Variant report

Variant	nsv550626
Chromosome Location	chr10:42638556-42680407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1302)
CpG islands
(count:671)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1302 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42676274-42676463	GM12878	blood:	n/a	n/a
2	BATF	chr10:42673852-42674316	GM12878	blood:	n/a	n/a
3	BATF	chr10:42666306-42667023	GM12878	blood:	n/a	n/a
4	BATF	chr10:42667064-42667644	GM12878	blood:	n/a	n/a
5	BATF	chr10:42661385-42662259	GM12878	blood:	n/a	n/a
6	BATF	chr10:42651843-42652346	GM12878	blood:	n/a	n/a
7	BATF	chr10:42648114-42648316	GM12878	blood:	n/a	n/a
8	BATF	chr10:42651846-42652170	GM12878	blood:	n/a	n/a
9	BATF	chr10:42667213-42667659	GM12878	blood:	n/a	n/a
10	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
11	BATF	chr10:42671037-42671253	GM12878	blood:	n/a	n/a
12	BATF	chr10:42676678-42677222	GM12878	blood:	n/a	n/a
13	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
14	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
15	BATF	chr10:42643277-42643477	GM12878	blood:	n/a	n/a
16	BATF	chr10:42664499-42666109	GM12878	blood:	n/a	chr10:42665305-42665316
17	BATF	chr10:42648356-42648599	GM12878	blood:	n/a	n/a
18	BATF	chr10:42676194-42676528	GM12878	blood:	n/a	n/a
19	BATF	chr10:42678896-42679605	GM12878	blood:	n/a	n/a
20	BATF	chr10:42647658-42648038	GM12878	blood:	n/a	n/a
21	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
22	BATF	chr10:42678393-42678733	GM12878	blood:	n/a	n/a
23	BATF	chr10:42650381-42650675	GM12878	blood:	n/a	chr10:42650535-42650546
24	BATF	chr10:42643179-42643456	GM12878	blood:	n/a	n/a
25	BATF	chr10:42647665-42647940	GM12878	blood:	n/a	n/a
26	BATF	chr10:42648105-42648599	GM12878	blood:	n/a	n/a
27	BATF	chr10:42678782-42679680	GM12878	blood:	n/a	n/a
28	BATF	chr10:42650167-42650682	GM12878	blood:	n/a	chr10:42650535-42650546
29	BATF	chr10:42666434-42667002	GM12878	blood:	n/a	n/a
30	BATF	chr10:42673879-42674402	GM12878	blood:	n/a	n/a
31	BATF	chr10:42662289-42662960	GM12878	blood:	n/a	n/a
32	BATF	chr10:42677087-42677277	GM12878	blood:	n/a	n/a
33	BCL11A	chr10:42648101-42648339	GM12878	blood:	n/a	n/a
34	BCL11A	chr10:42664523-42666119	GM12878	blood:	n/a	n/a
35	BCL11A	chr10:42676707-42676961	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:42661292-42663036	GM12878	blood:	n/a	n/a
37	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
38	BCL11A	chr10:42650006-42650744	GM12878	blood:	n/a	n/a
39	BCL11A	chr10:42667099-42667656	GM12878	blood:	n/a	n/a
40	BCL11A	chr10:42679981-42680151	GM12878	blood:	n/a	n/a
41	BCL11A	chr10:42647616-42648021	GM12878	blood:	n/a	n/a
42	BCL11A	chr10:42677828-42678108	GM12878	blood:	n/a	n/a
43	BCL11A	chr10:42678728-42679747	GM12878	blood:	n/a	n/a
44	BCL11A	chr10:42666418-42667036	GM12878	blood:	n/a	n/a
45	BCL11A	chr10:42648402-42648579	GM12878	blood:	n/a	n/a
46	BCL11A	chr10:42650057-42650664	GM12878	blood:	n/a	n/a
47	BCL11A	chr10:42663146-42664513	GM12878	blood:	n/a	n/a
48	BCL11A	chr10:42662296-42663182	GM12878	blood:	n/a	n/a
49	BCL11A	chr10:42664692-42665853	GM12878	blood:	n/a	n/a
50	BCL11A	chr10:42657094-42657376	GM12878	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42641430-42641480	SK-N-SH	brain:	n/a
2	chr10:42677108-42677158	LNCaP	prostate:	n/a
3	chr10:42641430-42641480	HUVEC	blood vessel:	n/a
4	chr10:42673902-42673952	AG04450	lung:	fetal
5	chr10:42670961-42671011	AG10803	skin:	n/a
6	chr10:42644887-42644937	BJ	skin:	n/a
7	chr10:42677108-42677158	GM06990	blood:	n/a
8	chr10:42642959-42643009	SK-N-MC	brain:	n/a
9	chr10:42670961-42671011	NB4	blood:	n/a
10	chr10:42673902-42673952	HRCEpiC	kidney:	n/a
11	chr10:42672859-42672909	Caco-2	colon:	n/a
12	chr10:42642959-42643009	MCF-7	breast:	n/a
13	chr10:42673902-42673952	PrEC	prostate:	n/a
14	chr10:42641430-42641480	HEK293	kidney:	embryo
15	chr10:42672859-42672909	Hepatocyte	liver:	n/a
16	chr10:42670961-42671011	LNCaP	prostate:	n/a
17	chr10:42677108-42677158	SAEC	small airway:	n/a
18	chr10:42642959-42643009	Hela-S3	cervix:	n/a
19	chr10:42646111-42646161	HCT-116	colon:	n/a
20	chr10:42646111-42646161	A549	lung:	n/a
21	chr10:42677108-42677158	HCT-116	colon:	n/a
22	chr10:42672859-42672909	A549	lung:	n/a
23	chr10:42670961-42671011	Hepatocyte	liver:	n/a
24	chr10:42641430-42641480	HMEC	breast:	n/a
25	chr10:42672589-42672639	Hela-S3	cervix:	n/a
26	chr10:42649823-42649873	HIPEpiC	eye:	n/a
27	chr10:42672589-42672639	HEEpiC	esophagus:	n/a
28	chr10:42672859-42672909	NB4	blood:	n/a
29	chr10:42672589-42672639	PrEC	prostate:	n/a
30	chr10:42641430-42641480	HRE	kidney:	n/a
31	chr10:42646111-42646161	HepG2	liver:	n/a
32	chr10:42672589-42672639	U87	brain:	n/a
33	chr10:42645466-42645516	GM06990	blood:	n/a
34	chr10:42646111-42646161	GM12892	blood:	n/a
35	chr10:42672589-42672639	SK-N-MC	brain:	n/a
36	chr10:42645466-42645516	AoSMC	blood vessel:	n/a
37	chr10:42673902-42673952	GM19239	blood:	n/a
38	chr10:42642959-42643009	HRE	kidney:	n/a
39	chr10:42644887-42644937	H1-hESC	embryonic stem cell:	embryo
40	chr10:42649823-42649873	HCM	heart:	n/a
41	chr10:42672589-42672639	AG09309	skin:	n/a
42	chr10:42641430-42641480	U87	brain:	n/a
43	chr10:42673902-42673952	H1-hESC	embryonic stem cell:	embryo
44	chr10:42673902-42673952	U87	brain:	n/a
45	chr10:42677108-42677158	HRCEpiC	kidney:	n/a
46	chr10:42670961-42671011	HCM	heart:	n/a
47	chr10:42672589-42672639	HCF	heart:	n/a
48	chr10:42672589-42672639	AG04449	skin:	fetal
49	chr10:42641430-42641480	SK-N-MC	brain:	n/a
50	chr10:42642959-42643009	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:42673795..42674377-chr10:42765091..42765784,2	MCF-7	breast:
2	chr10:42673929..42674445-chr10:43600657..43601190,2	K562	blood:

No data

Variant related genes	Relation type
KSR1P1	TF binding region
IGKV1OR10-1	TF binding region
KSR1P1	CpG island
IGKV1OR10-1	CpG island

Extended variants
information (count: 4226 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4226 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66502870	chr10:42638556-42638557	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60211520	chr10:42638561-42638562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528154935	chr10:42638564-42638565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547806634	chr10:42638571-42638572	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201904734	chr10:42638576-42638577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567686641	chr10:42638584-42638585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369832412	chr10:42638594-42638595	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373947541	chr10:42638605-42638606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35318131	chr10:42638615-42638616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs71539836	chr10:42638620-42638621	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550012849	chr10:42638623-42638624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35423142	chr10:42638624-42638625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs78279129	chr10:42638630-42638631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187567619	chr10:42638632-42638633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377061942	chr10:42638635-42638636	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs202075863	chr10:42638640-42638641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76672717	chr10:42638643-42638644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79156068	chr10:42638644-42638645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs79930012	chr10:42638646-42638647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs78171538	chr10:42638658-42638659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74838559	chr10:42638659-42638660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75144526	chr10:42638663-42638664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75018029	chr10:42638664-42638665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187354650	chr10:42638667-42638668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370540343	chr10:42638668-42638669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79861088	chr10:42638672-42638673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201301719	chr10:42638676-42638677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76450840	chr10:42638683-42638684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76682146	chr10:42638687-42638688	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77389297	chr10:42638693-42638694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs76008255	chr10:42638697-42638698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs414256	chr10:42638703-42638704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77629779	chr10:42638706-42638707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76364078	chr10:42638708-42638709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs80038668	chr10:42638712-42638713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs80026864	chr10:42638716-42638717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558868864	chr10:42638721-42638722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78449008	chr10:42638726-42638727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs35897088	chr10:42638728-42638729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78007728	chr10:42638732-42638733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77127400	chr10:42638733-42638734	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77707813	chr10:42638736-42638737	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs199561464	chr10:42638738-42638739	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs35444706	chr10:42638740-42638741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75132179	chr10:42638749-42638750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192735672	chr10:42638752-42638753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78717506	chr10:42638758-42638759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs78966674	chr10:42638761-42638762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs77180920	chr10:42638765-42638766	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534780285	chr10:42638766-42638767	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42638400-42638800	Active TSS	Fetal Heart	heart
2	chr10:42639400-42639600	Weak transcription	Fetal Heart	heart
3	chr10:42640000-42644600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr10:42640200-42640800	Active TSS	Fetal Heart	heart
5	chr10:42640400-42641800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr10:42640400-42642400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:42640400-42644800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr10:42640600-42641000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr10:42640600-42641200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:42640600-42641200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr10:42640600-42641200	ZNF genes & repeats	Lung	lung
12	chr10:42640600-42641200	ZNF genes & repeats	Pancreas	Pancrea
13	chr10:42640600-42641400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:42640600-42641400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:42640600-42641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:42640600-42646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:42640800-42641400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr10:42640800-42641400	ZNF genes & repeats	Gastric	stomach
19	chr10:42640800-42641800	Weak transcription	Fetal Heart	heart
20	chr10:42641000-42645400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr10:42641600-42643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:42641800-42642200	Active TSS	Fetal Heart	heart
23	chr10:42643400-42645200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:42643400-42645800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr10:42643600-42645000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
26	chr10:42643600-42645200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr10:42643600-42646000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:42643600-42646000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:42643600-42646200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:42643800-42646400	ZNF genes & repeats	Fetal Stomach	stomach
31	chr10:42644000-42645400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr10:42644000-42646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:42644000-42646600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr10:42644200-42644600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr10:42644200-42644800	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr10:42644200-42645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr10:42644200-42645400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr10:42644200-42645600	ZNF genes & repeats	Thymus	Thymus
39	chr10:42644200-42646000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr10:42644200-42646200	ZNF genes & repeats	Lung	lung
41	chr10:42644200-42646400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:42644400-42645400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:42644400-42645600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr10:42644400-42645800	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr10:42644400-42645800	ZNF genes & repeats	Spleen	Spleen
46	chr10:42644400-42646600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:42644400-42646600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr10:42644400-42646600	ZNF genes & repeats	Pancreas	Pancrea
49	chr10:42644600-42645800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:42644600-42645800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

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