Variant report

Variant	nsv948310
Chromosome Location	chr10:42676682-42680580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:266)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42678393-42678733	GM12878	blood:	n/a	n/a
2	BATF	chr10:42677087-42677277	GM12878	blood:	n/a	n/a
3	BATF	chr10:42678782-42679680	GM12878	blood:	n/a	n/a
4	BATF	chr10:42678896-42679605	GM12878	blood:	n/a	n/a
5	BATF	chr10:42676678-42677222	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:42677876-42678057	GM12878	blood:	n/a	n/a
7	BCL11A	chr10:42679981-42680151	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:42677046-42677285	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:42676707-42676961	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:42678728-42679747	GM12878	blood:	n/a	n/a
11	BCL11A	chr10:42677828-42678108	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:42678781-42679602	GM12878	blood:	n/a	n/a
13	BHLHE40	chr10:42679059-42679552	HepG2	liver:	n/a	n/a
14	CTCF	chr10:42679440-42679590	BE2_C	brain:	n/a	n/a
15	CTCF	chr10:42679420-42679570	GM12864	blood:	n/a	n/a
16	CTCF	chr10:42679400-42679550	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr10:42679400-42679550	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr10:42679420-42679570	K562	blood:	n/a	n/a
19	CTCF	chr10:42679480-42679630	GM12875	blood:	n/a	n/a
20	CTCF	chr10:42679400-42679550	GM12864	blood:	n/a	n/a
21	CTCF	chr10:42679400-42679550	HMEC	breast:	n/a	n/a
22	CTCF	chr10:42679322-42679381	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr10:42679420-42679570	GM12872	blood:	n/a	n/a
24	CTCF	chr10:42679500-42679650	HepG2	liver:	n/a	n/a
25	CTCF	chr10:42679400-42679550	NHEK	skin:	n/a	n/a
26	CTCF	chr10:42679400-42679550	AG09309	skin:	n/a	n/a
27	CTCF	chr10:42679308-42679466	Medullo	brain:	n/a	n/a
28	CTCF	chr10:42679328-42679339	HepG2	liver:	n/a	n/a
29	CTCF	chr10:42679440-42679590	GM12868	blood:	n/a	n/a
30	CTCF	chr10:42679343-42679403	MCF-7	breast:	n/a	n/a
31	CTCF	chr10:42679238-42679476	LNCaP	prostate:	n/a	n/a
32	CTCF	chr10:42679098-42679564	A549	lung:	n/a	n/a
33	CTCF	chr10:42679317-42679443	A549	lung:	n/a	n/a
34	CTCF	chr10:42679334-42679356	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr10:42679190-42679514	K562	blood:	n/a	n/a
36	CTCF	chr10:42679337-42679425	ProgFib	skin:	n/a	n/a
37	CTCF	chr10:42679420-42679570	HFF	foreskin:	n/a	n/a
38	CTCF	chr10:42679386-42679486	Fibrobl	skin:	n/a	n/a
39	CTCF	chr10:42679400-42679550	HCFaa	heart:	n/a	n/a
40	CTCF	chr10:42679305-42679463	LNCaP	prostate:	n/a	n/a
41	CTCF	chr10:42679560-42679810	NHEK	skin:	n/a	n/a
42	CTCF	chr10:42679440-42679590	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:42679327-42679467	MCF-7	breast:	n/a	n/a
44	CTCF	chr10:42679440-42679590	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr10:42679520-42679670	GM12870	blood:	n/a	n/a
46	CTCF	chr10:42679166-42679504	A549	lung:	n/a	n/a
47	CTCF	chr10:42679500-42679650	BJ	skin:	n/a	n/a
48	CTCF	chr10:42679178-42679724	A549	lung:	n/a	n/a
49	CTCF	chr10:42679046-42679684	A549	lung:	n/a	n/a
50	CTCF	chr10:42679500-42679650	HEK293	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42677108-42677158	HEK293	kidney:	embryo
2	chr10:42677108-42677158	HepG2	liver:	n/a
3	chr10:42677108-42677158	HCF	heart:	n/a
4	chr10:42677108-42677158	NB4	blood:	n/a
5	chr10:42677108-42677158	SAEC	small airway:	n/a
6	chr10:42677108-42677158	MCF10A-Er-Src	breast:	n/a
7	chr10:42677108-42677158	AG09309	skin:	n/a
8	chr10:42677108-42677158	PANC-1	pancreas:	n/a
9	chr10:42677108-42677158	HEEpiC	esophagus:	n/a
10	chr10:42677108-42677158	SK-N-SH_RA	brain:	n/a
11	chr10:42677108-42677158	NH-A	brain:	n/a
12	chr10:42677108-42677158	HRPEpiC	eye:	n/a
13	chr10:42677108-42677158	SK-N-SH	brain:	n/a
14	chr10:42677108-42677158	GM12891	blood:	n/a
15	chr10:42677108-42677158	HRCEpiC	kidney:	n/a
16	chr10:42677108-42677158	ProgFib	skin:	n/a
17	chr10:42677108-42677158	BJ	skin:	n/a
18	chr10:42677108-42677158	GM12892	blood:	n/a
19	chr10:42677108-42677158	HIPEpiC	eye:	n/a
20	chr10:42677108-42677158	HCT-116	colon:	n/a
21	chr10:42677108-42677158	K562	blood:	n/a
22	chr10:42677108-42677158	NHBE	bronchial:	n/a
23	chr10:42677108-42677158	HUVEC	blood vessel:	n/a
24	chr10:42677108-42677158	Jurkat	blood:	n/a
25	chr10:42677108-42677158	BE2_C	brain:	n/a
26	chr10:42677108-42677158	T-47D	breast:	n/a
27	chr10:42677108-42677158	HMEC	breast:	n/a
28	chr10:42677108-42677158	U87	brain:	n/a
29	chr10:42677108-42677158	HRE	kidney:	n/a
30	chr10:42677108-42677158	GM19239	blood:	n/a
31	chr10:42677108-42677158	AoSMC	blood vessel:	n/a
32	chr10:42677108-42677158	AG04450	lung:	fetal
33	chr10:42677108-42677158	HCPEpiC	choroid plexus:	n/a
34	chr10:42677108-42677158	SKMC	muscle:	n/a
35	chr10:42677108-42677158	LNCaP	prostate:	n/a
36	chr10:42677108-42677158	Caco-2	colon:	n/a
37	chr10:42677108-42677158	HCM	heart:	n/a
38	chr10:42677108-42677158	HAEpiC	amniotic membrane:	n/a
39	chr10:42677108-42677158	Hela-S3	cervix:	n/a
40	chr10:42677108-42677158	NHDF-neo	bronchial:	n/a
41	chr10:42677108-42677158	Hepatocyte	liver:	n/a
42	chr10:42677108-42677158	RPTEC	kidney:	n/a
43	chr10:42677108-42677158	NT2-D1	testis:	n/a
44	chr10:42677108-42677158	MCF-7	breast:	n/a
45	chr10:42677108-42677158	ovcar-3	ovarian:	n/a
46	chr10:42677108-42677158	CMK	blood:	n/a
47	chr10:42677108-42677158	AG04449	skin:	fetal
48	chr10:42677108-42677158	SK-N-MC	brain:	n/a
49	chr10:42677108-42677158	H1-hESC	embryonic stem cell:	embryo
50	chr10:42677108-42677158	GM12878	blood:	n/a

No data

Variant related genes	Relation type
IGKV1OR10-1	TF binding region
IGKV1OR10-1	CpG island

Extended variants
information (count: 229 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4611163	chr10:42676690-42676691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs367748954	chr10:42676691-42676692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139977409	chr10:42676738-42676739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201229106	chr10:42676741-42676742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190528668	chr10:42676743-42676744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs202102155	chr10:42676753-42676754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200439511	chr10:42676782-42676783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs180716576	chr10:42676841-42676842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs558382122	chr10:42676844-42676845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199784691	chr10:42676850-42676851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571918698	chr10:42676857-42676858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs534553605	chr10:42676873-42676874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs531489845	chr10:42676890-42676891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551398496	chr10:42676911-42676912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375857998	chr10:42676958-42676959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200357094	chr10:42676995-42676996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376062729	chr10:42677023-42677024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201311362	chr10:42677035-42677036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs61847791	chr10:42677044-42677045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs7910751	chr10:42677056-42677057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574473740	chr10:42677075-42677076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs7903319	chr10:42677082-42677083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs543491733	chr10:42677119-42677120	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs28411208	chr10:42677161-42677162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557014155	chr10:42677214-42677215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576881263	chr10:42677223-42677224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7903581	chr10:42677259-42677260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7893902	chr10:42677268-42677269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545721682	chr10:42677270-42677271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs565538156	chr10:42677279-42677280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs527978426	chr10:42677280-42677281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541309610	chr10:42677322-42677323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7903704	chr10:42677323-42677324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571486276	chr10:42677334-42677335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs77605358	chr10:42677342-42677343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs530152080	chr10:42677343-42677344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs7921966	chr10:42677349-42677350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12413536	chr10:42677354-42677355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549835320	chr10:42677360-42677361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569716057	chr10:42677361-42677362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs71503949	chr10:42677370-42677371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs61847792	chr10:42677374-42677375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9703924	chr10:42677376-42677377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs71503950	chr10:42677389-42677390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs80286426	chr10:42677390-42677391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs79681331	chr10:42677396-42677397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs185333181	chr10:42677408-42677409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565880357	chr10:42677413-42677414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201553083	chr10:42677715-42677716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572679629	chr10:42677716-42677717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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