Variant report

Variant	nsv947995
Chromosome Location	chr10:51600098-51672745
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	BATF	chr10:51616858-51617300	GM12878	blood:	n/a	n/a
2	BATF	chr10:51616894-51617249	GM12878	blood:	n/a	n/a
3	BATF	chr10:51623030-51623733	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:51623392-51623571	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:51616880-51617272	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:51617008-51617165	GM12878	blood:	n/a	n/a
7	BCL11A	chr10:51623014-51623382	GM12878	blood:	n/a	n/a
8	BHLHE40	chr10:51623739-51623941	HepG2	liver:	n/a	n/a
9	BHLHE40	chr10:51623755-51623974	HepG2	liver:	n/a	n/a
10	BHLHE40	chr10:51623758-51623967	K562	blood:	n/a	n/a
11	CBX3	chr10:51622862-51624053	K562	blood:	n/a	n/a
12	CBX3	chr10:51668623-51668969	K562	blood:	n/a	n/a
13	CBX3	chr10:51668629-51668960	K562	blood:	n/a	n/a
14	CEBPD	chr10:51622820-51623608	K562	blood:	n/a	n/a
15	CTCF	chr10:51612023-51612260	HUVEC	blood vessel:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
16	CTCF	chr10:51611999-51612271	Medullo	brain:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
17	CTCF	chr10:51669888-51669946	Medullo	brain:	n/a	n/a
18	CTCF	chr10:51623516-51623553	GM10266	blood:	n/a	n/a
19	CTCF	chr10:51623700-51623850	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr10:51612107-51612187	GM13976	blood:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
21	CTCF	chr10:51611956-51612105	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:51648079-51648390	A549	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
23	CTCF	chr10:51611964-51612122	GM12892	blood:	n/a	n/a
24	CTCF	chr10:51659691-51659764	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr10:51623777-51623975	GM12891	blood:	n/a	n/a
26	CTCF	chr10:51623397-51623412	GM12892	blood:	n/a	n/a
27	CTCF	chr10:51612013-51612213	HepG2	liver:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
28	CTCF	chr10:51648204-51648324	Lung_OC	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
29	CTCF	chr10:51623806-51623953	GM12892	blood:	n/a	n/a
30	CTCF	chr10:51623761-51623991	MCF-7	breast:	n/a	n/a
31	CTCF	chr10:51648120-51648341	A549	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
32	CTCF	chr10:51611977-51612220	ProgFib	skin:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
33	CTCF	chr10:51623777-51623987	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:51648238-51648369	Kidney_OC	kidney:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
35	CTCF	chr10:51667899-51667934	LNCaP	prostate:	n/a	n/a
36	CTCF	chr10:51623824-51623932	Gliobla	brain:	n/a	n/a
37	CTCF	chr10:51623742-51623998	MCF-7	breast:	n/a	n/a
38	CTCF	chr10:51668188-51668271	GM20000	blood:	n/a	n/a
39	CTCF	chr10:51623785-51623968	GM19238	blood:	n/a	n/a
40	CTCF	chr10:51612033-51612230	Hela-S3	cervix:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
41	CTCF	chr10:51623816-51623939	GM19239	blood:	n/a	n/a
42	CTCF	chr10:51648187-51648358	LNCaP	prostate:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
43	CTCF	chr10:51623248-51623507	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr10:51611907-51612247	A549	lung:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
45	CTCF	chr10:51638889-51638979	GM10266	blood:	n/a	n/a
46	CTCF	chr10:51666380-51666459	LNCaP	prostate:	n/a	n/a
47	CTCF	chr10:51623827-51623933	GM19240	blood:	n/a	n/a
48	CTCF	chr10:51612074-51612244	GM10248	blood:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148
49	CTCF	chr10:51658090-51658180	Lung_OC	lung:	n/a	n/a
50	CTCF	chr10:51612031-51612280	Spleen_OC	spleen:	n/a	chr10:51612133-51612151 chr10:51612134-51612150 chr10:51612128-51612149 chr10:51612135-51612148

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:51627505-51627555	NHDF-neo	bronchial:	n/a
2	chr10:51632982-51633032	U87	brain:	n/a
3	chr10:51623735-51623785	GM19239	blood:	n/a
4	chr10:51623735-51623785	AG10803	skin:	n/a
5	chr10:51632982-51633032	HEK293	kidney:	embryo
6	chr10:51623735-51623785	HAEpiC	amniotic membrane:	n/a
7	chr10:51623735-51623785	MCF10A-Er-Src	breast:	n/a
8	chr10:51623735-51623785	SAEC	small airway:	n/a
9	chr10:51623047-51623097	K562	blood:	n/a
10	chr10:51623735-51623785	Jurkat	blood:	n/a
11	chr10:51623735-51623785	HEEpiC	esophagus:	n/a
12	chr10:51623735-51623785	GM12892	blood:	n/a
13	chr10:51627505-51627555	BJ	skin:	n/a
14	chr10:51623047-51623097	HRCEpiC	kidney:	n/a
15	chr10:51623769-51623819	HRE	kidney:	n/a
16	chr10:51632982-51633032	ECC-1	luminal epithelium:	n/a
17	chr10:51623047-51623097	A549	lung:	n/a
18	chr10:51632982-51633032	HL-60	blood:	n/a
19	chr10:51623047-51623097	GM06990	blood:	n/a
20	chr10:51632982-51633032	A549	lung:	n/a
21	chr10:51623735-51623785	AG09319	gingival:	n/a
22	chr10:51623735-51623785	HMEC	breast:	n/a
23	chr10:51627505-51627555	HIPEpiC	eye:	n/a
24	chr10:51623769-51623819	SK-N-SH_RA	brain:	n/a
25	chr10:51632982-51633032	HMEC	breast:	n/a
26	chr10:51623735-51623785	NB4	blood:	n/a
27	chr10:51623769-51623819	PANC-1	pancreas:	n/a
28	chr10:51623769-51623819	HCT-116	colon:	n/a
29	chr10:51623769-51623819	AoSMC	blood vessel:	n/a
30	chr10:51623047-51623097	H1-hESC	embryonic stem cell:	embryo
31	chr10:51623735-51623785	Caco-2	colon:	n/a
32	chr10:51623769-51623819	HAEpiC	amniotic membrane:	n/a
33	chr10:51632982-51633032	NHBE	bronchial:	n/a
34	chr10:51623735-51623785	HL-60	blood:	n/a
35	chr10:51623769-51623819	T-47D	breast:	n/a
36	chr10:51623047-51623097	HCF	heart:	n/a
37	chr10:51632982-51633032	BE2_C	brain:	n/a
38	chr10:51632982-51633032	HPAEpiC	pulmonary alveolar:	n/a
39	chr10:51623735-51623785	HEK293	kidney:	embryo
40	chr10:51632982-51633032	GM06990	blood:	n/a
41	chr10:51632982-51633032	RPTEC	kidney:	n/a
42	chr10:51623769-51623819	GM06990	blood:	n/a
43	chr10:51623047-51623097	ProgFib	skin:	n/a
44	chr10:51627505-51627555	AoSMC	blood vessel:	n/a
45	chr10:51623047-51623097	IMR90	lung:	fetal
46	chr10:51623769-51623819	HEK293	kidney:	embryo
47	chr10:51623047-51623097	HL-60	blood:	n/a
48	chr10:51623769-51623819	NB4	blood:	n/a
49	chr10:51632982-51633032	SKMC	muscle:	n/a
50	chr10:51627505-51627555	ProgFib	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGAP7-2	chr10:51611024-51611224	NONHSAT013364
2	lnc-TIMM23-1	chr10:51654977-51655307	NONHSAT013366

Variant related genes	Relation type
PARGP1	TF binding region
TIMM23	TF binding region
ENSG00000223111	TF binding region
ENSG00000229464	TF binding region
PARGP1	CpG island
TIMM23	CpG island
ENSG00000223111	CpG island
ENSG00000229464	CpG island

Extended variants
information (count: 506 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370540792	chr10:51600457-51600458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587679962	chr10:51600486-51600487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587716207	chr10:51600499-51600500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587611305	chr10:51600560-51600561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587669147	chr10:51600775-51600776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587728797	chr10:51602168-51602169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369873487	chr10:51602290-51602291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587627777	chr10:51602424-51602425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587651620	chr10:51602436-51602437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587739184	chr10:51602444-51602445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587611656	chr10:51602506-51602507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2813146	chr10:51602523-51602524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587717639	chr10:51602540-51602541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10996174	chr10:51602600-51602601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373320530	chr10:51602606-51602607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587647938	chr10:51602618-51602619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10996177	chr10:51602633-51602634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587709167	chr10:51602764-51602765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111500002	chr10:51602855-51602856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2813148	chr10:51602863-51602864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370225498	chr10:51602999-51603000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587775478	chr10:51603143-51603144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587642090	chr10:51603146-51603147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587693368	chr10:51603174-51603175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587759062	chr10:51603186-51603187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587651402	chr10:51603192-51603193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587714099	chr10:51603213-51603214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183097622	chr10:51603225-51603226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587612474	chr10:51603253-51603254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587649032	chr10:51603289-51603290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2813150	chr10:51603571-51603572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2813151	chr10:51603592-51603593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2813152	chr10:51603606-51603607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3098109	chr10:51603767-51603768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200496312	chr10:51603812-51603813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12766148	chr10:51603844-51603845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587680485	chr10:51603851-51603852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148554573	chr10:51603866-51603867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144563663	chr10:51603883-51603884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113164104	chr10:51603944-51603945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138048287	chr10:51603974-51603975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587692705	chr10:51604003-51604004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587747667	chr10:51604045-51604046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376606421	chr10:51604215-51604216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113485560	chr10:51604573-51604574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587658839	chr10:51604643-51604644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587736515	chr10:51604661-51604662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200680210	chr10:51604705-51604706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587596350	chr10:51604718-51604719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201531292	chr10:51604992-51604993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51589000-51623000	Weak transcription	Small Intestine	intestine
2	chr10:51594200-51604800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:51594400-51622400	Weak transcription	Fetal Intestine Small	intestine
4	chr10:51594400-51622800	Weak transcription	Gastric	stomach
5	chr10:51594600-51614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:51595200-51605000	Weak transcription	Right Ventricle	heart
7	chr10:51595200-51622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:51595400-51622400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr10:51595400-51622600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:51595600-51622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:51595800-51600800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr10:51595800-51601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:51595800-51609200	Weak transcription	Pancreas	Pancrea
14	chr10:51595800-51613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr10:51595800-51622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:51595800-51622400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:51595800-51622400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:51595800-51622400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:51595800-51622400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:51595800-51622400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr10:51595800-51622400	Weak transcription	Fetal Intestine Large	intestine
22	chr10:51595800-51622400	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:51595800-51622400	Weak transcription	Dnd41	blood
24	chr10:51595800-51622400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:51596000-51622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:51596000-51622400	Weak transcription	Fetal Stomach	stomach
27	chr10:51614200-51622400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:51614200-51622800	Weak transcription	Pancreas	Pancrea
29	chr10:51614600-51614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:51614800-51622400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:51615800-51622400	Weak transcription	Liver	Liver
32	chr10:51616000-51621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:51616400-51616800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr10:51616400-51622400	Weak transcription	Fetal Thymus	thymus
35	chr10:51616400-51622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:51616600-51622400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr10:51616800-51621200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:51617400-51622400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:51618000-51622400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:51618200-51621200	Weak transcription	K562	blood
41	chr10:51619400-51622400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:51619800-51622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:51620800-51621200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr10:51621200-51621400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:51621200-51621400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr10:51621200-51621800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr10:51621200-51624000	Active TSS	K562	blood
48	chr10:51621400-51622400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:51621400-51622400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr10:51621800-51622400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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