Variant report

Variant	nsv437997
Chromosome Location	chr7:110174844-110185231
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	CEBPB	chr7:110182130-110182398	IMR90	lung:	n/a	n/a
2	CEBPB	chr7:110176259-110176422	HepG2	liver:	n/a	chr7:110176317-110176328 chr7:110176319-110176330 chr7:110176317-110176330 chr7:110176317-110176330
3	CEBPB	chr7:110184991-110185228	HepG2	liver:	n/a	chr7:110185096-110185107
4	CEBPB	chr7:110179284-110179632	IMR90	lung:	n/a	n/a
5	CEBPB	chr7:110184991-110185190	A549	lung:	n/a	chr7:110185096-110185107
6	CEBPB	chr7:110182172-110182372	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr7:110174760-110174910	AG04450	lung:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
8	CTCF	chr7:110174777-110174948	MCF-7	breast:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
9	CTCF	chr7:110174722-110174989	A549	lung:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
10	CTCF	chr7:110174660-110174950	NHEK	skin:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
11	CTCF	chr7:110174780-110174930	MCF-7	breast:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
12	CTCF	chr7:110174820-110174970	MCF-7	breast:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
13	CTCF	chr7:110174760-110174910	HMF	breast:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
14	CTCF	chr7:110174800-110174950	BE2_C	brain:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
15	CTCF	chr7:110174780-110174930	HCPEpiC	choroid plexus:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
16	CTCF	chr7:110174820-110174970	AG10803	skin:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
17	CTCF	chr7:110174767-110174933	LNCaP	prostate:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
18	CTCF	chr7:110174760-110174910	AG04449	skin:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
19	CTCF	chr7:110174762-110174953	LNCaP	prostate:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
20	CTCF	chr7:110174800-110174950	HMEC	breast:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
21	CTCF	chr7:110174700-110174850	HVMF	connective:	n/a	n/a
22	CTCF	chr7:110184400-110184550	AG04449	skin:	n/a	n/a
23	CTCF	chr7:110184440-110184590	BJ	skin:	n/a	n/a
24	CTCF	chr7:110184460-110184610	HAc	cerebellar:	n/a	n/a
25	CTCF	chr7:110174717-110175031	IMR90	lung:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
26	CTCF	chr7:110174740-110174890	AG04450	lung:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
27	CTCF	chr7:110174780-110174930	NHEK	skin:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
28	CTCF	chr7:110174780-110174930	AG04449	skin:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
29	CTCF	chr7:110184480-110184630	BJ	skin:	n/a	n/a
30	CTCF	chr7:110174780-110174930	HEEpiC	esophagus:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
31	CTCF	chr7:110174780-110174930	A549	lung:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
32	CTCF	chr7:110174757-110174955	MCF-7	breast:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
33	CTCF	chr7:110174760-110174910	HCPEpiC	choroid plexus:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
34	CTCF	chr7:110174780-110174930	SAEC	small airway:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
35	CTCF	chr7:110174720-110174870	HepG2	liver:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
36	CTCF	chr7:110184393-110184593	IMR90	lung:	n/a	n/a
37	CTCF	chr7:110174760-110174910	SK-N-SH_RA	brain:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
38	CTCF	chr7:110174820-110174970	HEEpiC	esophagus:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
39	CTCF	chr7:110174780-110174930	AG09319	gingival:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
40	CTCF	chr7:110174780-110174930	BE2_C	brain:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
41	CTCF	chr7:110174787-110174911	ProgFib	skin:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
42	CTCF	chr7:110174791-110174942	Hela-S3	cervix:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
43	CTCF	chr7:110174752-110174933	NHEK	skin:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
44	CTCF	chr7:110174653-110175102	MCF-7	breast:	n/a	chr7:110174856-110174869 chr7:110174858-110174868
45	EP300	chr7:110174240-110174991	SK-N-SH_RA	brain:	n/a	chr7:110174606-110174620 chr7:110174608-110174622 chr7:110174615-110174629
46	EP300	chr7:110174609-110175185	MCF-7	breast:	n/a	chr7:110174615-110174629
47	EP300	chr7:110174524-110175166	A549	lung:	n/a	chr7:110174606-110174620 chr7:110174608-110174622 chr7:110174615-110174629
48	EP300	chr7:110174403-110175223	A549	lung:	n/a	chr7:110174606-110174620 chr7:110174608-110174622 chr7:110174615-110174629
49	EP300	chr7:110174810-110174944	Hela-S3	cervix:	n/a	n/a
50	EP300	chr7:110174292-110174979	SK-N-SH_RA	brain:	n/a	chr7:110174606-110174620 chr7:110174608-110174622 chr7:110174615-110174629

No.	Distal block	Cell Line	Cell type
1	chr4:4482219..4482825-chr7:110184645..110185165,2	MCF-7	breast:
2	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:
3	chr7:110177934..110179982-chr7:110181081..110183744,2	K562	blood:
4	chr7:110177934..110179982-chr7:110181081..110183744,2	K562	blood:
5	chr7:110175478..110177187-chr7:110400882..110403616,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226965	TF binding region

Extended variants
information (count: 356 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs953729	chr7:110174844-110174845	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543998443	chr7:110174845-110174846	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs540326927	chr7:110174913-110174914	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558822634	chr7:110175008-110175009	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs185249826	chr7:110175030-110175031	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190179074	chr7:110175032-110175033	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143493645	chr7:110175118-110175119	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs376697457	chr7:110175123-110175124	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77702272	chr7:110175195-110175196	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs80329344	chr7:110175227-110175228	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs529944483	chr7:110175233-110175234	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531651727	chr7:110175235-110175236	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537988490	chr7:110175348-110175349	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs141351315	chr7:110175381-110175382	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375623645	chr7:110175396-110175397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527521973	chr7:110175412-110175413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78021762	chr7:110175413-110175414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116299360	chr7:110175429-110175430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529686505	chr7:110175449-110175450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181937274	chr7:110175465-110175466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569583152	chr7:110175505-110175506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538508516	chr7:110175629-110175630	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs187042051	chr7:110175716-110175717	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558214489	chr7:110175732-110175733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555990614	chr7:110175738-110175739	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574337405	chr7:110175763-110175764	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs560114206	chr7:110175795-110175796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541479243	chr7:110175814-110175815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34743110	chr7:110175837-110175838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118038956	chr7:110175904-110175905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145086384	chr7:110175965-110175966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555219873	chr7:110175975-110175976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573820434	chr7:110176014-110176015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542624316	chr7:110176026-110176027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191116234	chr7:110176040-110176041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576388649	chr7:110176105-110176106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545276762	chr7:110176123-110176124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531979974	chr7:110176129-110176130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565041116	chr7:110176156-110176157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573233181	chr7:110176189-110176190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527432414	chr7:110176205-110176206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180783740	chr7:110176210-110176211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541247415	chr7:110176221-110176222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185447646	chr7:110176244-110176245	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs529798943	chr7:110176255-110176256	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76888209	chr7:110176273-110176274	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569629122	chr7:110176298-110176299	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371820672	chr7:110176310-110176311	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552012213	chr7:110176312-110176313	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190196963	chr7:110176338-110176339	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110172600-110175400	Flanking Active TSS	Dnd41	blood
2	chr7:110173600-110175200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:110173800-110175200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:110174000-110175000	Enhancers	Placenta	Placenta
5	chr7:110174000-110175200	Enhancers	HepG2	liver
6	chr7:110174000-110175400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:110174000-110176000	Enhancers	Fetal Heart	heart
8	chr7:110174200-110175000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:110174200-110175200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:110174400-110175000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:110174400-110175000	Enhancers	NH-A	brain
12	chr7:110174400-110175200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:110174400-110175200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:110174400-110175400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:110174600-110175400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:110174600-110176000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:110174800-110175000	Enhancers	Right Atrium	heart
18	chr7:110174800-110175200	Flanking Active TSS	A549	lung
19	chr7:110174800-110176200	Enhancers	HMEC	breast
20	chr7:110174800-110176200	Enhancers	NHEK	skin
21	chr7:110175200-110175600	Enhancers	A549	lung
22	chr7:110175200-110182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:110175200-110188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:110175400-110177600	Enhancers	Dnd41	blood
25	chr7:110176000-110179400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:110176200-110180400	Weak transcription	HMEC	breast
27	chr7:110176200-110181000	Weak transcription	NHEK	skin
28	chr7:110179400-110180200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:110180200-110180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:110180400-110183200	Enhancers	HMEC	breast
31	chr7:110180600-110180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:110180800-110182600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:110181000-110184600	Enhancers	NHEK	skin
34	chr7:110181400-110183200	Enhancers	NHLF	lung
35	chr7:110182000-110182600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:110182600-110182800	Enhancers	NH-A	brain
37	chr7:110182600-110183200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:110182600-110184200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:110182600-110185200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:110182800-110183000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:110182800-110183800	Weak transcription	NH-A	brain
42	chr7:110183000-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:110183200-110183600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:110183200-110183800	Weak transcription	HMEC	breast
45	chr7:110183200-110184000	Weak transcription	NHLF	lung
46	chr7:110183600-110185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:110183800-110184200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:110183800-110184400	Enhancers	HMEC	breast
49	chr7:110183800-110184400	Enhancers	NH-A	brain
50	chr7:110184000-110184200	Enhancers	NHLF	lung

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