Variant report

Variant	nsv947871
Chromosome Location	chr10:42603321-42676682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1475)
CpG islands
(count:979)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1475 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42662289-42662960	GM12878	blood:	n/a	n/a
2	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
3	BATF	chr10:42648105-42648599	GM12878	blood:	n/a	n/a
4	BATF	chr10:42611063-42611437	GM12878	blood:	n/a	n/a
5	BATF	chr10:42666434-42667002	GM12878	blood:	n/a	n/a
6	BATF	chr10:42650167-42650682	GM12878	blood:	n/a	chr10:42650535-42650546
7	BATF	chr10:42676194-42676528	GM12878	blood:	n/a	n/a
8	BATF	chr10:42651846-42652170	GM12878	blood:	n/a	n/a
9	BATF	chr10:42666306-42667023	GM12878	blood:	n/a	n/a
10	BATF	chr10:42648114-42648316	GM12878	blood:	n/a	n/a
11	BATF	chr10:42651843-42652346	GM12878	blood:	n/a	n/a
12	BATF	chr10:42673879-42674402	GM12878	blood:	n/a	n/a
13	BATF	chr10:42612767-42613144	GM12878	blood:	n/a	n/a
14	BATF	chr10:42610545-42610776	GM12878	blood:	n/a	n/a
15	BATF	chr10:42667213-42667659	GM12878	blood:	n/a	n/a
16	BATF	chr10:42673852-42674316	GM12878	blood:	n/a	n/a
17	BATF	chr10:42643179-42643456	GM12878	blood:	n/a	n/a
18	BATF	chr10:42614232-42614528	GM12878	blood:	n/a	n/a
19	BATF	chr10:42664499-42666109	GM12878	blood:	n/a	chr10:42665305-42665316
20	BATF	chr10:42647665-42647940	GM12878	blood:	n/a	n/a
21	BATF	chr10:42667064-42667644	GM12878	blood:	n/a	n/a
22	BATF	chr10:42611144-42611526	GM12878	blood:	n/a	n/a
23	BATF	chr10:42610777-42611041	GM12878	blood:	n/a	n/a
24	BATF	chr10:42647658-42648038	GM12878	blood:	n/a	n/a
25	BATF	chr10:42614296-42614594	GM12878	blood:	n/a	n/a
26	BATF	chr10:42676274-42676463	GM12878	blood:	n/a	n/a
27	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
28	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
29	BATF	chr10:42643277-42643477	GM12878	blood:	n/a	n/a
30	BATF	chr10:42650381-42650675	GM12878	blood:	n/a	chr10:42650535-42650546
31	BATF	chr10:42676678-42677222	GM12878	blood:	n/a	n/a
32	BATF	chr10:42671037-42671253	GM12878	blood:	n/a	n/a
33	BATF	chr10:42610090-42610374	GM12878	blood:	n/a	n/a
34	BATF	chr10:42611560-42611800	GM12878	blood:	n/a	n/a
35	BATF	chr10:42648356-42648599	GM12878	blood:	n/a	n/a
36	BATF	chr10:42661385-42662259	GM12878	blood:	n/a	n/a
37	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
38	BCL11A	chr10:42663146-42664513	GM12878	blood:	n/a	n/a
39	BCL11A	chr10:42647046-42647301	GM12878	blood:	n/a	n/a
40	BCL11A	chr10:42612561-42612758	GM12878	blood:	n/a	n/a
41	BCL11A	chr10:42674640-42674904	GM12878	blood:	n/a	n/a
42	BCL11A	chr10:42611136-42611522	GM12878	blood:	n/a	n/a
43	BCL11A	chr10:42648402-42648579	GM12878	blood:	n/a	n/a
44	BCL11A	chr10:42610547-42611235	GM12878	blood:	n/a	n/a
45	BCL11A	chr10:42666418-42667036	GM12878	blood:	n/a	n/a
46	BCL11A	chr10:42664692-42665853	GM12878	blood:	n/a	n/a
47	BCL11A	chr10:42673892-42674312	GM12878	blood:	n/a	n/a
48	BCL11A	chr10:42657094-42657376	GM12878	blood:	n/a	n/a
49	BCL11A	chr10:42650057-42650664	GM12878	blood:	n/a	n/a
50	BCL11A	chr10:42661318-42662144	GM12878	blood:	n/a	n/a

(count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42673902-42673952	SK-N-MC	brain:	n/a
2	chr10:42672859-42672909	GM12892	blood:	n/a
3	chr10:42644887-42644937	AG04450	lung:	fetal
4	chr10:42673902-42673952	SK-N-MC	brain:	n/a
5	chr10:42672859-42672909	GM12892	blood:	n/a
6	chr10:42644887-42644937	AG04450	lung:	fetal
7	chr10:42642959-42643009	SAEC	small airway:	n/a
8	chr10:42644887-42644937	HRCEpiC	kidney:	n/a
9	chr10:42646111-42646161	AG09309	skin:	n/a
10	chr10:42646111-42646161	ovcar-3	ovarian:	n/a
11	chr10:42608749-42608799	GM06990	blood:	n/a
12	chr10:42649823-42649873	AoSMC	blood vessel:	n/a
13	chr10:42649823-42649873	HCM	heart:	n/a
14	chr10:42633181-42633231	HIPEpiC	eye:	n/a
15	chr10:42672589-42672639	HPAEpiC	pulmonary alveolar:	n/a
16	chr10:42670961-42671011	ProgFib	skin:	n/a
17	chr10:42606808-42606858	HMEC	breast:	n/a
18	chr10:42649823-42649873	HRPEpiC	eye:	n/a
19	chr10:42607194-42607244	HMEC	breast:	n/a
20	chr10:42633181-42633231	NH-A	brain:	n/a
21	chr10:42646111-42646161	NH-A	brain:	n/a
22	chr10:42633181-42633231	AG04449	skin:	fetal
23	chr10:42670961-42671011	MCF10A-Er-Src	breast:	n/a
24	chr10:42644887-42644937	AG04449	skin:	fetal
25	chr10:42670961-42671011	H1-hESC	embryonic stem cell:	embryo
26	chr10:42633559-42633609	H1-hESC	embryonic stem cell:	embryo
27	chr10:42606808-42606858	PFSK-1	brain:	n/a
28	chr10:42633181-42633231	AG10803	skin:	n/a
29	chr10:42646111-42646161	PrEC	prostate:	n/a
30	chr10:42606808-42606858	IMR90	lung:	fetal
31	chr10:42641430-42641480	MCF10A-Er-Src	breast:	n/a
32	chr10:42633559-42633609	PrEC	prostate:	n/a
33	chr10:42633559-42633609	HRPEpiC	eye:	n/a
34	chr10:42607194-42607244	U87	brain:	n/a
35	chr10:42646111-42646161	LNCaP	prostate:	n/a
36	chr10:42672859-42672909	MCF10A-Er-Src	breast:	n/a
37	chr10:42608749-42608799	BJ	skin:	n/a
38	chr10:42633181-42633231	ovcar-3	ovarian:	n/a
39	chr10:42641430-42641480	BJ	skin:	n/a
40	chr10:42646111-42646161	H1-hESC	embryonic stem cell:	embryo
41	chr10:42645466-42645516	HMEC	breast:	n/a
42	chr10:42607695-42607745	AG10803	skin:	n/a
43	chr10:42672859-42672909	K562	blood:	n/a
44	chr10:42642959-42643009	AG09309	skin:	n/a
45	chr10:42607695-42607745	AG04449	skin:	fetal
46	chr10:42645466-42645516	GM12891	blood:	n/a
47	chr10:42673902-42673952	SK-N-SH	brain:	n/a
48	chr10:42607194-42607244	LNCaP	prostate:	n/a
49	chr10:42672859-42672909	HEK293	kidney:	embryo
50	chr10:42673902-42673952	H1-hESC	embryonic stem cell:	embryo

(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: 4801 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4801 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549389098	chr10:42603328-42603329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187351390	chr10:42603336-42603337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376309051	chr10:42603344-42603345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4500439	chr10:42603349-42603350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558050553	chr10:42603367-42603368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571859941	chr10:42603388-42603389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35154868	chr10:42603396-42603397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201839905	chr10:42603397-42603398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554188628	chr10:42603405-42603406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574201637	chr10:42603423-42603424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543006980	chr10:42603426-42603427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556628169	chr10:42603428-42603429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184543681	chr10:42603435-42603436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199947204	chr10:42603452-42603453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189323713	chr10:42603462-42603463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201656080	chr10:42603471-42603472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78849907	chr10:42603476-42603477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564922523	chr10:42603493-42603494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527441317	chr10:42603495-42603496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540872333	chr10:42603505-42603506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202235464	chr10:42603507-42603508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561010710	chr10:42603523-42603524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200017541	chr10:42603537-42603538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529757178	chr10:42603551-42603552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201147079	chr10:42603558-42603559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191179285	chr10:42603560-42603561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184546272	chr10:42603583-42603584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77268832	chr10:42603615-42603616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181223548	chr10:42603638-42603639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571848121	chr10:42603647-42603648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534372288	chr10:42603650-42603651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547686763	chr10:42603652-42603653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186531117	chr10:42603660-42603661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200350368	chr10:42603661-42603662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536770983	chr10:42603688-42603689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189039702	chr10:42603693-42603694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71299632	chr10:42603705-42603706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375307035	chr10:42603706-42603707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540852843	chr10:42603719-42603720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71503917	chr10:42603732-42603733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538664690	chr10:42603736-42603737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186291567	chr10:42603749-42603750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572273167	chr10:42603771-42603772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201837595	chr10:42603782-42603783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543351095	chr10:42603784-42603785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191096026	chr10:42603787-42603788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560785191	chr10:42603799-42603800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184038166	chr10:42603813-42603814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543162512	chr10:42603815-42603816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377178984	chr10:42603822-42603823	Weak transcription	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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42600200-42606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:42602200-42605800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr10:42605800-42608800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr10:42606400-42607800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:42606400-42608800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr10:42606400-42608800	ZNF genes & repeats	Fetal Stomach	stomach
7	chr10:42606400-42609000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:42606600-42608400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr10:42606800-42608400	ZNF genes & repeats	Placenta	Placenta
10	chr10:42614400-42614800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr10:42638400-42638800	Active TSS	Fetal Heart	heart
12	chr10:42639400-42639600	Weak transcription	Fetal Heart	heart
13	chr10:42640000-42644600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr10:42640200-42640800	Active TSS	Fetal Heart	heart
15	chr10:42640400-42641800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr10:42640400-42642400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:42640400-42644800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr10:42640600-42641000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr10:42640600-42641200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:42640600-42641200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr10:42640600-42641200	ZNF genes & repeats	Lung	lung
22	chr10:42640600-42641200	ZNF genes & repeats	Pancreas	Pancrea
23	chr10:42640600-42641400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:42640600-42641400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:42640600-42641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:42640600-42646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:42640800-42641400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
28	chr10:42640800-42641400	ZNF genes & repeats	Gastric	stomach
29	chr10:42640800-42641800	Weak transcription	Fetal Heart	heart
30	chr10:42641000-42645400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr10:42641600-42643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:42641800-42642200	Active TSS	Fetal Heart	heart
33	chr10:42643400-42645200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:42643400-42645800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr10:42643600-42645000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
36	chr10:42643600-42645200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr10:42643600-42646000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:42643600-42646000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:42643600-42646200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:42643800-42646400	ZNF genes & repeats	Fetal Stomach	stomach
41	chr10:42644000-42645400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr10:42644000-42646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:42644000-42646600	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr10:42644200-42644600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr10:42644200-42644800	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr10:42644200-42645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr10:42644200-42645400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr10:42644200-42645600	ZNF genes & repeats	Thymus	Thymus
49	chr10:42644200-42646000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr10:42644200-42646200	ZNF genes & repeats	Lung	lung

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