Variant report

Variant	nsv825377
Chromosome Location	chr10:51886486-51918064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr10:51903317-51903550	HepG2	liver:	n/a	n/a
2	CTCF	chr10:51888186-51888267	GM13976	blood:	n/a	n/a
3	CTCF	chr10:51912652-51912757	GM13976	blood:	n/a	n/a
4	CTCF	chr10:51912640-51912790	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr10:51912630-51912712	GM19240	blood:	n/a	n/a
6	CTCF	chr10:51902967-51903051	GM20000	blood:	n/a	n/a
7	CTCF	chr10:51887800-51887917	LNCaP	prostate:	n/a	chr10:51887834-51887847 chr10:51887827-51887848 chr10:51887872-51887885 chr10:51887816-51887824 chr10:51887832-51887850 chr10:51887817-51887825 chr10:51887837-51887846 chr10:51887872-51887885
8	CTCF	chr10:51902238-51902253	GM10266	blood:	n/a	n/a
9	CTCF	chr10:51897106-51897155	GM13977	blood:	n/a	n/a
10	CTCF	chr10:51912768-51912811	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr10:51887691-51888009	K562	blood:	n/a	chr10:51887834-51887847 chr10:51887827-51887848 chr10:51887872-51887885 chr10:51887816-51887824 chr10:51887832-51887850 chr10:51887817-51887825 chr10:51887837-51887846 chr10:51887872-51887885
12	CTCF	chr10:51912578-51912723	K562	blood:	n/a	n/a
13	CTCF	chr10:51891227-51891373	GM13976	blood:	n/a	n/a
14	CTCF	chr10:51904301-51904409	GM20000	blood:	n/a	n/a
15	CTCF	chr10:51890186-51890225	LNCaP	prostate:	n/a	n/a
16	CTCF	chr10:51896089-51896194	LNCaP	prostate:	n/a	n/a
17	CTCF	chr10:51912475-51912606	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr10:51909455-51909496	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr10:51904986-51905064	GM10266	blood:	n/a	n/a
20	CTCF	chr10:51901658-51901722	Medullo	brain:	n/a	n/a
21	CTCF	chr10:51900267-51900352	GM20000	blood:	n/a	n/a
22	CTCF	chr10:51890791-51890836	GM13977	blood:	n/a	n/a
23	CTCF	chr10:51905395-51905456	GM13977	blood:	n/a	n/a
24	CTCF	chr10:51906087-51906172	GM13976	blood:	n/a	n/a
25	CTCF	chr10:51887742-51888087	K562	blood:	n/a	chr10:51887834-51887847 chr10:51887827-51887848 chr10:51887872-51887885 chr10:51887816-51887824 chr10:51887832-51887850 chr10:51887817-51887825 chr10:51887837-51887846 chr10:51887872-51887885
26	CTCF	chr10:51890774-51890878	Lung_OC	lung:	n/a	n/a
27	CTCF	chr10:51902102-51902188	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr10:51903262-51903355	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr10:51913213-51913304	GM20000	blood:	n/a	n/a
30	CTCF	chr10:51912755-51912759	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr10:51911548-51911674	GM20000	blood:	n/a	n/a
32	CTCF	chr10:51887759-51887932	Medullo	brain:	n/a	chr10:51887834-51887847 chr10:51887827-51887848 chr10:51887872-51887885 chr10:51887816-51887824 chr10:51887832-51887850 chr10:51887817-51887825 chr10:51887837-51887846 chr10:51887872-51887885
33	CTCF	chr10:51913311-51913342	GM20000	blood:	n/a	n/a
34	CTCF	chr10:51887674-51888040	K562	blood:	n/a	chr10:51887834-51887847 chr10:51887827-51887848 chr10:51887872-51887885 chr10:51887816-51887824 chr10:51887832-51887850 chr10:51887817-51887825 chr10:51887837-51887846 chr10:51887872-51887885
35	CTCF	chr10:51904470-51904568	GM20000	blood:	n/a	n/a
36	CTCF	chr10:51912418-51912442	Lung_OC	lung:	n/a	n/a
37	CTCF	chr10:51906222-51906300	GM20000	blood:	n/a	n/a
38	CTCF	chr10:51918048-51918151	GM20000	blood:	n/a	n/a
39	FOSL2	chr10:51903563-51904054	HepG2	liver:	n/a	chr10:51903829-51903840
40	FOSL2	chr10:51903274-51903551	HepG2	liver:	n/a	n/a
41	FOSL2	chr10:51903598-51904342	HepG2	liver:	n/a	chr10:51903829-51903840
42	FOSL2	chr10:51906102-51906410	HepG2	liver:	n/a	n/a
43	FOXA1	chr10:51903149-51904177	HepG2	liver:	n/a	n/a
44	FOXA1	chr10:51906149-51906414	HepG2	liver:	n/a	n/a
45	JUND	chr10:51903325-51903603	HepG2	liver:	n/a	n/a
46	JUND	chr10:51903675-51903993	HepG2	liver:	n/a	n/a
47	JUND	chr10:51903368-51903564	HepG2	liver:	n/a	n/a
48	JUND	chr10:51903721-51903932	HepG2	liver:	n/a	n/a
49	MYC	chr10:51892739-51892843	GM12878	blood:	n/a	n/a
50	PAX5	chr10:51895229-51895437	GM12878	blood:	n/a	chr10:51895308-51895326 chr10:51895309-51895328

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:51912805-51912855	SK-N-SH_RA	brain:	n/a
2	chr10:51911889-51911939	HEK293	kidney:	embryo
3	chr10:51912631-51912681	SK-N-SH_RA	brain:	n/a
4	chr10:51911889-51911939	Hepatocyte	liver:	n/a
5	chr10:51912631-51912681	BJ	skin:	n/a
6	chr10:51912631-51912681	PANC-1	pancreas:	n/a
7	chr10:51912805-51912855	GM06990	blood:	n/a
8	chr10:51912631-51912681	HRE	kidney:	n/a
9	chr10:51911889-51911939	HAEpiC	amniotic membrane:	n/a
10	chr10:51912631-51912681	NT2-D1	testis:	n/a
11	chr10:51912805-51912855	CMK	blood:	n/a
12	chr10:51911889-51911939	PrEC	prostate:	n/a
13	chr10:51912631-51912681	T-47D	breast:	n/a
14	chr10:51912631-51912681	GM06990	blood:	n/a
15	chr10:51912805-51912855	AG09309	skin:	n/a
16	chr10:51912805-51912855	HepG2	liver:	n/a
17	chr10:51911889-51911939	Hela-S3	cervix:	n/a
18	chr10:51911889-51911939	MCF-7	breast:	n/a
19	chr10:51911889-51911939	HCPEpiC	choroid plexus:	n/a
20	chr10:51911889-51911939	A549	lung:	n/a
21	chr10:51911889-51911939	GM12891	blood:	n/a
22	chr10:51911889-51911939	HRE	kidney:	n/a
23	chr10:51911889-51911939	K562	blood:	n/a
24	chr10:51912805-51912855	HPAEpiC	pulmonary alveolar:	n/a
25	chr10:51912805-51912855	NH-A	brain:	n/a
26	chr10:51911889-51911939	H1-hESC	embryonic stem cell:	embryo
27	chr10:51912805-51912855	ovcar-3	ovarian:	n/a
28	chr10:51912805-51912855	HMEC	breast:	n/a
29	chr10:51912631-51912681	HCPEpiC	choroid plexus:	n/a
30	chr10:51911889-51911939	GM19239	blood:	n/a
31	chr10:51911889-51911939	GM12878	blood:	n/a
32	chr10:51912631-51912681	HL-60	blood:	n/a
33	chr10:51911889-51911939	NH-A	brain:	n/a
34	chr10:51912631-51912681	HIPEpiC	eye:	n/a
35	chr10:51912805-51912855	HCM	heart:	n/a
36	chr10:51911889-51911939	U87	brain:	n/a
37	chr10:51911889-51911939	SKMC	muscle:	n/a
38	chr10:51911889-51911939	ECC-1	luminal epithelium:	n/a
39	chr10:51912631-51912681	Caco-2	colon:	n/a
40	chr10:51912631-51912681	MCF-7	breast:	n/a
41	chr10:51911889-51911939	NT2-D1	testis:	n/a
42	chr10:51912631-51912681	HCF	heart:	n/a
43	chr10:51912631-51912681	IMR90	lung:	fetal
44	chr10:51912805-51912855	BE2_C	brain:	n/a
45	chr10:51912631-51912681	HNPCEpiC	eye:	n/a
46	chr10:51912631-51912681	Hela-S3	cervix:	n/a
47	chr10:51912631-51912681	SAEC	small airway:	n/a
48	chr10:51912805-51912855	K562	blood:	n/a
49	chr10:51911889-51911939	ProgFib	skin:	n/a
50	chr10:51912805-51912855	HEK293	kidney:	embryo

Variant related genes	Relation type
SLC9A3P1	TF binding region
SLC9A3P1	CpG island

Extended variants
information (count: 155 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112443072	chr10:51887422-51887423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576736035	chr10:51887542-51887543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545487967	chr10:51887719-51887720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529234090	chr10:51888096-51888097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556179695	chr10:51888121-51888122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576105998	chr10:51888272-51888273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542038255	chr10:51888332-51888333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561900215	chr10:51888369-51888370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2669768	chr10:51888388-51888389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527563138	chr10:51888389-51888390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2669767	chr10:51888402-51888403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186788091	chr10:51888412-51888413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191637429	chr10:51888440-51888441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111572410	chr10:51888443-51888444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549954343	chr10:51888482-51888483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2338072	chr10:51888557-51888558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185858514	chr10:51888562-51888563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549142641	chr10:51888809-51888810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565905383	chr10:51888829-51888830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534901899	chr10:51888841-51888842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551614909	chr10:51888863-51888864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571848189	chr10:51888997-51888998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539418336	chr10:51889019-51889020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555929154	chr10:51889111-51889112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190172043	chr10:51889145-51889146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371353909	chr10:51889146-51889147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374910730	chr10:51889157-51889158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535574375	chr10:51889182-51889183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555524419	chr10:51889183-51889184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572237385	chr10:51889189-51889190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370231804	chr10:51889211-51889212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541237468	chr10:51889321-51889322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564359168	chr10:51889375-51889376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577899274	chr10:51889614-51889615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543782780	chr10:51889815-51889816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563559800	chr10:51889817-51889818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529269673	chr10:51889904-51889905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549029968	chr10:51889926-51889927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562663957	chr10:51890369-51890370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559427087	chr10:51890458-51890459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528612236	chr10:51890477-51890478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78369021	chr10:51890577-51890578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372236284	chr10:51890666-51890667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376582947	chr10:51890677-51890678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112307181	chr10:51891701-51891702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551736593	chr10:51891881-51891882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375311421	chr10:51891914-51891915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571902761	chr10:51891923-51891924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537380370	chr10:51891976-51891977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549730219	chr10:51892193-51892194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51828600-51891800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr10:51828600-51893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:51828800-51889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:51836400-51894000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:51852800-51892000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:51858400-51891000	Weak transcription	Adipose Nuclei	Adipose
7	chr10:51869000-51891400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:51872000-51891400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:51878000-51891600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:51883200-51895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:51889000-51891400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:51889800-51890600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:51890200-51893000	Weak transcription	Osteobl	bone
14	chr10:51890600-51892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:51892800-51895600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:51912600-51913000	Active TSS	Brain Germinal Matrix	brain

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