Variant report

Variant	nsv947887
Chromosome Location	chr10:43183626-43224571
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	chr10:43218973-43219261	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:43195023-43195204	K562	blood:	n/a	n/a
3	CEBPB	chr10:43204367-43204575	HepG2	liver:	n/a	chr10:43204513-43204524 chr10:43204512-43204525
4	CTCF	chr10:43186120-43186270	Caco-2	colon:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
5	CTCF	chr10:43185983-43186284	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
6	CTCF	chr10:43186100-43186250	Hela-S3	cervix:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
7	CTCF	chr10:43186015-43186310	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
8	CTCF	chr10:43186060-43186210	GM12872	blood:	n/a	chr10:43186191-43186209
9	CTCF	chr10:43186098-43186259	LNCaP	prostate:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
10	CTCF	chr10:43186088-43186297	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
11	CTCF	chr10:43185800-43185950	HepG2	liver:	n/a	n/a
12	CTCF	chr10:43194130-43194228	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr10:43185840-43185990	HepG2	liver:	n/a	n/a
14	CTCF	chr10:43186120-43186270	HepG2	liver:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
15	CTCF	chr10:43186108-43186272	H1-hESC	embryonic stem cell:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
16	CTCF	chr10:43186066-43186279	Gliobla	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
17	CTCF	chr10:43202861-43202903	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr10:43202806-43202936	LNCaP	prostate:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
19	CTCF	chr10:43186049-43186326	GM12878	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
20	CTCF	chr10:43186100-43186250	WERI-Rb-1	eye:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
21	CTCF	chr10:43186141-43186241	NHEK	skin:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
22	CTCF	chr10:43202780-43202930	Caco-2	colon:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
23	CTCF	chr10:43186160-43186310	GM12873	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
24	CTCF	chr10:43186100-43186250	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
25	CTCF	chr10:43186111-43186288	LNCaP	prostate:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
26	CTCF	chr10:43202807-43202937	LNCaP	prostate:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
27	CTCF	chr10:43202700-43202850	Caco-2	colon:	n/a	n/a
28	CTCF	chr10:43186160-43186310	A549	lung:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
29	CTCF	chr10:43185925-43185970	MCF-7	breast:	n/a	n/a
30	CTCF	chr10:43207580-43207595	GM13976	blood:	n/a	n/a
31	CTCF	chr10:43201282-43201346	GM10266	blood:	n/a	n/a
32	CTCF	chr10:43185990-43185994	MCF-7	breast:	n/a	n/a
33	CTCF	chr10:43214038-43214096	GM13976	blood:	n/a	n/a
34	CTCF	chr10:43202805-43202913	Kidney_OC	kidney:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
35	CTCF	chr10:43186180-43186330	HEK293	kidney:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
36	CTCF	chr10:43186896-43186993	MCF-7	breast:	n/a	n/a
37	CTCF	chr10:43186400-43186550	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr10:43189850-43189903	Lung_OC	lung:	n/a	n/a
39	CTCF	chr10:43202793-43202927	Pancreas_OC	pancreas:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
40	CTCF	chr10:43186103-43186279	T-47D	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
41	CTCF	chr10:43186120-43186270	BE2_C	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
42	CTCF	chr10:43186161-43186225	GM12891	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
43	CTCF	chr10:43186100-43186250	HEK293	kidney:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
44	CTCF	chr10:43185547-43187555	SK-N-SH	brain:	n/a	chr10:43186347-43186360 chr10:43186191-43186209 chr10:43186193-43186214
45	CTCF	chr10:43186160-43186310	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
46	CTCF	chr10:43186080-43186230	GM06990	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
47	CTCF	chr10:43186100-43186250	NHEK	skin:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
48	CTCF	chr10:43186147-43186242	GM12892	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
49	CTCF	chr10:43186036-43186337	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
50	CTCF	chr10:43197483-43197550	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43186868-43186918	AG09319	gingival:	n/a
2	chr10:43187469-43187519	Caco-2	colon:	n/a
3	chr10:43187175-43187225	NHBE	bronchial:	n/a
4	chr10:43216927-43216977	AoSMC	blood vessel:	n/a
5	chr10:43186810-43186860	HRE	kidney:	n/a
6	chr10:43187321-43187371	SKMC	muscle:	n/a
7	chr10:43186868-43186918	ECC-1	luminal epithelium:	n/a
8	chr10:43187321-43187371	HRPEpiC	eye:	n/a
9	chr10:43209934-43209984	PrEC	prostate:	n/a
10	chr10:43187175-43187225	GM12892	blood:	n/a
11	chr10:43216927-43216977	MCF-7	breast:	n/a
12	chr10:43187321-43187371	SK-N-SH	brain:	n/a
13	chr10:43209934-43209984	SAEC	small airway:	n/a
14	chr10:43187321-43187371	HCPEpiC	choroid plexus:	n/a
15	chr10:43186868-43186918	HAEpiC	amniotic membrane:	n/a
16	chr10:43187469-43187519	HL-60	blood:	n/a
17	chr10:43187321-43187371	NH-A	brain:	n/a
18	chr10:43187175-43187225	RPTEC	kidney:	n/a
19	chr10:43187184-43187234	NT2-D1	testis:	n/a
20	chr10:43187321-43187371	Hela-S3	cervix:	n/a
21	chr10:43187175-43187225	NHDF-neo	bronchial:	n/a
22	chr10:43215944-43215994	GM12892	blood:	n/a
23	chr10:43215944-43215994	IMR90	lung:	fetal
24	chr10:43187175-43187225	ProgFib	skin:	n/a
25	chr10:43186900-43186950	HPAEpiC	pulmonary alveolar:	n/a
26	chr10:43209934-43209984	H1-hESC	embryonic stem cell:	embryo
27	chr10:43187175-43187225	HCT-116	colon:	n/a
28	chr10:43187469-43187519	Jurkat	blood:	n/a
29	chr10:43186900-43186950	CMK	blood:	n/a
30	chr10:43187175-43187225	Caco-2	colon:	n/a
31	chr10:43186810-43186860	IMR90	lung:	fetal
32	chr10:43187175-43187225	HRPEpiC	eye:	n/a
33	chr10:43186810-43186860	SKMC	muscle:	n/a
34	chr10:43187175-43187225	SAEC	small airway:	n/a
35	chr10:43209934-43209984	HL-60	blood:	n/a
36	chr10:43186868-43186918	HCT-116	colon:	n/a
37	chr10:43187175-43187225	AG04449	skin:	fetal
38	chr10:43186810-43186860	HRPEpiC	eye:	n/a
39	chr10:43186810-43186860	SK-N-MC	brain:	n/a
40	chr10:43215944-43215994	NHBE	bronchial:	n/a
41	chr10:43187469-43187519	HNPCEpiC	eye:	n/a
42	chr10:43216927-43216977	HRE	kidney:	n/a
43	chr10:43186868-43186918	RPTEC	kidney:	n/a
44	chr10:43216927-43216977	IMR90	lung:	fetal
45	chr10:43209934-43209984	HCPEpiC	choroid plexus:	n/a
46	chr10:43186810-43186860	PFSK-1	brain:	n/a
47	chr10:43215944-43215994	SK-N-SH	brain:	n/a
48	chr10:43187175-43187225	GM19239	blood:	n/a
49	chr10:43186868-43186918	HIPEpiC	eye:	n/a
50	chr10:43216927-43216977	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43132391..43135100-chr10:43189606..43191108,2	MCF-7	breast:
2	chr10:43179370..43182447-chr10:43184174..43186310,3	MCF-7	breast:
3	chr10:43132526..43135261-chr10:43184647..43186574,3	MCF-7	breast:
4	chr10:43203133..43206798-chr10:43276930..43278950,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33B-1	chr10:43186987-43187198	NONHSAT012922
2	lnc-BMS1-2	chr10:43191483-43191659	ENSG00000234864
3	lnc-ZNF33B-1	chr10:43186181-43186249	NONHSAT139966
4	lnc-ZNF33B-1	chr10:43186983-43187198	NONHSAT012921
5	lnc-BMS1-2	chr10:43198870-43201901	ENSG00000234864
6	lnc-BMS1-2	chr10:43196950-43197705	ENSG00000234864
7	lnc-ZNF33B-1	chr10:43187438-43187527	NONHSAT012924
8	lnc-ZNF33B-1	chr10:43186983-43187171	ENSG00000233515

Variant related genes	Relation type
RSU1P1	TF binding region
ENSG00000233515	TF binding region
CUBNP1	TF binding region
ENSG00000234864	TF binding region
RSU1P1	CpG island
ENSG00000233515	CpG island
CUBNP1	CpG island
ENSG00000234864	CpG island
ENSG00000272373	chromatin interactions
ENSG00000165733	chromatin interactions
ENSG00000196693	chromatin interactions

Extended variants
information (count: 1310 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1310 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115790125	chr10:43183652-43183653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529242615	chr10:43183653-43183654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551730253	chr10:43183656-43183657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148015177	chr10:43183719-43183720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531260066	chr10:43183732-43183733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141694026	chr10:43183742-43183743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181173987	chr10:43183768-43183769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528900063	chr10:43183773-43183774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371101630	chr10:43183891-43183892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547464911	chr10:43183893-43183894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565677845	chr10:43183894-43183895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539602566	chr10:43183906-43183907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185592771	chr10:43183909-43183910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569533147	chr10:43183916-43183917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536909432	chr10:43183968-43183969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555253711	chr10:43183971-43183972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573655053	chr10:43183977-43183978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71505639	chr10:43183986-43183987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183493434	chr10:43184005-43184006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386743138	chr10:43184030-43184031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114796990	chr10:43184031-43184032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150526925	chr10:43184042-43184043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568273147	chr10:43184056-43184057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535381023	chr10:43184067-43184068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374579222	chr10:43184109-43184110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561614218	chr10:43184146-43184147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528885422	chr10:43184163-43184164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112409437	chr10:43184171-43184172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35689174	chr10:43184172-43184173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186762969	chr10:43184184-43184185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58116228	chr10:43184186-43184187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565743959	chr10:43184198-43184199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569213852	chr10:43184201-43184202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532858392	chr10:43184217-43184218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192283733	chr10:43184263-43184264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538086741	chr10:43184311-43184312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569469129	chr10:43184313-43184314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184069676	chr10:43184314-43184315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555243194	chr10:43184365-43184366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186608548	chr10:43184366-43184367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35523473	chr10:43184379-43184380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28540499	chr10:43184401-43184402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2473113	chr10:43184429-43184430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs553121729	chr10:43184435-43184436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138593255	chr10:43184437-43184438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386743139	chr10:43184514-43184515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs485894	chr10:43184515-43184516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575905222	chr10:43184531-43184532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142779944	chr10:43184536-43184537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561548200	chr10:43184578-43184579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43182800-43184200	Enhancers	Stomach Mucosa	stomach
2	chr10:43183200-43183800	Weak transcription	K562	blood
3	chr10:43183800-43184000	Enhancers	K562	blood
4	chr10:43183800-43184200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:43184000-43185200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:43184400-43185000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr10:43184400-43185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:43184600-43185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:43184600-43185600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:43184600-43185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:43185600-43186200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:43185600-43186600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:43185800-43186200	Enhancers	Pancreas	Pancrea
14	chr10:43186200-43190400	Weak transcription	Pancreas	Pancrea
15	chr10:43186600-43187000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:43187000-43187200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:43187200-43187400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:43187400-43188800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:43190000-43191600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:43190200-43191400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:43190600-43191200	Enhancers	HepG2	liver
22	chr10:43190800-43191200	Enhancers	Liver	Liver
23	chr10:43190800-43191600	Enhancers	K562	blood
24	chr10:43191400-43193400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:43191600-43193000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:43193000-43193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:43193400-43193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:43193600-43194000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:43194000-43194400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:43194200-43194600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:43202600-43202800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr10:43202800-43203600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr10:43212600-43213000	Enhancers	Spleen	Spleen
34	chr10:43212800-43213000	Enhancers	HepG2	liver
35	chr10:43213000-43215800	Weak transcription	Spleen	Spleen
36	chr10:43215800-43216200	ZNF genes & repeats	Spleen	Spleen
37	chr10:43217600-43218000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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