Variant report

Variant	esv1822253
Chromosome Location	chr3:195746112-195766737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:516)
CpG islands
(count:183)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:195749394-195749773	K562	blood:	n/a	n/a
2	ATF1	chr3:195749420-195749705	K562	blood:	n/a	n/a
3	ATF3	chr3:195749354-195749761	K562	blood:	n/a	n/a
4	ATF3	chr3:195749471-195749622	K562	blood:	n/a	n/a
5	BATF	chr3:195749041-195749182	GM12878	blood:	n/a	n/a
6	BCL3	chr3:195751851-195752247	GM12878	blood:	n/a	n/a
7	BCL3	chr3:195751833-195752171	GM12878	blood:	n/a	n/a
8	BHLHE40	chr3:195749220-195749716	K562	blood:	n/a	n/a
9	BRCA1	chr3:195749081-195749162	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr3:195748902-195749713	K562	blood:	n/a	n/a
11	CCNT2	chr3:195751913-195752139	K562	blood:	n/a	n/a
12	CEBPB	chr3:195753081-195753221	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr3:195749020-195749170	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr3:195753030-195753203	LNCaP	prostate:	n/a	n/a
15	CTCF	chr3:195748980-195749130	HepG2	liver:	n/a	n/a
16	CTCF	chr3:195752980-195753130	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr3:195752896-195753297	GM12878	blood:	n/a	chr3:195753251-195753258
18	CTCF	chr3:195748977-195749232	Fibrobl	skin:	n/a	n/a
19	CTCF	chr3:195749060-195749210	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr3:195748896-195749285	K562	blood:	n/a	n/a
21	CTCF	chr3:195753000-195753150	HCT-116	colon:	n/a	n/a
22	CTCF	chr3:195752980-195753130	GM12866	blood:	n/a	n/a
23	CTCF	chr3:195748955-195749313	K562	blood:	n/a	n/a
24	CTCF	chr3:195752960-195753110	AG04450	lung:	n/a	n/a
25	CTCF	chr3:195752994-195753224	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr3:195749040-195749190	MCF-7	breast:	n/a	n/a
27	CTCF	chr3:195749000-195749150	GM12864	blood:	n/a	n/a
28	CTCF	chr3:195749060-195749210	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:195752864-195753213	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr3:195753060-195753210	HEK293	kidney:	n/a	n/a
31	CTCF	chr3:195752980-195753130	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr3:195752960-195753110	GM12875	blood:	n/a	n/a
33	CTCF	chr3:195753060-195753210	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr3:195752821-195753499	HCT-116	colon:	n/a	chr3:195753251-195753258
35	CTCF	chr3:195752969-195753267	A549	lung:	n/a	chr3:195753251-195753258
36	CTCF	chr3:195752926-195753234	HepG2	liver:	n/a	n/a
37	CTCF	chr3:195752980-195753130	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr3:195749060-195749210	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr3:195752980-195753130	GM12878	blood:	n/a	n/a
40	CTCF	chr3:195749080-195749230	GM06990	blood:	n/a	n/a
41	CTCF	chr3:195753000-195753150	HMEC	breast:	n/a	n/a
42	CTCF	chr3:195752980-195753130	WI-38	lung:	n/a	n/a
43	CTCF	chr3:195748995-195749186	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr3:195753000-195753150	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr3:195753000-195753150	BE2_C	brain:	n/a	n/a
46	CTCF	chr3:195749020-195749170	HCT-116	colon:	n/a	n/a
47	CTCF	chr3:195752980-195753130	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr3:195749020-195749170	HepG2	liver:	n/a	n/a
49	CTCF	chr3:195752987-195753248	K562	blood:	n/a	n/a
50	CTCF	chr3:195752984-195753234	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195749184-195749234	Hepatocyte	liver:	n/a
2	chr3:195750746-195750796	NHDF-neo	bronchial:	n/a
3	chr3:195750746-195750796	HCM	heart:	n/a
4	chr3:195750746-195750796	MCF-7	breast:	n/a
5	chr3:195749184-195749234	HRCEpiC	kidney:	n/a
6	chr3:195749184-195749234	MCF-7	breast:	n/a
7	chr3:195750746-195750796	K562	blood:	n/a
8	chr3:195749184-195749234	HEEpiC	esophagus:	n/a
9	chr3:195750746-195750796	PANC-1	pancreas:	n/a
10	chr3:195750802-195750852	SK-N-SH_RA	brain:	n/a
11	chr3:195749184-195749234	SAEC	small airway:	n/a
12	chr3:195750746-195750796	SK-N-MC	brain:	n/a
13	chr3:195749184-195749234	MCF10A-Er-Src	breast:	n/a
14	chr3:195749184-195749234	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:195749184-195749234	RPTEC	kidney:	n/a
16	chr3:195750802-195750852	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:195750802-195750852	HEK293	kidney:	embryo
18	chr3:195750802-195750852	AG04449	skin:	fetal
19	chr3:195750746-195750796	Jurkat	blood:	n/a
20	chr3:195750746-195750796	HIPEpiC	eye:	n/a
21	chr3:195750802-195750852	HRCEpiC	kidney:	n/a
22	chr3:195750746-195750796	HL-60	blood:	n/a
23	chr3:195750802-195750852	PANC-1	pancreas:	n/a
24	chr3:195750802-195750852	HL-60	blood:	n/a
25	chr3:195750802-195750852	U87	brain:	n/a
26	chr3:195750802-195750852	Jurkat	blood:	n/a
27	chr3:195749184-195749234	HCT-116	colon:	n/a
28	chr3:195749184-195749234	AoSMC	blood vessel:	n/a
29	chr3:195749184-195749234	HAEpiC	amniotic membrane:	n/a
30	chr3:195749184-195749234	HMEC	breast:	n/a
31	chr3:195750802-195750852	ProgFib	skin:	n/a
32	chr3:195749184-195749234	BE2_C	brain:	n/a
33	chr3:195749184-195749234	HUVEC	blood vessel:	n/a
34	chr3:195750746-195750796	HEK293	kidney:	embryo
35	chr3:195749184-195749234	ProgFib	skin:	n/a
36	chr3:195750802-195750852	LNCaP	prostate:	n/a
37	chr3:195749184-195749234	HCM	heart:	n/a
38	chr3:195750746-195750796	T-47D	breast:	n/a
39	chr3:195749184-195749234	GM06990	blood:	n/a
40	chr3:195749184-195749234	AG04450	lung:	fetal
41	chr3:195749184-195749234	GM12892	blood:	n/a
42	chr3:195750802-195750852	H1-hESC	embryonic stem cell:	embryo
43	chr3:195749184-195749234	NHDF-neo	bronchial:	n/a
44	chr3:195750746-195750796	AG10803	skin:	n/a
45	chr3:195750802-195750852	K562	blood:	n/a
46	chr3:195750802-195750852	GM19239	blood:	n/a
47	chr3:195749184-195749234	SK-N-SH	brain:	n/a
48	chr3:195750802-195750852	AG04450	lung:	fetal
49	chr3:195750746-195750796	RPTEC	kidney:	n/a
50	chr3:195750746-195750796	AG09309	skin:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195739603..195742034-chr3:195750125..195752226,2	K562	blood:
2	chr3:195753080..195754010-chr3:195766520..195767187,2	K562	blood:
3	chr3:195752917..195753695-chr3:195923252..195924169,5	MCF-7	breast:
4	chr3:195752860..195753471-chr3:195923207..195923770,2	MCF-7	breast:
5	chr3:195763073..195766225-chr3:195771147..195772842,4	K562	blood:
6	chr3:195761761..195765298-chr3:195766383..195769384,5	K562	blood:
7	chr3:195753080..195754010-chr3:195766520..195767187,2	K562	blood:
8	chr3:195761761..195765298-chr3:195766383..195769384,5	K562	blood:
9	chr3:195739603..195741433-chr3:195749296..195751625,2	K562	blood:
10	chr3:195752724..195755222-chr3:195806059..195808616,2	K562	blood:
11	chr3:195753017..195753709-chr3:195923167..195924096,4	K562	blood:
12	chr3:195752271..195755144-chr3:195758828..195761911,3	K562	blood:
13	chr3:195748338..195750578-chr3:195795206..195797813,2	K562	blood:
14	chr3:195751254..195754207-chr3:195773192..195776278,3	K562	blood:
15	chr3:195739964..195741679-chr3:195747678..195750674,2	MCF-7	breast:
16	chr3:195759077..195761603-chr3:195764559..195766896,2	K562	blood:
17	chr3:195764207..195765904-chr3:195808915..195810721,2	MCF-7	breast:
18	chr3:195752271..195755144-chr3:195758828..195761911,3	K562	blood:
19	chr3:195759077..195761603-chr3:195764559..195766896,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228413	TF binding region
ENSG00000228413	CpG island
ENSG00000072274	chromatin interactions
ENSG00000228413	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9837977	chr3:195746112-195746113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62283996	chr3:195746159-195746160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569627377	chr3:195746188-195746189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531029982	chr3:195746191-195746192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549457742	chr3:195746209-195746210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191098614	chr3:195746274-195746275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529115822	chr3:195746306-195746307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547260610	chr3:195746392-195746393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566005232	chr3:195746482-195746483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7653845	chr3:195746489-195746490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550967858	chr3:195746508-195746509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569272147	chr3:195746517-195746518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536767637	chr3:195746537-195746538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558350507	chr3:195746547-195746548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151291932	chr3:195746564-195746565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2290062	chr3:195746576-195746577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553279168	chr3:195746613-195746614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578227718	chr3:195746655-195746656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368006969	chr3:195746764-195746765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563682315	chr3:195746765-195746766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371477868	chr3:195746767-195746768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2290063	chr3:195746771-195746772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs538198573	chr3:195746787-195746788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553217849	chr3:195746803-195746804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2290064	chr3:195746813-195746814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs561468859	chr3:195746873-195746874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71630178	chr3:195746908-195746909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11921345	chr3:195746910-195746911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10452049	chr3:195746945-195746946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576029753	chr3:195746953-195746954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533069515	chr3:195747071-195747072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58411305	chr3:195747094-195747095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141357189	chr3:195747149-195747150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551229890	chr3:195747158-195747159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs398106905	chr3:195747159-195747160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182558360	chr3:195747193-195747194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188123650	chr3:195747214-195747215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548684548	chr3:195747233-195747234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567393290	chr3:195747236-195747237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74935402	chr3:195747247-195747248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553533750	chr3:195747255-195747256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571828768	chr3:195747288-195747289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539354985	chr3:195747368-195747369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7625570	chr3:195747398-195747399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs9325430	chr3:195747402-195747403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377001771	chr3:195747409-195747410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142337394	chr3:195747415-195747416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192944045	chr3:195747544-195747545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573291172	chr3:195747611-195747612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9848117	chr3:195747683-195747684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195743800-195746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:195746000-195747400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:195746000-195748600	Enhancers	Fetal Heart	heart
4	chr3:195746200-195746400	Enhancers	Osteobl	bone
5	chr3:195746400-195747000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:195746600-195746800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:195747400-195750800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:195748600-195748800	Bivalent Enhancer	Fetal Heart	heart
9	chr3:195748600-195749200	Enhancers	K562	blood
10	chr3:195749200-195749600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:195749200-195749800	Flanking Active TSS	K562	blood
12	chr3:195749400-195750800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:195749800-195750800	Enhancers	K562	blood
14	chr3:195750600-195753200	Weak transcription	Right Atrium	heart
15	chr3:195750800-195751800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:195750800-195752000	Weak transcription	K562	blood
17	chr3:195752000-195752200	Enhancers	K562	blood
18	chr3:195752200-195752600	Weak transcription	K562	blood
19	chr3:195752600-195753400	Enhancers	K562	blood
20	chr3:195757600-195757800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
21	chr3:195762400-195763000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:195762800-195780200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:195763000-195774600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:195764800-195765000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:195765000-195775200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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