Variant report

Variant	nsv550136
Chromosome Location	chr10:19768204-19793498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:163)
CpG islands
(count:62)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:163 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:19792017-19792188	K562	blood:	n/a	n/a
2	BACH1	chr10:19777970-19778068	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:19781460-19782153	HepG2	liver:	n/a	chr10:19781628-19781639
4	CEBPB	chr10:19787873-19788271	MCF-7	breast:	n/a	chr10:19788093-19788106 chr10:19788094-19788105 chr10:19788093-19788106 chr10:19788093-19788104 chr10:19788093-19788106
5	CEBPB	chr10:19789951-19790296	MCF-7	breast:	n/a	n/a
6	CEBPB	chr10:19787930-19788238	HepG2	liver:	n/a	chr10:19788093-19788106 chr10:19788094-19788105 chr10:19788093-19788106 chr10:19788093-19788104 chr10:19788093-19788106
7	CEBPB	chr10:19781492-19782070	IMR90	lung:	n/a	chr10:19781628-19781639
8	CEBPB	chr10:19787923-19788214	A549	lung:	n/a	chr10:19788093-19788106 chr10:19788094-19788105 chr10:19788093-19788106 chr10:19788093-19788104 chr10:19788093-19788106
9	CEBPB	chr10:19787938-19788228	IMR90	lung:	n/a	chr10:19788093-19788106 chr10:19788094-19788105 chr10:19788093-19788106 chr10:19788093-19788104 chr10:19788093-19788106
10	CEBPB	chr10:19787872-19788258	MCF-7	breast:	n/a	chr10:19788093-19788106 chr10:19788094-19788105 chr10:19788093-19788106 chr10:19788093-19788104 chr10:19788093-19788106
11	CEBPB	chr10:19770776-19771101	HepG2	liver:	n/a	n/a
12	CEBPB	chr10:19781986-19782089	K562	blood:	n/a	n/a
13	CHD2	chr10:19777819-19778173	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr10:19777817-19778134	IMR90	lung:	n/a	n/a
15	CTCF	chr10:19777840-19777990	HRE	kidney:	n/a	n/a
16	CTCF	chr10:19783026-19783106	MCF-7	breast:	n/a	n/a
17	CTCF	chr10:19777900-19778050	HepG2	liver:	n/a	n/a
18	CTCF	chr10:19777740-19777890	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr10:19777928-19777965	HepG2	liver:	n/a	n/a
20	CTCF	chr10:19777840-19777990	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr10:19777860-19778010	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr10:19777900-19778050	AG04450	lung:	n/a	n/a
23	CTCF	chr10:19777880-19778030	HPF	lung:	n/a	n/a
24	CTCF	chr10:19785270-19785345	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr10:19782940-19783090	GM12874	blood:	n/a	n/a
26	CTCF	chr10:19777840-19777990	HAc	cerebellar:	n/a	n/a
27	CTCF	chr10:19777840-19777990	HVMF	connective:	n/a	n/a
28	CTCF	chr10:19782999-19783116	HepG2	liver:	n/a	n/a
29	CTCF	chr10:19782915-19783244	HepG2	liver:	n/a	n/a
30	CTCF	chr10:19777880-19778030	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr10:19777766-19778130	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr10:19783039-19783098	MCF-7	breast:	n/a	n/a
33	CTCF	chr10:19777820-19777970	AG09319	gingival:	n/a	n/a
34	CTCF	chr10:19777820-19777970	NHLF	lung:	n/a	n/a
35	CTCF	chr10:19782980-19783130	GM12872	blood:	n/a	n/a
36	CTCF	chr10:19777920-19778070	AG10803	skin:	n/a	n/a
37	CTCF	chr10:19777800-19777950	HVMF	connective:	n/a	n/a
38	CTCF	chr10:19777880-19778030	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr10:19777860-19778010	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr10:19777903-19778017	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr10:19777880-19778030	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr10:19777924-19777992	GM12892	blood:	n/a	n/a
43	CTCF	chr10:19777860-19778010	HCM	heart:	n/a	n/a
44	CTCF	chr10:19777907-19778037	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr10:19781475-19781501	Lung_OC	lung:	n/a	n/a
46	CTCF	chr10:19783020-19783170	GM12872	blood:	n/a	n/a
47	CTCF	chr10:19783036-19783094	NHEK	skin:	n/a	n/a
48	CTCF	chr10:19777920-19778070	AG09319	gingival:	n/a	n/a
49	CTCF	chr10:19778080-19778230	HRE	kidney:	n/a	n/a
50	CTCF	chr10:19777860-19778010	HCFaa	heart:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:19778008-19778058	T-47D	breast:	n/a
2	chr10:19778008-19778058	T-47D	breast:	n/a
3	chr10:19778008-19778058	SKMC	muscle:	n/a
4	chr10:19778008-19778058	U87	brain:	n/a
5	chr10:19778008-19778058	ProgFib	skin:	n/a
6	chr10:19778008-19778058	HRPEpiC	eye:	n/a
7	chr10:19778008-19778058	NHBE	bronchial:	n/a
8	chr10:19778008-19778058	SK-N-SH_RA	brain:	n/a
9	chr10:19778008-19778058	AoSMC	blood vessel:	n/a
10	chr10:19778008-19778058	AG04450	lung:	fetal
11	chr10:19778008-19778058	HEEpiC	esophagus:	n/a
12	chr10:19778008-19778058	RPTEC	kidney:	n/a
13	chr10:19778008-19778058	NB4	blood:	n/a
14	chr10:19778008-19778058	HL-60	blood:	n/a
15	chr10:19778008-19778058	PFSK-1	brain:	n/a
16	chr10:19778008-19778058	AG10803	skin:	n/a
17	chr10:19778008-19778058	HepG2	liver:	n/a
18	chr10:19778008-19778058	BJ	skin:	n/a
19	chr10:19778008-19778058	CMK	blood:	n/a
20	chr10:19778008-19778058	ECC-1	luminal epithelium:	n/a
21	chr10:19778008-19778058	PANC-1	pancreas:	n/a
22	chr10:19778008-19778058	GM19239	blood:	n/a
23	chr10:19778008-19778058	IMR90	lung:	fetal
24	chr10:19778008-19778058	GM06990	blood:	n/a
25	chr10:19778008-19778058	MCF10A-Er-Src	breast:	n/a
26	chr10:19778008-19778058	HRE	kidney:	n/a
27	chr10:19778008-19778058	HCF	heart:	n/a
28	chr10:19778008-19778058	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:19778008-19778058	HCPEpiC	choroid plexus:	n/a
30	chr10:19778008-19778058	NH-A	brain:	n/a
31	chr10:19778008-19778058	GM12878	blood:	n/a
32	chr10:19778008-19778058	HCM	heart:	n/a
33	chr10:19778008-19778058	Hela-S3	cervix:	n/a
34	chr10:19778008-19778058	AG09309	skin:	n/a
35	chr10:19778008-19778058	Jurkat	blood:	n/a
36	chr10:19778008-19778058	AG09319	gingival:	n/a
37	chr10:19778008-19778058	HNPCEpiC	eye:	n/a
38	chr10:19778008-19778058	MCF-7	breast:	n/a
39	chr10:19778008-19778058	SK-N-SH	brain:	n/a
40	chr10:19778008-19778058	SAEC	small airway:	n/a
41	chr10:19778008-19778058	HUVEC	blood vessel:	n/a
42	chr10:19778008-19778058	A549	lung:	n/a
43	chr10:19778008-19778058	AG04449	skin:	fetal
44	chr10:19778008-19778058	BE2_C	brain:	n/a
45	chr10:19778008-19778058	HRCEpiC	kidney:	n/a
46	chr10:19778008-19778058	HCT-116	colon:	n/a
47	chr10:19778008-19778058	GM12891	blood:	n/a
48	chr10:19778008-19778058	H1-hESC	embryonic stem cell:	embryo
49	chr10:19778008-19778058	NT2-D1	testis:	n/a
50	chr10:19778008-19778058	Hepatocyte	liver:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:19784572..19786146-chr10:19787649..19789922,2	MCF-7	breast:
2	chr10:19769588..19771872-chr10:19775105..19777621,2	K562	blood:
3	chr10:19781369..19782958-chr10:19786296..19789278,2	MCF-7	breast:
4	chr10:19784572..19786146-chr10:19787649..19789922,2	MCF-7	breast:
5	chr10:19785625..19787709-chr10:19788365..19791040,2	MCF-7	breast:
6	chr10:19776078..19778713-chr10:19790449..19792992,2	K562	blood:
7	chr10:19781369..19782958-chr10:19786296..19789278,2	MCF-7	breast:
8	chr10:19785625..19787709-chr10:19788365..19791040,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLXDC2-6	chr10:19778030-19778329	NONHSAT011661
2	lnc-NSUN6-7	chr10:19780001-19780228	NONHSAT011662

No data

Variant related genes	Relation type
HMGN1P20	TF binding region
MALRD1	TF binding region
ENSG00000236960	TF binding region
HMGN1P20	CpG island
MALRD1	CpG island
ENSG00000236960	CpG island
ENSG00000239539	chromatin interactions
ENSG00000204740	chromatin interactions

Extended variants
information (count: 1105 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:1105 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7916522	chr10:19768204-19768205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540041824	chr10:19768207-19768208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374437521	chr10:19768225-19768226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187930488	chr10:19768231-19768232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542193588	chr10:19768269-19768270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4415632	chr10:19768280-19768281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16918829	chr10:19768290-19768291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547361501	chr10:19768294-19768295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573299222	chr10:19768303-19768304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567774399	chr10:19768377-19768378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566009996	chr10:19768383-19768384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536252268	chr10:19768391-19768392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540995342	chr10:19768399-19768400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190015065	chr10:19768401-19768402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182292237	chr10:19768418-19768419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370033307	chr10:19768421-19768422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115992533	chr10:19768424-19768425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186620850	chr10:19768450-19768451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563426278	chr10:19768486-19768487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374727211	chr10:19768548-19768549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192550329	chr10:19768550-19768551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550286983	chr10:19768603-19768604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568511607	chr10:19768651-19768652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535816670	chr10:19768676-19768677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11010114	chr10:19768688-19768689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3904890	chr10:19768707-19768708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76868628	chr10:19768734-19768735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371869498	chr10:19768738-19768739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372136551	chr10:19768752-19768753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558342014	chr10:19768769-19768770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377381005	chr10:19768773-19768774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375335558	chr10:19768780-19768781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576221574	chr10:19768786-19768787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558639266	chr10:19768795-19768796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555023735	chr10:19768802-19768803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386741634	chr10:19768804-19768805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3904888	chr10:19768806-19768807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183706645	chr10:19768862-19768863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76359265	chr10:19768887-19768888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3904887	chr10:19768895-19768896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146650541	chr10:19768914-19768915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530720084	chr10:19768946-19768947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373200033	chr10:19768982-19768983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377661689	chr10:19769010-19769011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550323838	chr10:19769017-19769018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562146353	chr10:19769022-19769023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188769359	chr10:19769024-19769025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547775319	chr10:19769033-19769034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565896743	chr10:19769057-19769058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11592961	chr10:19769058-19769059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19740000-19781200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19751400-19777600	Weak transcription	Fetal Intestine Large	intestine
3	chr10:19756200-19777600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:19768800-19769000	Enhancers	Psoas Muscle	Psoas
5	chr10:19768800-19769600	Enhancers	Aorta	Aorta
6	chr10:19769600-19769800	Enhancers	Psoas Muscle	Psoas
7	chr10:19777200-19777400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:19777200-19777400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:19777200-19777400	Enhancers	Thymus	Thymus
10	chr10:19777200-19778000	Enhancers	Fetal Thymus	thymus
11	chr10:19777200-19778400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:19777400-19777600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:19777400-19777800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:19777400-19777800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:19777400-19777800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr10:19777400-19778200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr10:19777400-19778200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:19777400-19778400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr10:19777400-19778400	Active TSS	Thymus	Thymus
20	chr10:19777400-19778600	Active TSS	Primary hematopoietic stem cells	blood
21	chr10:19777400-19778800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr10:19777400-19778800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:19777600-19777800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr10:19777600-19777800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr10:19777600-19777800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr10:19777600-19777800	Active TSS	Fetal Intestine Small	intestine
27	chr10:19777600-19778200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:19777600-19778200	Active TSS	Brain Anterior Caudate	brain
29	chr10:19777600-19778200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr10:19777600-19778200	Active TSS	Fetal Brain Female	brain
31	chr10:19777600-19778200	Active TSS	Fetal Heart	heart
32	chr10:19777600-19778200	Active TSS	Fetal Lung	lung
33	chr10:19777600-19778200	Active TSS	NHLF	lung
34	chr10:19777600-19778200	Active TSS	Osteobl	bone
35	chr10:19777600-19778400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:19777600-19778400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:19777600-19778400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:19777600-19778400	Active TSS	Adipose Nuclei	Adipose
39	chr10:19777600-19778400	Active TSS	Colon Smooth Muscle	Colon
40	chr10:19777600-19778400	Active TSS	Fetal Intestine Large	intestine
41	chr10:19777600-19778400	Active TSS	Fetal Kidney	kidney
42	chr10:19777600-19778400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr10:19777600-19778400	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr10:19777600-19778600	Active TSS	Aorta	Aorta
45	chr10:19777600-19778600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr10:19777600-19778600	Active TSS	Fetal Stomach	stomach
47	chr10:19777600-19778600	Active TSS	Right Atrium	heart
48	chr10:19777600-19778800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:19777600-19778800	Active TSS	Brain Hippocampus Middle	brain
50	chr10:19777600-19778800	Active TSS	Ovary	ovary

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