Variant report

Variant	nsv550043
Chromosome Location	chr10:18837285-18859153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:18843485-18843910	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:18852867-18853155	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:18850803-18851483	HepG2	liver:	n/a	n/a
4	ARID3A	chr10:18855015-18855499	HepG2	liver:	n/a	n/a
5	ARID3A	chr10:18854097-18854130	HepG2	liver:	n/a	n/a
6	ARID3A	chr10:18847006-18847183	HepG2	liver:	n/a	n/a
7	BRCA1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr10:18855132-18855383	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr10:18854245-18854618	K562	blood:	n/a	n/a
10	CHD2	chr10:18854418-18854541	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr10:18838160-18838310	SK-N-SH_RA	brain:	n/a	n/a
12	ELK1	chr10:18848238-18848610	Hela-S3	cervix:	n/a	n/a
13	EP300	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
14	GTF2F1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
15	GTF2F1	chr10:18854245-18854618	Hela-S3	cervix:	n/a	n/a
16	GTF2F1	chr10:18854245-18854445	H1-hESC	embryonic stem cell:	n/a	n/a
17	IKZF1	chr10:18845498-18849999	GM12878	blood:	n/a	n/a
18	IKZF1	chr10:18843536-18844319	GM12878	blood:	n/a	n/a
19	IKZF1	chr10:18850718-18859452	GM12878	blood:	n/a	n/a
20	MAFF	chr10:18854245-18854590	K562	blood:	n/a	n/a
21	MAFK	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr10:18854248-18854618	K562	blood:	n/a	n/a
23	MAZ	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
24	MXI1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr10:18854245-18854618	Hela-S3	cervix:	n/a	n/a
26	NRF1	chr10:18841901-18841931	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:18842256-18842342	K562	blood:	n/a	n/a
28	POLR2A	chr10:18849551-18850584	K562	blood:	n/a	n/a
29	POLR2A	chr10:18852269-18852579	K562	blood:	n/a	n/a
30	POLR2A	chr10:18854830-18855005	K562	blood:	n/a	n/a
31	POLR2A	chr10:18858442-18858534	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:18852589-18852767	K562	blood:	n/a	n/a
33	POLR2A	chr10:18848323-18848547	K562	blood:	n/a	n/a
34	POLR2A	chr10:18856008-18856021	K562	blood:	n/a	n/a
35	POLR2A	chr10:18848825-18849255	K562	blood:	n/a	n/a
36	POLR2A	chr10:18838104-18838229	K562	blood:	n/a	n/a
37	POLR2A	chr10:18856448-18856713	K562	blood:	n/a	n/a
38	POLR2A	chr10:18840802-18840826	ProgFib	skin:	n/a	n/a
39	POLR2A	chr10:18847509-18847700	K562	blood:	n/a	n/a
40	POLR2A	chr10:18844151-18844413	K562	blood:	n/a	n/a
41	POLR2A	chr10:18853986-18854095	K562	blood:	n/a	n/a
42	POLR2A	chr10:18845591-18845617	MCF10A-Er-Src	breast:	n/a	n/a
43	PRDM1	chr10:18854245-18854585	Hela-S3	cervix:	n/a	chr10:18854377-18854392
44	RCOR1	chr10:18854245-18854445	Hela-S3	cervix:	n/a	n/a
45	RCOR1	chr10:18854418-18854618	K562	blood:	n/a	n/a
46	RCOR1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
47	REST	chr10:18848667-18849027	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr10:18847019-18847295	H1-hESC	embryonic stem cell:	n/a	n/a
49	RFX5	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
50	SMC3	chr10:18843200-18843376	Hela-S3	cervix:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000240291	TF binding region
NSUN6	TF binding region

Extended variants
information (count: 1369 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3817494	chr10:18837285-18837286	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191084123	chr10:18837294-18837295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111591727	chr10:18837318-18837319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182273985	chr10:18837346-18837347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565786407	chr10:18837377-18837378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113736340	chr10:18837412-18837413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557563351	chr10:18837428-18837429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187106859	chr10:18837527-18837528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77757904	chr10:18837537-18837538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138029157	chr10:18837543-18837544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141714908	chr10:18837573-18837574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542230698	chr10:18837631-18837632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560362397	chr10:18837648-18837649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72787951	chr10:18837656-18837657	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs11014797	chr10:18837677-18837678	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564718031	chr10:18837723-18837724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531946463	chr10:18837749-18837750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150563774	chr10:18837794-18837795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10764587	chr10:18837830-18837831	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528851931	chr10:18837836-18837837	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192016076	chr10:18837925-18837926	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565621820	chr10:18837930-18837931	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11014800	chr10:18838046-18838047	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369249790	chr10:18838060-18838061	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551157764	chr10:18838062-18838063	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183385050	chr10:18838092-18838093	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536856781	chr10:18838096-18838097	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187188599	chr10:18838103-18838104	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189927893	chr10:18838115-18838116	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs373396908	chr10:18838184-18838185	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs80247227	chr10:18838193-18838194	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572446534	chr10:18838219-18838220	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546276078	chr10:18838223-18838224	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs577844427	chr10:18838224-18838225	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs576678421	chr10:18838228-18838229	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544054537	chr10:18838255-18838256	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11014805	chr10:18838266-18838267	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77193833	chr10:18838293-18838294	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138617038	chr10:18838311-18838312	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149322289	chr10:18838321-18838322	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560381116	chr10:18838325-18838326	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532767963	chr10:18838387-18838388	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191281060	chr10:18838396-18838397	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370527643	chr10:18838405-18838406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530091999	chr10:18838421-18838422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146282102	chr10:18838422-18838423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530597039	chr10:18838427-18838428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182234792	chr10:18838429-18838430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11819409	chr10:18838437-18838438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139488945	chr10:18838451-18838452	Weak transcription Strong transcription Enhancers	n/a	n/a	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:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr10:18822800-18841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:18824200-18846200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:18824200-18850600	Weak transcription	NHLF	lung
9	chr10:18825600-18841800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:18827200-18842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:18827200-18845200	Weak transcription	NHEK	skin
12	chr10:18827400-18841600	Weak transcription	HMEC	breast
13	chr10:18827600-18839400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:18828600-18837800	Weak transcription	Psoas Muscle	Psoas
15	chr10:18828600-18838800	Weak transcription	Colonic Mucosa	Colon
16	chr10:18828600-18841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:18828600-18841600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:18828600-18841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:18828600-18841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:18828600-18841800	Weak transcription	Pancreas	Pancrea
21	chr10:18828600-18843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:18828600-18843400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:18828600-18844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:18828600-18845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:18828800-18846000	Weak transcription	Spleen	Spleen
26	chr10:18829000-18840400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:18829000-18841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
29	chr10:18829800-18837400	Weak transcription	GM12878-XiMat	blood
30	chr10:18829800-18838000	Weak transcription	Right Ventricle	heart
31	chr10:18829800-18844000	Weak transcription	Brain Angular Gyrus	brain
32	chr10:18830000-18842000	Weak transcription	Fetal Brain Female	brain
33	chr10:18830000-18842400	Weak transcription	Brain Germinal Matrix	brain
34	chr10:18830200-18841400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:18830200-18841800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr10:18830200-18841800	Weak transcription	Aorta	Aorta
37	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
38	chr10:18830400-18837800	Weak transcription	Primary B cells from cord blood	blood
39	chr10:18830400-18838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:18830400-18839200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:18830400-18840000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:18830400-18840200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:18830400-18840400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:18830400-18840400	Weak transcription	Brain Anterior Caudate	brain
45	chr10:18830400-18840400	Weak transcription	HSMMtube	muscle
46	chr10:18830400-18841600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr10:18830400-18841800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:18830400-18841800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:18830400-18841800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:18830400-18841800	Weak transcription	Brain Cingulate Gyrus	brain

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