Variant report

Variant	esv3360188
Chromosome Location	chr8:48188989-48215097
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	BACH1	chr8:48197212-48197425	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr8:48199873-48200308	K562	blood:	n/a	n/a
3	CBX3	chr8:48199935-48200161	K562	blood:	n/a	n/a
4	CEBPB	chr8:48207430-48207669	Hela-S3	cervix:	n/a	chr8:48207550-48207561
5	CEBPB	chr8:48207386-48207729	K562	blood:	n/a	chr8:48207550-48207561
6	CEBPB	chr8:48190746-48191132	MCF-7	breast:	n/a	chr8:48190963-48190974
7	CEBPB	chr8:48207382-48207722	HepG2	liver:	n/a	chr8:48207550-48207561
8	CEBPB	chr8:48190855-48191087	Hela-S3	cervix:	n/a	chr8:48190963-48190974
9	CEBPB	chr8:48192751-48192920	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:48190916-48191010	K562	blood:	n/a	chr8:48190963-48190974
11	CEBPB	chr8:48207441-48207671	H1-hESC	embryonic stem cell:	n/a	chr8:48207550-48207561
12	CEBPB	chr8:48207411-48207734	A549	lung:	n/a	chr8:48207550-48207561
13	CEBPB	chr8:48192806-48192831	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr8:48190749-48191119	HepG2	liver:	n/a	chr8:48190963-48190974
15	CEBPB	chr8:48207384-48207718	IMR90	lung:	n/a	chr8:48207550-48207561
16	CEBPB	chr8:48207416-48207678	K562	blood:	n/a	chr8:48207550-48207561
17	CEBPB	chr8:48190770-48191137	HepG2	liver:	n/a	chr8:48190963-48190974
18	CEBPB	chr8:48190900-48191021	HepG2	liver:	n/a	chr8:48190963-48190974
19	CEBPB	chr8:48190842-48191083	A549	lung:	n/a	chr8:48190963-48190974
20	CEBPB	chr8:48192762-48192976	IMR90	lung:	n/a	n/a
21	CTCF	chr8:48198720-48198870	NHEK	skin:	n/a	chr8:48198785-48198793
22	CTCF	chr8:48198840-48198990	NHEK	skin:	n/a	n/a
23	CTCF	chr8:48201584-48201641	GM20000	blood:	n/a	n/a
24	CTCF	chr8:48199610-48199654	GM10248	blood:	n/a	n/a
25	E2F4	chr8:48196628-48196815	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr8:48190766-48191143	HepG2	liver:	n/a	n/a
27	EP300	chr8:48190856-48191038	HepG2	liver:	n/a	n/a
28	FOS	chr8:48197905-48197921	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr8:48198833-48199008	MCF10A-Er-Src	breast:	n/a	chr8:48198925-48198934 chr8:48198926-48198935 chr8:48198926-48198933 chr8:48198924-48198936 chr8:48198926-48198934
30	GATA3	chr8:48190546-48191057	MCF-7	breast:	n/a	n/a
31	HDAC2	chr8:48190706-48190993	HepG2	liver:	n/a	n/a
32	JUN	chr8:48208158-48208163	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUN	chr8:48196471-48196583	K562	blood:	n/a	chr8:48196501-48196510
34	JUN	chr8:48205685-48205861	HepG2	liver:	n/a	chr8:48205737-48205750
35	KAP1	chr8:48205285-48206021	HEK293	kidney:	n/a	n/a
36	KAP1	chr8:48200093-48200677	K562	blood:	n/a	n/a
37	KAP1	chr8:48205426-48206008	U2OS	brain:	n/a	n/a
38	MAFK	chr8:48197142-48197439	IMR90	lung:	n/a	n/a
39	MAFK	chr8:48197149-48197473	HepG2	liver:	n/a	n/a
40	MAFK	chr8:48197294-48197432	Hela-S3	cervix:	n/a	n/a
41	MAFK	chr8:48197143-48197472	HepG2	liver:	n/a	n/a
42	MXI1	chr8:48204457-48204460	GM12878	blood:	n/a	n/a
43	MYC	chr8:48190127-48190239	HUVEC	blood vessel:	n/a	n/a
44	MYC	chr8:48192741-48192981	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr8:48192564-48192981	MCF10A-Er-Src	breast:	n/a	n/a
46	NR2F2	chr8:48190626-48191114	MCF-7	breast:	n/a	n/a
47	NR2F2	chr8:48190714-48191148	HepG2	liver:	n/a	n/a
48	NRF1	chr8:48198845-48198897	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:48198988-48199159	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:48198566-48198901	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:48203786..48206533-chr8:48649304..48651747,5	MCF-7	breast:
2	chr8:48185622..48188610-chr8:48189988..48193605,3	K562	blood:
3	chr8:48172897..48175307-chr8:48189146..48191153,2	K562	blood:
4	chr8:48171995..48173689-chr8:48187404..48189747,2	MCF-7	breast:
5	chr8:48202864..48204570-chr8:48206625..48208490,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-5	chr8:48196617-48196683	NONHSAT126443
2	lnc-RP11-1134I14.8.1-5	chr8:48192450-48192605	NONHSAT126443
3	lnc-RP11-1134I14.8.1-5	chr8:48203642-48203726	NONHSAT126444
4	lnc-RP11-1134I14.8.1-5	chr8:48203622-48203726	NONHSAT126443
5	lnc-RP11-1134I14.8.1-5	chr8:48206456-48207017	NONHSAT126444
6	lnc-RP11-1134I14.8.1-5	chr8:48206456-48206619	NONHSAT126443

Variant related genes	Relation type
SPIDR	TF binding region
ENSG00000221869	chromatin interactions
ENSG00000164808	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376259493	chr8:48189235-48189236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369316728	chr8:48189654-48189655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372943863	chr8:48189748-48189749	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374467989	chr8:48189843-48189844	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377062996	chr8:48189857-48189858	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587609113	chr8:48189905-48189906	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201477660	chr8:48189906-48189907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369506064	chr8:48189952-48189953	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369012183	chr8:48190294-48190295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376239452	chr8:48190366-48190367	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369800834	chr8:48190550-48190551	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587663509	chr8:48190658-48190659	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200917323	chr8:48190684-48190685	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371766789	chr8:48190702-48190703	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587749110	chr8:48190723-48190724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374579468	chr8:48190732-48190733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs118097549	chr8:48190762-48190763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371090719	chr8:48190935-48190936	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374133286	chr8:48191079-48191080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377116891	chr8:48191276-48191277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374309978	chr8:48191299-48191300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370453266	chr8:48191478-48191479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370574985	chr8:48191619-48191620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143197590	chr8:48191650-48191651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369944928	chr8:48192024-48192025	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374191880	chr8:48192071-48192072	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367556269	chr8:48192073-48192074	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374070638	chr8:48192290-48192291	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200394743	chr8:48192585-48192586	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs141201247	chr8:48192813-48192814	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372617263	chr8:48192818-48192819	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370959336	chr8:48192828-48192829	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376208606	chr8:48192971-48192972	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587767859	chr8:48192982-48192983	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202043105	chr8:48192983-48192984	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112039572	chr8:48192996-48192997	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370853249	chr8:48193128-48193129	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374453017	chr8:48193334-48193335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368662118	chr8:48193379-48193380	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374628884	chr8:48193493-48193494	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371716552	chr8:48193521-48193522	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368308546	chr8:48194043-48194044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368777150	chr8:48194080-48194081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371802920	chr8:48194097-48194098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375554228	chr8:48194126-48194127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373737748	chr8:48194195-48194196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367911385	chr8:48194261-48194262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377083996	chr8:48194563-48194564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367805146	chr8:48194835-48194836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199927909	chr8:48195231-48195232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48174200-48198400	Weak transcription	Spleen	Spleen
2	chr8:48174200-48199000	Weak transcription	Esophagus	oesophagus
3	chr8:48174200-48203800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:48174400-48192000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:48174400-48197400	Weak transcription	Right Atrium	heart
6	chr8:48174600-48193200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:48174600-48193400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:48174600-48195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:48174600-48198200	Weak transcription	Liver	Liver
10	chr8:48174800-48197200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:48174800-48198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:48175000-48190600	Weak transcription	HMEC	breast
13	chr8:48175200-48189200	Weak transcription	HSMMtube	muscle
14	chr8:48175200-48191800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:48175200-48193400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:48175200-48197000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:48175200-48197800	Weak transcription	Hela-S3	cervix
18	chr8:48175200-48198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:48175400-48189200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:48175400-48193000	Weak transcription	Left Ventricle	heart
21	chr8:48175400-48193400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:48175400-48193600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:48175400-48203600	Weak transcription	NHLF	lung
24	chr8:48176000-48191800	Weak transcription	Dnd41	blood
25	chr8:48180200-48189200	Weak transcription	NHEK	skin
26	chr8:48181000-48192000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:48182600-48198200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:48182800-48194400	Weak transcription	A549	lung
29	chr8:48183000-48204200	Weak transcription	HepG2	liver
30	chr8:48183200-48190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:48183200-48190400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:48183200-48198400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:48183200-48198600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
35	chr8:48183400-48193600	Weak transcription	Primary B cells from cord blood	blood
36	chr8:48183600-48190400	Weak transcription	Placenta	Placenta
37	chr8:48183800-48196200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:48183800-48196800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:48183800-48203600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:48184000-48192200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:48184000-48193200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:48184400-48192000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:48184800-48191800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:48184800-48193200	Weak transcription	Fetal Intestine Large	intestine
45	chr8:48185200-48192600	Weak transcription	Fetal Lung	lung
46	chr8:48185800-48193200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:48186000-48192000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:48186200-48190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:48186400-48190600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:48186400-48191800	Weak transcription	Monocytes-CD14+_RO01746	blood

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