Variant report

Variant	nsv550649
Chromosome Location	chr10:42662467-42680407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:774)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42664499-42666109	GM12878	blood:	n/a	chr10:42665305-42665316
2	BATF	chr10:42676678-42677222	GM12878	blood:	n/a	n/a
3	BATF	chr10:42676194-42676528	GM12878	blood:	n/a	n/a
4	BATF	chr10:42673852-42674316	GM12878	blood:	n/a	n/a
5	BATF	chr10:42671037-42671253	GM12878	blood:	n/a	n/a
6	BATF	chr10:42662289-42662960	GM12878	blood:	n/a	n/a
7	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
8	BATF	chr10:42666434-42667002	GM12878	blood:	n/a	n/a
9	BATF	chr10:42678896-42679605	GM12878	blood:	n/a	n/a
10	BATF	chr10:42667064-42667644	GM12878	blood:	n/a	n/a
11	BATF	chr10:42666306-42667023	GM12878	blood:	n/a	n/a
12	BATF	chr10:42667213-42667659	GM12878	blood:	n/a	n/a
13	BATF	chr10:42676274-42676463	GM12878	blood:	n/a	n/a
14	BATF	chr10:42678782-42679680	GM12878	blood:	n/a	n/a
15	BATF	chr10:42678393-42678733	GM12878	blood:	n/a	n/a
16	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
17	BATF	chr10:42677087-42677277	GM12878	blood:	n/a	n/a
18	BATF	chr10:42673879-42674402	GM12878	blood:	n/a	n/a
19	BCL11A	chr10:42666418-42667036	GM12878	blood:	n/a	n/a
20	BCL11A	chr10:42676056-42676510	GM12878	blood:	n/a	n/a
21	BCL11A	chr10:42676208-42676416	GM12878	blood:	n/a	n/a
22	BCL11A	chr10:42661292-42663036	GM12878	blood:	n/a	n/a
23	BCL11A	chr10:42677046-42677285	GM12878	blood:	n/a	n/a
24	BCL11A	chr10:42667099-42667656	GM12878	blood:	n/a	n/a
25	BCL11A	chr10:42677876-42678057	GM12878	blood:	n/a	n/a
26	BCL11A	chr10:42678781-42679602	GM12878	blood:	n/a	n/a
27	BCL11A	chr10:42663146-42664513	GM12878	blood:	n/a	n/a
28	BCL11A	chr10:42674640-42674904	GM12878	blood:	n/a	n/a
29	BCL11A	chr10:42677828-42678108	GM12878	blood:	n/a	n/a
30	BCL11A	chr10:42664523-42666119	GM12878	blood:	n/a	n/a
31	BCL11A	chr10:42673810-42674313	GM12878	blood:	n/a	n/a
32	BCL11A	chr10:42667269-42667681	GM12878	blood:	n/a	n/a
33	BCL11A	chr10:42664692-42665853	GM12878	blood:	n/a	n/a
34	BCL11A	chr10:42673892-42674312	GM12878	blood:	n/a	n/a
35	BCL11A	chr10:42674588-42674874	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:42678728-42679747	GM12878	blood:	n/a	n/a
37	BCL11A	chr10:42662296-42663182	GM12878	blood:	n/a	n/a
38	BCL11A	chr10:42679981-42680151	GM12878	blood:	n/a	n/a
39	BCL11A	chr10:42676707-42676961	GM12878	blood:	n/a	n/a
40	BHLHE40	chr10:42664114-42664435	HepG2	liver:	n/a	n/a
41	BHLHE40	chr10:42662276-42662958	HepG2	liver:	n/a	n/a
42	BHLHE40	chr10:42664558-42665152	HepG2	liver:	n/a	n/a
43	BHLHE40	chr10:42663639-42664098	HepG2	liver:	n/a	n/a
44	BHLHE40	chr10:42679059-42679552	HepG2	liver:	n/a	n/a
45	BHLHE40	chr10:42665164-42665737	HepG2	liver:	n/a	n/a
46	BHLHE40	chr10:42666425-42666810	HepG2	liver:	n/a	n/a
47	BHLHE40	chr10:42673799-42674154	HepG2	liver:	n/a	n/a
48	CEBPD	chr10:42665462-42665786	K562	blood:	n/a	n/a
49	CEBPD	chr10:42664665-42665194	K562	blood:	n/a	n/a
50	CEBPD	chr10:42664067-42664520	K562	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42672589-42672639	BE2_C	brain:	n/a
2	chr10:42672589-42672639	BE2_C	brain:	n/a
3	chr10:42672589-42672639	K562	blood:	n/a
4	chr10:42673902-42673952	BE2_C	brain:	n/a
5	chr10:42670961-42671011	K562	blood:	n/a
6	chr10:42673902-42673952	PANC-1	pancreas:	n/a
7	chr10:42670961-42671011	AG04449	skin:	fetal
8	chr10:42677108-42677158	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:42672859-42672909	AoSMC	blood vessel:	n/a
10	chr10:42677108-42677158	HEEpiC	esophagus:	n/a
11	chr10:42677108-42677158	NHBE	bronchial:	n/a
12	chr10:42677108-42677158	AG09309	skin:	n/a
13	chr10:42672589-42672639	HMEC	breast:	n/a
14	chr10:42673902-42673952	HCT-116	colon:	n/a
15	chr10:42670961-42671011	HRCEpiC	kidney:	n/a
16	chr10:42677108-42677158	RPTEC	kidney:	n/a
17	chr10:42672859-42672909	AG04449	skin:	fetal
18	chr10:42672859-42672909	K562	blood:	n/a
19	chr10:42670961-42671011	PrEC	prostate:	n/a
20	chr10:42670961-42671011	HNPCEpiC	eye:	n/a
21	chr10:42677108-42677158	MCF10A-Er-Src	breast:	n/a
22	chr10:42670961-42671011	H1-hESC	embryonic stem cell:	embryo
23	chr10:42673902-42673952	HAEpiC	amniotic membrane:	n/a
24	chr10:42673902-42673952	GM12878	blood:	n/a
25	chr10:42672589-42672639	HIPEpiC	eye:	n/a
26	chr10:42672589-42672639	GM19239	blood:	n/a
27	chr10:42673902-42673952	GM12892	blood:	n/a
28	chr10:42670961-42671011	IMR90	lung:	fetal
29	chr10:42670961-42671011	PFSK-1	brain:	n/a
30	chr10:42672589-42672639	HRPEpiC	eye:	n/a
31	chr10:42672859-42672909	BJ	skin:	n/a
32	chr10:42673902-42673952	IMR90	lung:	fetal
33	chr10:42672589-42672639	NT2-D1	testis:	n/a
34	chr10:42670961-42671011	HRPEpiC	eye:	n/a
35	chr10:42673902-42673952	SK-N-MC	brain:	n/a
36	chr10:42673902-42673952	AG04450	lung:	fetal
37	chr10:42670961-42671011	SK-N-MC	brain:	n/a
38	chr10:42670961-42671011	Hepatocyte	liver:	n/a
39	chr10:42673902-42673952	SK-N-SH_RA	brain:	n/a
40	chr10:42672589-42672639	RPTEC	kidney:	n/a
41	chr10:42670961-42671011	SAEC	small airway:	n/a
42	chr10:42672859-42672909	HEK293	kidney:	embryo
43	chr10:42673902-42673952	HRCEpiC	kidney:	n/a
44	chr10:42677108-42677158	PANC-1	pancreas:	n/a
45	chr10:42670961-42671011	GM12878	blood:	n/a
46	chr10:42677108-42677158	LNCaP	prostate:	n/a
47	chr10:42670961-42671011	HCF	heart:	n/a
48	chr10:42670961-42671011	GM12892	blood:	n/a
49	chr10:42673902-42673952	SK-N-SH	brain:	n/a
50	chr10:42672589-42672639	NB4	blood:	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
IGKV1OR10-1	TF binding region
IGKV1OR10-1	CpG island

Extended variants
information (count: 1616 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540186893	chr10:42662469-42662470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111209069	chr10:42662486-42662487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189695477	chr10:42662490-42662491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199807103	chr10:42662496-42662497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528821862	chr10:42662497-42662498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143584795	chr10:42662507-42662508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548595671	chr10:42662515-42662516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568663661	chr10:42662517-42662518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201513647	chr10:42662519-42662520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199532727	chr10:42662520-42662521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111209070	chr10:42662551-42662552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369577871	chr10:42662553-42662554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201755212	chr10:42662557-42662558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111209071	chr10:42662558-42662559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147799374	chr10:42662577-42662578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201347240	chr10:42662581-42662582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539460526	chr10:42662591-42662592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200150041	chr10:42662592-42662593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202028758	chr10:42662604-42662605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553375919	chr10:42662612-42662613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566749281	chr10:42662613-42662614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535769243	chr10:42662615-42662616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145189055	chr10:42662621-42662622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555359801	chr10:42662624-42662625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201101232	chr10:42662640-42662641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575526488	chr10:42662656-42662657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149578918	chr10:42662657-42662658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182324138	chr10:42662660-42662661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111209072	chr10:42662662-42662663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557887933	chr10:42662667-42662668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140564511	chr10:42662674-42662675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144946302	chr10:42662679-42662680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377361191	chr10:42662680-42662681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370714649	chr10:42662689-42662690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368860186	chr10:42662706-42662707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540321406	chr10:42662711-42662712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560138117	chr10:42662714-42662715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374364514	chr10:42662716-42662717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201127110	chr10:42662720-42662721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374753647	chr10:42662721-42662722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145644935	chr10:42662725-42662726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376361467	chr10:42662728-42662729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377732155	chr10:42662729-42662730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111216981	chr10:42662734-42662735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200994893	chr10:42662740-42662741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542541653	chr10:42662746-42662747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201347864	chr10:42662752-42662753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201957837	chr10:42662754-42662755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200591375	chr10:42662755-42662756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373862009	chr10:42662764-42662765	ZNF genes & repeats Weak transcription	n/a	n/a	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:128 , 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	chr10:42661200-42662600	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr10:42661200-42663000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:42661200-42663200	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr10:42661200-42663200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
11	chr10:42661200-42664400	ZNF genes & repeats	Brain Angular Gyrus	brain
12	chr10:42661200-42667000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr10:42661200-42667200	ZNF genes & repeats	Brain Substantia Nigra	brain
14	chr10:42661200-42667400	ZNF genes & repeats	K562	blood
15	chr10:42661200-42667600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr10:42661200-42667600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:42661200-42667600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr10:42661200-42667600	ZNF genes & repeats	Fetal Brain Male	brain
21	chr10:42661200-42667600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr10:42661200-42667800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr10:42661200-42667800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:42661200-42667800	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr10:42661200-42667800	ZNF genes & repeats	Fetal Heart	heart
26	chr10:42661200-42667800	ZNF genes & repeats	Fetal Lung	lung
27	chr10:42661200-42668000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr10:42661200-42668200	ZNF genes & repeats	Liver	Liver
29	chr10:42661400-42667200	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr10:42661400-42667200	ZNF genes & repeats	GM12878-XiMat	blood
31	chr10:42661400-42667400	ZNF genes & repeats	HepG2	liver
32	chr10:42661400-42667600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
33	chr10:42661400-42667600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr10:42661400-42667600	ZNF genes & repeats	Fetal Kidney	kidney
35	chr10:42661400-42667600	ZNF genes & repeats	HUVEC	blood vessel
36	chr10:42661400-42667800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr10:42661600-42666800	Weak transcription	NHDF-Ad	bronchial
38	chr10:42661800-42662800	Weak transcription	NHEK	skin
39	chr10:42662800-42663000	ZNF genes & repeats	NHEK	skin
40	chr10:42663600-42664200	ZNF genes & repeats	NH-A	brain
41	chr10:42666000-42667600	ZNF genes & repeats	Gastric	stomach
42	chr10:42666800-42667400	ZNF genes & repeats	NH-A	brain
43	chr10:42666800-42667600	ZNF genes & repeats	NHDF-Ad	bronchial
44	chr10:42667200-42667600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr10:42667200-42667600	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr10:42667800-42668200	Weak transcription	NHDF-Ad	bronchial
47	chr10:42668000-42668200	Weak transcription	Fetal Lung	lung
48	chr10:42668000-42668400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:42668200-42673400	Weak transcription	Liver	Liver
50	chr10:42672400-42672600	Active TSS	Psoas Muscle	Psoas

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