Variant report

Variant	nsv824727
Chromosome Location	chr8:125492978-125494998
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	CTCF	chr8:125494780-125494930	GM12869	blood:	n/a	n/a
2	EBF1	chr8:125493374-125493622	GM12878	blood:	n/a	chr8:125493464-125493473 chr8:125493463-125493474 chr8:125493464-125493473 chr8:125493463-125493473 chr8:125493462-125493475
3	IRF1	chr8:125493602-125493652	K562	blood:	n/a	n/a
4	POLR2A	chr8:125492644-125493086	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:125493753-125493769	ProgFib	skin:	n/a	n/a
6	POLR2A	chr8:125492764-125493154	GM12878	blood:	n/a	n/a
7	RFX5	chr8:125493715-125493782	K562	blood:	n/a	n/a
8	SPI1	chr8:125494212-125494549	HL-60	blood:	n/a	chr8:125494416-125494429

No.	Distal block	Cell Line	Cell type
1	chr8:125494945..125497543-chr8:125548660..125551608,2	K562	blood:
2	chr5:141226994..141229568-chr8:125493170..125494852,2	MCF-7	breast:
3	chr8:125491802..125498170-chr8:125548148..125552034,10	MCF-7	breast:
4	chr8:125490493..125493042-chr8:125507947..125510493,3	MCF-7	breast:

Variant related genes	Relation type
RNF139	TF binding region
ENSG00000147684	chromatin interactions
ENSG00000147687	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544282372	chr8:125493006-125493007	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs564158204	chr8:125493050-125493051	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs541856008	chr8:125493062-125493063	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571634023	chr8:125493073-125493074	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540406032	chr8:125493150-125493151	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs564213429	chr8:125493158-125493159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369461580	chr8:125493159-125493160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77185225	chr8:125493169-125493170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549028931	chr8:125493179-125493180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562074442	chr8:125493273-125493274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545626512	chr8:125493300-125493301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374823638	chr8:125493318-125493319	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530804555	chr8:125493324-125493325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141830715	chr8:125493344-125493345	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531271229	chr8:125493346-125493347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570590671	chr8:125493393-125493394	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539581332	chr8:125493439-125493440	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs546759636	chr8:125493456-125493457	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs191468079	chr8:125493500-125493501	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs62527886	chr8:125493539-125493540	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs559693620	chr8:125493552-125493553	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs184668777	chr8:125493566-125493567	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147248831	chr8:125493574-125493575	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537630971	chr8:125493585-125493586	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs139112234	chr8:125493610-125493611	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs72713059	chr8:125493615-125493616	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190220031	chr8:125493623-125493624	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs540345648	chr8:125493644-125493645	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs113977061	chr8:125493647-125493648	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs147393778	chr8:125493659-125493660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28414531	chr8:125493664-125493665	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562638238	chr8:125493675-125493676	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531529056	chr8:125493677-125493678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544185039	chr8:125493784-125493785	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs564157641	chr8:125493914-125493915	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs4551335	chr8:125493942-125493943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs375291006	chr8:125493982-125493983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs185052994	chr8:125493997-125493998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190292858	chr8:125494019-125494020	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529452733	chr8:125494039-125494040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs549599242	chr8:125494054-125494055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569425730	chr8:125494137-125494138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111282908	chr8:125494158-125494159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548073259	chr8:125494163-125494164	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs202087246	chr8:125494196-125494197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373533668	chr8:125494204-125494205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs572069320	chr8:125494266-125494267	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs115822589	chr8:125494270-125494271	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557750834	chr8:125494272-125494273	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs571284835	chr8:125494284-125494285	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488000-125503400	Weak transcription	Spleen	Spleen
2	chr8:125488200-125498200	Weak transcription	Esophagus	oesophagus
3	chr8:125488200-125515800	Weak transcription	Lung	lung
4	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125489000-125496200	Weak transcription	Colonic Mucosa	Colon
6	chr8:125489000-125497200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:125489000-125498200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:125489000-125498200	Weak transcription	Placenta	Placenta
9	chr8:125489000-125501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:125489000-125503400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:125489000-125541200	Weak transcription	Gastric	stomach
15	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
16	chr8:125489200-125493200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:125489200-125493600	Enhancers	Adipose Nuclei	Adipose
18	chr8:125489200-125494200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:125489200-125495800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:125489200-125496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:125489200-125496200	Weak transcription	Fetal Stomach	stomach
22	chr8:125489200-125496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:125489200-125496400	Weak transcription	NH-A	brain
24	chr8:125489200-125497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:125489200-125498000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:125489200-125498000	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:125489200-125498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:125489200-125498200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:125489200-125498200	Weak transcription	Aorta	Aorta
30	chr8:125489200-125498200	Weak transcription	Right Ventricle	heart
31	chr8:125489200-125498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:125489200-125498200	Weak transcription	Thymus	Thymus
33	chr8:125489200-125498400	Weak transcription	Fetal Brain Male	brain
34	chr8:125489200-125498600	Weak transcription	A549	lung
35	chr8:125489200-125498600	Weak transcription	HSMMtube	muscle
36	chr8:125489400-125494000	Enhancers	Primary B cells from cord blood	blood
37	chr8:125489400-125497800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:125489400-125498000	Weak transcription	Fetal Kidney	kidney
39	chr8:125489400-125498000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:125489400-125498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:125489400-125498200	Weak transcription	HSMM	muscle
42	chr8:125489400-125498400	Weak transcription	NHEK	skin
43	chr8:125489400-125501800	Weak transcription	Fetal Intestine Small	intestine
44	chr8:125489600-125493200	Enhancers	HepG2	liver
45	chr8:125489600-125494000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr8:125489600-125494800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:125489600-125497800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:125489600-125498000	Weak transcription	Fetal Intestine Large	intestine
49	chr8:125489600-125498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:125489600-125498200	Weak transcription	Rectal Mucosa Donor 31	rectum

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