Variant report

Variant	nsv966865
Chromosome Location	chr7:99735585-99740478
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	BHLHE40	chr7:99736030-99736089	GM12878	blood:	n/a	n/a
2	BRCA1	chr7:99735599-99735707	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:99735424-99735927	MCF-7	breast:	n/a	n/a
4	CEBPB	chr7:99740166-99740460	IMR90	lung:	n/a	n/a
5	CEBPB	chr7:99739241-99739589	Hela-S3	cervix:	n/a	chr7:99739434-99739445
6	CEBPB	chr7:99739394-99739430	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:99738626-99738807	HepG2	liver:	n/a	chr7:99738702-99738713
8	CEBPB	chr7:99740159-99740468	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr7:99740117-99740532	MCF-7	breast:	n/a	n/a
10	CEBPB	chr7:99738611-99738873	Hela-S3	cervix:	n/a	chr7:99738702-99738713
11	CEBPB	chr7:99739315-99739553	MCF-7	breast:	n/a	chr7:99739434-99739445
12	CEBPB	chr7:99735616-99735621	K562	blood:	n/a	n/a
13	CEBPB	chr7:99738673-99738720	H1-hESC	embryonic stem cell:	n/a	chr7:99738702-99738713
14	CEBPB	chr7:99738676-99738819	K562	blood:	n/a	chr7:99738702-99738713
15	CEBPB	chr7:99740210-99740471	HepG2	liver:	n/a	n/a
16	CEBPB	chr7:99740256-99740342	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:99740145-99740480	A549	lung:	n/a	n/a
18	CEBPB	chr7:99739298-99739511	A549	lung:	n/a	chr7:99739434-99739445
19	CEBPB	chr7:99738553-99738775	MCF-7	breast:	n/a	chr7:99738702-99738713
20	CTCF	chr7:99735540-99735690	GM12872	blood:	n/a	n/a
21	EBF1	chr7:99735564-99736085	GM12878	blood:	n/a	n/a
22	EBF1	chr7:99735530-99736116	GM12878	blood:	n/a	n/a
23	ELF1	chr7:99735589-99735916	K562	blood:	n/a	chr7:99735764-99735777
24	ELF1	chr7:99735465-99736127	MCF-7	breast:	n/a	chr7:99735764-99735777
25	ELF1	chr7:99735498-99735987	MCF-7	breast:	n/a	chr7:99735764-99735777
26	FOS	chr7:99738876-99739180	MCF10A-Er-Src	breast:	n/a	chr7:99739027-99739038
27	FOS	chr7:99738899-99739197	HUVEC	blood vessel:	n/a	chr7:99739027-99739038
28	FOS	chr7:99738975-99739078	MCF10A-Er-Src	breast:	n/a	chr7:99739027-99739038
29	FOS	chr7:99738951-99739167	MCF10A-Er-Src	breast:	n/a	chr7:99739027-99739038
30	GATA3	chr7:99735375-99735992	MCF-7	breast:	n/a	n/a
31	MAFF	chr7:99735616-99735779	K562	blood:	n/a	n/a
32	MAX	chr7:99739231-99739589	Hela-S3	cervix:	n/a	chr7:99739359-99739369 chr7:99739384-99739395
33	MAX	chr7:99739187-99739564	NB4	blood:	n/a	chr7:99739359-99739369 chr7:99739384-99739395
34	MXI1	chr7:99739322-99739450	Hela-S3	cervix:	n/a	n/a
35	MYC	chr7:99739159-99739599	NB4	blood:	n/a	chr7:99739359-99739369 chr7:99739384-99739395
36	PAX5	chr7:99735488-99735710	GM12892	blood:	n/a	n/a
37	PAX5	chr7:99735467-99735750	GM12878	blood:	n/a	n/a
38	PAX5	chr7:99735474-99735611	GM12878	blood:	n/a	n/a
39	PAX5	chr7:99735413-99735855	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:99735641-99735797	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:99735633-99735926	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:99736297-99736451	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:99735647-99735853	GM12891	blood:	n/a	n/a
44	POLR2A	chr7:99739122-99739551	HL-60	blood:	n/a	n/a
45	RCOR1	chr7:99737420-99737543	K562	blood:	n/a	n/a
46	RUNX3	chr7:99735371-99735948	GM12878	blood:	n/a	n/a
47	RUNX3	chr7:99735394-99735861	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr7:99735311-99736044	MCF-7	breast:	n/a	n/a
49	SPI1	chr7:99739206-99739576	HL-60	blood:	n/a	chr7:99739402-99739411
50	STAT3	chr7:99739373-99739507	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99734202..99739266-chr7:99744673..99748688,7	MCF-7	breast:
2	chr7:99740228..99744424-chr7:99744987..99748272,6	K562	blood:
3	chr7:99739079..99742104-chr7:99744920..99746828,3	MCF-7	breast:
4	chr7:99739407..99742244-chr7:99753484..99755089,2	MCF-7	breast:
5	chr7:99735959..99737658-chr7:99745267..99748178,2	MCF-7	breast:
6	chr4:75240541..75242420-chr7:99735391..99737908,2	MCF-7	breast:
7	chr7:99739427..99740953-chr7:99741554..99744505,2	K562	blood:
8	chr7:99739422..99741762-chr7:99745236..99747226,2	MCF-7	breast:
9	chr7:99737883..99740607-chr7:99754940..99757198,2	K562	blood:
10	chr7:99735323..99737033-chr7:99747099..99749402,2	K562	blood:
11	chr7:99735365..99737533-chr7:99748809..99751456,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBLAC1-1	chr7:99737795-99738062	ENSG00000235077.1

Variant related genes	Relation type
RPL7P60	TF binding region
ENSG00000266154	chromatin interactions
ENSG00000146826	chromatin interactions
ENSG00000188186	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557003224	chr7:99735627-99735628	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182738831	chr7:99735652-99735653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187475017	chr7:99735669-99735670	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190758611	chr7:99735671-99735672	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113615241	chr7:99735689-99735690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542324830	chr7:99735696-99735697	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563745661	chr7:99735743-99735744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566144186	chr7:99735783-99735784	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531005586	chr7:99735795-99735796	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140735228	chr7:99735814-99735815	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565062432	chr7:99735815-99735816	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183359003	chr7:99736032-99736033	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547328380	chr7:99736057-99736058	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11771139	chr7:99736059-99736060	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs529621652	chr7:99736087-99736088	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555154481	chr7:99736101-99736102	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547901614	chr7:99736119-99736120	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569438487	chr7:99736133-99736134	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144603500	chr7:99736152-99736153	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536740811	chr7:99736232-99736233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558774901	chr7:99736262-99736263	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370029309	chr7:99736295-99736296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188054794	chr7:99736321-99736322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573451441	chr7:99736389-99736390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574798487	chr7:99736608-99736609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542272673	chr7:99736621-99736622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113609171	chr7:99736639-99736640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557377899	chr7:99736707-99736708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147914336	chr7:99736739-99736740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546315250	chr7:99736740-99736741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13247299	chr7:99736843-99736844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373854957	chr7:99736863-99736864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565092299	chr7:99736873-99736874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368627214	chr7:99736946-99736947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193263602	chr7:99736965-99736966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34666036	chr7:99737012-99737013	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
37	rs564706214	chr7:99737019-99737020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184125771	chr7:99737020-99737021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541838802	chr7:99737029-99737030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376313843	chr7:99737046-99737047	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71540907	chr7:99737047-99737048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529976693	chr7:99737063-99737064	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201551723	chr7:99737099-99737100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187922813	chr7:99737101-99737102	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569309480	chr7:99737143-99737144	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530526208	chr7:99737161-99737162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs56733782	chr7:99737164-99737165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199740105	chr7:99737172-99737173	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56301545	chr7:99737186-99737187	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571044246	chr7:99737208-99737209	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99728800-99735600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:99728800-99740000	Weak transcription	Colonic Mucosa	Colon
3	chr7:99728800-99746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:99730600-99735600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:99730600-99738600	Weak transcription	Hela-S3	cervix
6	chr7:99730800-99735600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:99730800-99735600	Weak transcription	Thymus	Thymus
8	chr7:99731000-99745600	Weak transcription	Pancreas	Pancrea
9	chr7:99735200-99736400	Enhancers	Fetal Thymus	thymus
10	chr7:99735400-99735800	Enhancers	Primary B cells from cord blood	blood
11	chr7:99735400-99735800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:99735400-99735800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:99735400-99736000	Flanking Active TSS	GM12878-XiMat	blood
14	chr7:99735400-99736200	Enhancers	Primary T cells from cord blood	blood
15	chr7:99735400-99736200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:99735400-99736200	Enhancers	Placenta	Placenta
17	chr7:99735400-99736200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:99735400-99736400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:99735400-99736400	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:99735400-99736600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr7:99735400-99736800	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:99735600-99736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:99735600-99736200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:99735600-99736200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:99735600-99736200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:99735600-99736200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:99735600-99736200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr7:99735600-99736200	Enhancers	Thymus	Thymus
29	chr7:99735600-99736400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:99735600-99736400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:99735600-99736400	Enhancers	Stomach Mucosa	stomach
32	chr7:99735800-99736000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:99735800-99736200	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr7:99735800-99736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:99736000-99736200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:99736000-99736200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:99736000-99736200	Enhancers	NHEK	skin
38	chr7:99736000-99736400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:99736000-99736400	Enhancers	Fetal Intestine Small	intestine
40	chr7:99736000-99736400	Enhancers	GM12878-XiMat	blood
41	chr7:99736000-99739000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:99736200-99736800	Enhancers	Primary B cells from cord blood	blood
43	chr7:99736200-99738000	Weak transcription	Placenta	Placenta
44	chr7:99736200-99738800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:99736200-99738800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:99736200-99739000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:99736200-99739000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:99736200-99741800	Weak transcription	Thymus	Thymus
49	chr7:99736200-99745800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:99736400-99738800	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links