Variant report

Variant	esv3333619
Chromosome Location	chr10:43185396-43188094
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	CTCF	chr10:43186100-43186250	GM12865	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
2	CTCF	chr10:43186070-43186305	HepG2	liver:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
3	CTCF	chr10:43186100-43186250	WERI-Rb-1	eye:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
4	CTCF	chr10:43186098-43186259	LNCaP	prostate:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
5	CTCF	chr10:43186160-43186310	A549	lung:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
6	CTCF	chr10:43186168-43186222	Spleen_OC	spleen:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
7	CTCF	chr10:43186100-43186250	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
8	CTCF	chr10:43185840-43185990	HepG2	liver:	n/a	n/a
9	CTCF	chr10:43186080-43186230	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
10	CTCF	chr10:43186108-43186272	H1-hESC	embryonic stem cell:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
11	CTCF	chr10:43186120-43186270	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
12	CTCF	chr10:43186054-43186283	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
13	CTCF	chr10:43186100-43186250	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
14	CTCF	chr10:43186120-43186270	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
15	CTCF	chr10:43186140-43186290	WERI-Rb-1	eye:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
16	CTCF	chr10:43186066-43186295	A549	lung:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
17	CTCF	chr10:43186120-43186270	HepG2	liver:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
18	CTCF	chr10:43186896-43186993	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:43186120-43186270	Caco-2	colon:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
20	CTCF	chr10:43186120-43186270	BE2_C	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
21	CTCF	chr10:43186139-43186254	GM12878	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
22	CTCF	chr10:43186100-43186250	Caco-2	colon:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
23	CTCF	chr10:43186784-43187085	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr10:43186036-43186337	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
25	CTCF	chr10:43186100-43186250	HEK293	kidney:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
26	CTCF	chr10:43186080-43186230	GM06990	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
27	CTCF	chr10:43185925-43185970	MCF-7	breast:	n/a	n/a
28	CTCF	chr10:43186060-43186210	GM12872	blood:	n/a	chr10:43186191-43186209
29	CTCF	chr10:43186180-43186330	HEK293	kidney:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
30	CTCF	chr10:43186220-43186370	GM06990	blood:	n/a	chr10:43186347-43186360
31	CTCF	chr10:43186400-43186550	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr10:43186120-43186270	NB4	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
33	CTCF	chr10:43186160-43186310	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
34	CTCF	chr10:43186111-43186288	LNCaP	prostate:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
35	CTCF	chr10:43186038-43186294	HepG2	liver:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
36	CTCF	chr10:43186160-43186310	GM12873	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
37	CTCF	chr10:43186107-43186267	Hela-S3	cervix:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
38	CTCF	chr10:43186074-43186283	K562	blood:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
39	CTCF	chr10:43186088-43186297	SK-N-SH_RA	brain:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
40	CTCF	chr10:43186120-43186270	HCT-116	colon:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
41	CTCF	chr10:43185800-43185950	HepG2	liver:	n/a	n/a
42	CTCF	chr10:43185990-43185994	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:43186060-43186210	HepG2	liver:	n/a	chr10:43186191-43186209
44	CTCF	chr10:43185820-43185970	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr10:43186015-43186310	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
46	CTCF	chr10:43185975-43186315	MCF-7	breast:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
47	CTCF	chr10:43186149-43186249	Kidney_OC	kidney:	n/a	chr10:43186191-43186209 chr10:43186193-43186214
48	CTCF	chr10:43185859-43186469	MCF-7	breast:	n/a	chr10:43186347-43186360 chr10:43186191-43186209 chr10:43186193-43186214
49	CTCF	chr10:43185547-43187555	SK-N-SH	brain:	n/a	chr10:43186347-43186360 chr10:43186191-43186209 chr10:43186193-43186214
50	CTCF	chr10:43186831-43187008	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43187175-43187225	NT2-D1	testis:	n/a
2	chr10:43186900-43186950	HEEpiC	esophagus:	n/a
3	chr10:43186810-43186860	MCF-7	breast:	n/a
4	chr10:43187321-43187371	AG04450	lung:	fetal
5	chr10:43187184-43187234	NH-A	brain:	n/a
6	chr10:43187469-43187519	GM12892	blood:	n/a
7	chr10:43186868-43186918	Jurkat	blood:	n/a
8	chr10:43186868-43186918	HEK293	kidney:	embryo
9	chr10:43186900-43186950	HRE	kidney:	n/a
10	chr10:43186868-43186918	HIPEpiC	eye:	n/a
11	chr10:43186868-43186918	NHBE	bronchial:	n/a
12	chr10:43187321-43187371	PFSK-1	brain:	n/a
13	chr10:43187469-43187519	MCF-7	breast:	n/a
14	chr10:43186868-43186918	GM12892	blood:	n/a
15	chr10:43187469-43187519	SK-N-MC	brain:	n/a
16	chr10:43187469-43187519	HRE	kidney:	n/a
17	chr10:43187175-43187225	IMR90	lung:	fetal
18	chr10:43186868-43186918	NB4	blood:	n/a
19	chr10:43187184-43187234	NHDF-neo	bronchial:	n/a
20	chr10:43186810-43186860	BE2_C	brain:	n/a
21	chr10:43187175-43187225	GM06990	blood:	n/a
22	chr10:43187469-43187519	SK-N-SH	brain:	n/a
23	chr10:43186868-43186918	AG09309	skin:	n/a
24	chr10:43187184-43187234	Hepatocyte	liver:	n/a
25	chr10:43186810-43186860	PFSK-1	brain:	n/a
26	chr10:43187184-43187234	NB4	blood:	n/a
27	chr10:43186900-43186950	HIPEpiC	eye:	n/a
28	chr10:43187184-43187234	MCF-7	breast:	n/a
29	chr10:43187321-43187371	H1-hESC	embryonic stem cell:	embryo
30	chr10:43186810-43186860	Jurkat	blood:	n/a
31	chr10:43186868-43186918	AG04449	skin:	fetal
32	chr10:43186868-43186918	HRCEpiC	kidney:	n/a
33	chr10:43186900-43186950	NT2-D1	testis:	n/a
34	chr10:43187321-43187371	PrEC	prostate:	n/a
35	chr10:43187184-43187234	RPTEC	kidney:	n/a
36	chr10:43186868-43186918	SKMC	muscle:	n/a
37	chr10:43186868-43186918	ECC-1	luminal epithelium:	n/a
38	chr10:43186810-43186860	ProgFib	skin:	n/a
39	chr10:43187469-43187519	NT2-D1	testis:	n/a
40	chr10:43186900-43186950	HPAEpiC	pulmonary alveolar:	n/a
41	chr10:43187321-43187371	HepG2	liver:	n/a
42	chr10:43186810-43186860	SKMC	muscle:	n/a
43	chr10:43187175-43187225	HNPCEpiC	eye:	n/a
44	chr10:43186868-43186918	IMR90	lung:	fetal
45	chr10:43187175-43187225	ECC-1	luminal epithelium:	n/a
46	chr10:43186900-43186950	GM12891	blood:	n/a
47	chr10:43186868-43186918	CMK	blood:	n/a
48	chr10:43186868-43186918	HCPEpiC	choroid plexus:	n/a
49	chr10:43187175-43187225	SK-N-SH_RA	brain:	n/a
50	chr10:43187175-43187225	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43132526..43135261-chr10:43184647..43186574,3	MCF-7	breast:
2	chr10:43179370..43182447-chr10:43184174..43186310,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33B-1	chr10:43186983-43187198	NONHSAT012921
2	lnc-ZNF33B-1	chr10:43186987-43187198	NONHSAT012922
3	lnc-ZNF33B-1	chr10:43186181-43186249	NONHSAT139966
4	lnc-ZNF33B-1	chr10:43186983-43187171	ENSG00000233515
5	lnc-ZNF33B-1	chr10:43187438-43187527	NONHSAT012924

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

Extended variants
information (count: 154 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs200165241	chr10:43185432-43185433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs544585831	chr10:43185441-43185442	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556511642	chr10:43185446-43185447	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs151171896	chr10:43185447-43185448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs73251037	chr10:43185452-43185453	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116202255	chr10:43185490-43185491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189540235	chr10:43185502-43185503	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544095036	chr10:43185515-43185516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527446742	chr10:43185520-43185521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540453206	chr10:43185527-43185528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115636208	chr10:43185564-43185565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563368746	chr10:43185572-43185573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397807032	chr10:43185574-43185575	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561486656	chr10:43185575-43185576	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141418161	chr10:43185583-43185584	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559675018	chr10:43185594-43185595	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532406497	chr10:43185610-43185611	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550907000	chr10:43185611-43185612	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569231941	chr10:43185667-43185668	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530118498	chr10:43185688-43185689	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199570302	chr10:43185704-43185705	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541338939	chr10:43185725-43185726	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377539513	chr10:43185730-43185731	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs180734391	chr10:43185743-43185744	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs151051414	chr10:43185748-43185749	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372954940	chr10:43185816-43185817	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534117578	chr10:43185820-43185821	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185347994	chr10:43185857-43185858	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2505883	chr10:43185875-43185876	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373227289	chr10:43185876-43185877	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538115641	chr10:43185877-43185878	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368874918	chr10:43185960-43185961	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556448465	chr10:43185973-43185974	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372879908	chr10:43186024-43186025	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574847989	chr10:43186040-43186041	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542262971	chr10:43186044-43186045	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs554351179	chr10:43186045-43186046	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572921627	chr10:43186073-43186074	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188488709	chr10:43186081-43186082	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs17343443	chr10:43186135-43186136	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375704184	chr10:43186153-43186154	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532353176	chr10:43186157-43186158	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs78910333	chr10:43186175-43186176	Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562815473	chr10:43186184-43186185	Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs521852	chr10:43186185-43186186	Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs882993	chr10:43186186-43186187	Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566833327	chr10:43186207-43186208	Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs527761015	chr10:43186220-43186221	Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs552406411	chr10:43186235-43186236	Genic enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs570985051	chr10:43186265-43186266	Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43184400-43185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:43184600-43185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:43184600-43185600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:43184600-43185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:43185600-43186200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:43185600-43186600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:43185800-43186200	Enhancers	Pancreas	Pancrea
8	chr10:43186200-43190400	Weak transcription	Pancreas	Pancrea
9	chr10:43186600-43187000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:43187000-43187200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:43187200-43187400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:43187400-43188800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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