Variant report

Variant	nsv550667
Chromosome Location	chr10:42666762-42721667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1231)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42676194-42676528	GM12878	blood:	n/a	n/a
2	BATF	chr10:42671037-42671253	GM12878	blood:	n/a	n/a
3	BATF	chr10:42666434-42667002	GM12878	blood:	n/a	n/a
4	BATF	chr10:42673852-42674316	GM12878	blood:	n/a	n/a
5	BATF	chr10:42667064-42667644	GM12878	blood:	n/a	n/a
6	BATF	chr10:42691041-42691261	GM12878	blood:	n/a	n/a
7	BATF	chr10:42697926-42698033	GM12878	blood:	n/a	n/a
8	BATF	chr10:42683465-42683803	GM12878	blood:	n/a	n/a
9	BATF	chr10:42676274-42676463	GM12878	blood:	n/a	n/a
10	BATF	chr10:42684572-42684848	GM12878	blood:	n/a	n/a
11	BATF	chr10:42696631-42696866	GM12878	blood:	n/a	n/a
12	BATF	chr10:42673879-42674402	GM12878	blood:	n/a	n/a
13	BATF	chr10:42677087-42677277	GM12878	blood:	n/a	n/a
14	BATF	chr10:42678393-42678733	GM12878	blood:	n/a	n/a
15	BATF	chr10:42681006-42681427	GM12878	blood:	n/a	n/a
16	BATF	chr10:42678896-42679605	GM12878	blood:	n/a	n/a
17	BATF	chr10:42704531-42704782	GM12878	blood:	n/a	chr10:42704640-42704651
18	BATF	chr10:42704442-42704772	GM12878	blood:	n/a	chr10:42704640-42704651
19	BATF	chr10:42666306-42667023	GM12878	blood:	n/a	n/a
20	BATF	chr10:42683418-42684038	GM12878	blood:	n/a	n/a
21	BATF	chr10:42684802-42685128	GM12878	blood:	n/a	n/a
22	BATF	chr10:42678782-42679680	GM12878	blood:	n/a	n/a
23	BATF	chr10:42667213-42667659	GM12878	blood:	n/a	n/a
24	BATF	chr10:42681054-42681429	GM12878	blood:	n/a	n/a
25	BATF	chr10:42684889-42685225	GM12878	blood:	n/a	n/a
26	BATF	chr10:42676678-42677222	GM12878	blood:	n/a	n/a
27	BCL11A	chr10:42673892-42674312	GM12878	blood:	n/a	n/a
28	BCL11A	chr10:42705685-42705867	GM12878	blood:	n/a	n/a
29	BCL11A	chr10:42703088-42703254	GM12878	blood:	n/a	n/a
30	BCL11A	chr10:42677046-42677285	GM12878	blood:	n/a	n/a
31	BCL11A	chr10:42674640-42674904	GM12878	blood:	n/a	n/a
32	BCL11A	chr10:42704553-42704791	GM12878	blood:	n/a	n/a
33	BCL11A	chr10:42676707-42676961	GM12878	blood:	n/a	n/a
34	BCL11A	chr10:42666418-42667036	GM12878	blood:	n/a	n/a
35	BCL11A	chr10:42673810-42674313	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:42684825-42685022	GM12878	blood:	n/a	n/a
37	BCL11A	chr10:42683453-42683798	GM12878	blood:	n/a	n/a
38	BCL11A	chr10:42674588-42674874	GM12878	blood:	n/a	n/a
39	BCL11A	chr10:42677876-42678057	GM12878	blood:	n/a	n/a
40	BCL11A	chr10:42687857-42688167	GM12878	blood:	n/a	n/a
41	BCL11A	chr10:42677828-42678108	GM12878	blood:	n/a	n/a
42	BCL11A	chr10:42667269-42667681	GM12878	blood:	n/a	n/a
43	BCL11A	chr10:42680920-42681123	GM12878	blood:	n/a	n/a
44	BCL11A	chr10:42679981-42680151	GM12878	blood:	n/a	n/a
45	BCL11A	chr10:42698731-42698923	GM12878	blood:	n/a	n/a
46	BCL11A	chr10:42678728-42679747	GM12878	blood:	n/a	n/a
47	BCL11A	chr10:42681018-42681251	GM12878	blood:	n/a	n/a
48	BCL11A	chr10:42676056-42676510	GM12878	blood:	n/a	n/a
49	BCL11A	chr10:42704506-42704681	GM12878	blood:	n/a	n/a
50	BCL11A	chr10:42678781-42679602	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42673902-42673952	AoSMC	blood vessel:	n/a
2	chr10:42672859-42672909	NH-A	brain:	n/a
3	chr10:42677108-42677158	HEK293	kidney:	embryo
4	chr10:42670961-42671011	AG09319	gingival:	n/a
5	chr10:42673902-42673952	PFSK-1	brain:	n/a
6	chr10:42672859-42672909	SK-N-SH	brain:	n/a
7	chr10:42670961-42671011	BJ	skin:	n/a
8	chr10:42670961-42671011	H1-hESC	embryonic stem cell:	embryo
9	chr10:42677108-42677158	A549	lung:	n/a
10	chr10:42672859-42672909	T-47D	breast:	n/a
11	chr10:42677108-42677158	U87	brain:	n/a
12	chr10:42672859-42672909	NHDF-neo	bronchial:	n/a
13	chr10:42672859-42672909	ProgFib	skin:	n/a
14	chr10:42672859-42672909	IMR90	lung:	fetal
15	chr10:42677108-42677158	GM12878	blood:	n/a
16	chr10:42670961-42671011	NHDF-neo	bronchial:	n/a
17	chr10:42672589-42672639	ProgFib	skin:	n/a
18	chr10:42670961-42671011	NB4	blood:	n/a
19	chr10:42677108-42677158	AG09319	gingival:	n/a
20	chr10:42672589-42672639	HL-60	blood:	n/a
21	chr10:42672589-42672639	MCF-7	breast:	n/a
22	chr10:42670961-42671011	AoSMC	blood vessel:	n/a
23	chr10:42672589-42672639	PrEC	prostate:	n/a
24	chr10:42672589-42672639	HIPEpiC	eye:	n/a
25	chr10:42672589-42672639	GM19239	blood:	n/a
26	chr10:42673902-42673952	HMEC	breast:	n/a
27	chr10:42672589-42672639	RPTEC	kidney:	n/a
28	chr10:42673902-42673952	BE2_C	brain:	n/a
29	chr10:42673902-42673952	T-47D	breast:	n/a
30	chr10:42673902-42673952	ProgFib	skin:	n/a
31	chr10:42670961-42671011	ECC-1	luminal epithelium:	n/a
32	chr10:42672589-42672639	NH-A	brain:	n/a
33	chr10:42673902-42673952	GM19239	blood:	n/a
34	chr10:42670961-42671011	SAEC	small airway:	n/a
35	chr10:42677108-42677158	AG04449	skin:	fetal
36	chr10:42670961-42671011	NHBE	bronchial:	n/a
37	chr10:42677108-42677158	HIPEpiC	eye:	n/a
38	chr10:42672589-42672639	SK-N-MC	brain:	n/a
39	chr10:42672589-42672639	AG04449	skin:	fetal
40	chr10:42672589-42672639	SK-N-SH	brain:	n/a
41	chr10:42673902-42673952	GM12892	blood:	n/a
42	chr10:42677108-42677158	HRE	kidney:	n/a
43	chr10:42673902-42673952	SKMC	muscle:	n/a
44	chr10:42677108-42677158	HPAEpiC	pulmonary alveolar:	n/a
45	chr10:42677108-42677158	BE2_C	brain:	n/a
46	chr10:42672859-42672909	HRE	kidney:	n/a
47	chr10:42672859-42672909	HRCEpiC	kidney:	n/a
48	chr10:42673902-42673952	PrEC	prostate:	n/a
49	chr10:42673902-42673952	BJ	skin:	n/a
50	chr10:42672859-42672909	Hepatocyte	liver:	n/a

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-9	chr10:42686975-42687136	NONHSAT012855
2	lnc-BMS1-8	chr10:42705438-42705831	NONHSAT012856
3	lnc-BMS1-9	chr10:42687963-42689514	NONHSAT012855

No data

Variant related genes	Relation type
IGKV1OR10-1	TF binding region
ENSG00000271650	TF binding region
IGKV1OR10-1	CpG island
ENSG00000271650	CpG island

Extended variants
information (count: 1375 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1375 , 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	rs12774940	chr10:42666762-42666763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62650175	chr10:42666764-42666765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62650176	chr10:42666771-42666772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373045150	chr10:42666777-42666778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62650177	chr10:42666789-42666790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552646509	chr10:42666794-42666795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62650178	chr10:42666795-42666796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62650179	chr10:42666799-42666800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376398658	chr10:42666804-42666805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62637942	chr10:42666810-42666811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534782230	chr10:42666811-42666812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62639312	chr10:42666817-42666818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs548221304	chr10:42666822-42666823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs62639313	chr10:42666824-42666825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62639314	chr10:42666828-42666829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200131888	chr10:42666834-42666835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568090028	chr10:42666845-42666846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536980454	chr10:42666857-42666858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs118198171	chr10:42666862-42666863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200916296	chr10:42666864-42666865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559877832	chr10:42666866-42666867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556941240	chr10:42666867-42666868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112287017	chr10:42666868-42666869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs199810136	chr10:42666871-42666872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201117487	chr10:42666876-42666877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539211595	chr10:42666880-42666881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs202171286	chr10:42666881-42666882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553041053	chr10:42666908-42666909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573022874	chr10:42666909-42666910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62639315	chr10:42666910-42666911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111940335	chr10:42666913-42666914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540388523	chr10:42666926-42666927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62639512	chr10:42666928-42666929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368468565	chr10:42666931-42666932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371989106	chr10:42666934-42666935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149368151	chr10:42666945-42666946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376897331	chr10:42666955-42666956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377248769	chr10:42666961-42666962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575279481	chr10:42666978-42666979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371499704	chr10:42666983-42666984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146002667	chr10:42666984-42666985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs368679637	chr10:42666985-42666986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78619823	chr10:42666993-42666994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374360632	chr10:42666999-42667000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371687314	chr10:42667004-42667005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544118590	chr10:42667007-42667008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563784227	chr10:42667011-42667012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12768050	chr10:42667012-42667013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552538737	chr10:42667016-42667017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559514896	chr10:42667019-42667020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42655800-42668200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42660000-42668200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr10:42660400-42668000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:42660400-42668000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr10:42660600-42668000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:42661000-42667600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr10:42661200-42667000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr10:42661200-42667200	ZNF genes & repeats	Brain Substantia Nigra	brain
9	chr10:42661200-42667400	ZNF genes & repeats	K562	blood
10	chr10:42661200-42667600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr10:42661200-42667600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:42661200-42667600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
13	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr10:42661200-42667600	ZNF genes & repeats	Fetal Brain Male	brain
16	chr10:42661200-42667600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr10:42661200-42667800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr10:42661200-42667800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:42661200-42667800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr10:42661200-42667800	ZNF genes & repeats	Fetal Heart	heart
21	chr10:42661200-42667800	ZNF genes & repeats	Fetal Lung	lung
22	chr10:42661200-42668000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr10:42661200-42668200	ZNF genes & repeats	Liver	Liver
24	chr10:42661400-42667200	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr10:42661400-42667200	ZNF genes & repeats	GM12878-XiMat	blood
26	chr10:42661400-42667400	ZNF genes & repeats	HepG2	liver
27	chr10:42661400-42667600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
28	chr10:42661400-42667600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr10:42661400-42667600	ZNF genes & repeats	Fetal Kidney	kidney
30	chr10:42661400-42667600	ZNF genes & repeats	HUVEC	blood vessel
31	chr10:42661400-42667800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr10:42661600-42666800	Weak transcription	NHDF-Ad	bronchial
33	chr10:42666000-42667600	ZNF genes & repeats	Gastric	stomach
34	chr10:42666800-42667400	ZNF genes & repeats	NH-A	brain
35	chr10:42666800-42667600	ZNF genes & repeats	NHDF-Ad	bronchial
36	chr10:42667200-42667600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr10:42667200-42667600	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr10:42667800-42668200	Weak transcription	NHDF-Ad	bronchial
39	chr10:42668000-42668200	Weak transcription	Fetal Lung	lung
40	chr10:42668000-42668400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:42668200-42673400	Weak transcription	Liver	Liver
42	chr10:42672400-42672600	Active TSS	Psoas Muscle	Psoas
43	chr10:42672600-42672800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr10:42672600-42672800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
45	chr10:42672600-42672800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:42672600-42672800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:42672600-42672800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:42672600-42672800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:42672600-42673000	Enhancers	Primary B cells from peripheral blood	blood
50	chr10:42672600-42673000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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