Variant report

Variant	esv1835982
Chromosome Location	chr10:18833550-18872699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:329)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:18854097-18854130	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:18855015-18855499	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:18847006-18847183	HepG2	liver:	n/a	n/a
4	ARID3A	chr10:18852867-18853155	HepG2	liver:	n/a	n/a
5	ARID3A	chr10:18871855-18872156	K562	blood:	n/a	n/a
6	ARID3A	chr10:18872609-18872929	K562	blood:	n/a	n/a
7	ARID3A	chr10:18850803-18851483	HepG2	liver:	n/a	n/a
8	ARID3A	chr10:18843485-18843910	HepG2	liver:	n/a	n/a
9	ATF1	chr10:18871829-18872244	K562	blood:	n/a	n/a
10	BRCA1	chr10:18860127-18860500	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
13	CBX3	chr10:18866819-18867030	K562	blood:	n/a	n/a
14	CBX3	chr10:18866717-18867121	K562	blood:	n/a	n/a
15	CEBPB	chr10:18855132-18855383	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr10:18872595-18872894	K562	blood:	n/a	n/a
17	CEBPB	chr10:18854245-18854618	K562	blood:	n/a	n/a
18	CHD2	chr10:18854418-18854541	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
20	CTCF	chr10:18872640-18872790	HepG2	liver:	n/a	n/a
21	CTCF	chr10:18872540-18872690	GM12873	blood:	n/a	n/a
22	CTCF	chr10:18872560-18872710	GM12864	blood:	n/a	n/a
23	CTCF	chr10:18872533-18872823	IMR90	lung:	n/a	n/a
24	CTCF	chr10:18872480-18872630	WI-38	lung:	n/a	n/a
25	CTCF	chr10:18872620-18872770	HMEC	breast:	n/a	n/a
26	CTCF	chr10:18872620-18872770	GM06990	blood:	n/a	n/a
27	CTCF	chr10:18872560-18872710	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr10:18872600-18872750	HEK293	kidney:	n/a	n/a
29	CTCF	chr10:18838160-18838310	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr10:18872580-18872730	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr10:18872620-18872770	AG04450	lung:	n/a	n/a
32	CTCF	chr10:18872620-18872770	HPF	lung:	n/a	n/a
33	CTCF	chr10:18872660-18872810	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr10:18872600-18872750	HMEC	breast:	n/a	n/a
35	CTCF	chr10:18872600-18872750	BE2_C	brain:	n/a	n/a
36	CTCF	chr10:18872660-18872810	AG10803	skin:	n/a	n/a
37	CTCF	chr10:18872620-18872770	GM12875	blood:	n/a	n/a
38	CTCF	chr10:18872560-18872710	HFF	foreskin:	n/a	n/a
39	CTCF	chr10:18872620-18872770	AG09319	gingival:	n/a	n/a
40	CTCF	chr10:18872640-18872790	K562	blood:	n/a	n/a
41	CTCF	chr10:18872680-18872830	MCF-7	breast:	n/a	n/a
42	CTCF	chr10:18872640-18872790	HEK293	kidney:	n/a	n/a
43	CTCF	chr10:18872600-18872750	GM12872	blood:	n/a	n/a
44	CTCF	chr10:18872598-18872757	K562	blood:	n/a	n/a
45	CTCF	chr10:18872620-18872770	GM12865	blood:	n/a	n/a
46	CTCF	chr10:18872560-18872710	Caco-2	colon:	n/a	n/a
47	CTCF	chr10:18872600-18872750	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr10:18872520-18872670	HRE	kidney:	n/a	n/a
49	CTCF	chr10:18872640-18872790	RPTEC	kidney:	n/a	n/a
50	CTCF	chr10:18872540-18872690	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18872028..18874928-chr10:18946049..18948722,4	K562	blood:
2	chr10:18871041..18872755-chr10:18938799..18941399,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN6-1	chr10:18834394-18834580	ENSG00000240291.1

No data

Variant related genes	Relation type
NSUN6	TF binding region
ENSG00000240291	TF binding region
ENSG00000152487	chromatin interactions
ENSG00000165997	chromatin interactions
ENSG00000241058	chromatin interactions

Extended variants
information (count: 2244 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:2244 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11014769	chr10:18833550-18833551	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578186264	chr10:18833569-18833570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186581700	chr10:18833593-18833594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55768177	chr10:18833620-18833621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138092337	chr10:18833641-18833642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149516166	chr10:18833662-18833663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200890844	chr10:18833673-18833674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs45450191	chr10:18833675-18833676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12773567	chr10:18833676-18833677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs373565620	chr10:18833753-18833754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183458783	chr10:18833755-18833756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74680065	chr10:18833761-18833762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560630472	chr10:18833764-18833765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144106951	chr10:18833798-18833799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148693573	chr10:18833799-18833800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10764583	chr10:18833812-18833813	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs12764334	chr10:18833841-18833842	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs67334960	chr10:18833928-18833929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398054161	chr10:18833931-18833932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532208029	chr10:18833942-18833943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571566593	chr10:18834037-18834038	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs11818510	chr10:18834038-18834039	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569188389	chr10:18834044-18834045	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537413163	chr10:18834071-18834072	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555826295	chr10:18834113-18834114	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs79415085	chr10:18834122-18834123	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567637958	chr10:18834282-18834283	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535159852	chr10:18834300-18834301	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553195396	chr10:18834326-18834327	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578093746	chr10:18834328-18834329	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527666087	chr10:18834333-18834334	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544927385	chr10:18834338-18834339	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557205353	chr10:18834367-18834368	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538978337	chr10:18834374-18834375	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142249296	chr10:18834412-18834413	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs542202123	chr10:18834528-18834529	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs80342829	chr10:18834646-18834647	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200588344	chr10:18834657-18834658	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs373525672	chr10:18834658-18834659	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560593295	chr10:18834679-18834680	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs528168608	chr10:18834681-18834682	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188511855	chr10:18834739-18834740	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564836754	chr10:18834763-18834764	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532297311	chr10:18834790-18834791	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs115922162	chr10:18834796-18834797	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs148733898	chr10:18834797-18834798	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375322555	chr10:18834798-18834799	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs373614347	chr10:18834805-18834806	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs75967699	chr10:18834809-18834810	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs58257898	chr10:18834810-18834811	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18815200-18843600	Weak transcription	A549	lung
2	chr10:18816400-18841800	Strong transcription	Liver	Liver
3	chr10:18820800-18841600	Weak transcription	Hela-S3	cervix
4	chr10:18822000-18840400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:18822400-18833600	Strong transcription	Primary T cells from cord blood	blood
7	chr10:18822800-18841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:18823400-18834800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:18823600-18836600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:18824200-18834800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:18824200-18846200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr10:18824200-18850600	Weak transcription	NHLF	lung
13	chr10:18825000-18835800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:18825600-18841800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:18827000-18835800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr10:18827200-18842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:18827200-18845200	Weak transcription	NHEK	skin
18	chr10:18827400-18841600	Weak transcription	HMEC	breast
19	chr10:18827600-18839400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:18828200-18835000	Weak transcription	Fetal Brain Male	brain
21	chr10:18828600-18837800	Weak transcription	Psoas Muscle	Psoas
22	chr10:18828600-18838800	Weak transcription	Colonic Mucosa	Colon
23	chr10:18828600-18841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:18828600-18841600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:18828600-18841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:18828600-18841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:18828600-18841800	Weak transcription	Pancreas	Pancrea
28	chr10:18828600-18843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:18828600-18843400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:18828600-18844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:18828600-18845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:18828800-18846000	Weak transcription	Spleen	Spleen
33	chr10:18829000-18840400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:18829000-18841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
36	chr10:18829800-18833600	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:18829800-18837400	Weak transcription	GM12878-XiMat	blood
38	chr10:18829800-18838000	Weak transcription	Right Ventricle	heart
39	chr10:18829800-18844000	Weak transcription	Brain Angular Gyrus	brain
40	chr10:18830000-18842000	Weak transcription	Fetal Brain Female	brain
41	chr10:18830000-18842400	Weak transcription	Brain Germinal Matrix	brain
42	chr10:18830200-18841400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:18830200-18841800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr10:18830200-18841800	Weak transcription	Aorta	Aorta
45	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
46	chr10:18830400-18833800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr10:18830400-18833800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr10:18830400-18834000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:18830400-18834400	Weak transcription	HSMM	muscle
50	chr10:18830400-18837000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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