	Enhancers	Fetal Brain Male	brain
48	chr8:35399600-35403200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:35399800-35400000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:35399800-35400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links