Variant report

Variant	esv3447317
Chromosome Location	chr3:195811986-195812806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:195812531-195812874	HL-60	blood:	n/a	chr3:195812546-195812553

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195812701-195812751	AG09319	gingival:	n/a
2	chr3:195812701-195812751	Hela-S3	cervix:	n/a
3	chr3:195812701-195812751	ProgFib	skin:	n/a
4	chr3:195812701-195812751	PrEC	prostate:	n/a
5	chr3:195812701-195812751	SAEC	small airway:	n/a
6	chr3:195812701-195812751	SK-N-SH_RA	brain:	n/a
7	chr3:195812701-195812751	CMK	blood:	n/a
8	chr3:195812701-195812751	HEK293	kidney:	embryo
9	chr3:195812701-195812751	HUVEC	blood vessel:	n/a
10	chr3:195812701-195812751	HCT-116	colon:	n/a
11	chr3:195812701-195812751	LNCaP	prostate:	n/a
12	chr3:195812701-195812751	ovcar-3	ovarian:	n/a
13	chr3:195812701-195812751	HMEC	breast:	n/a
14	chr3:195812701-195812751	BE2_C	brain:	n/a
15	chr3:195812701-195812751	GM12892	blood:	n/a
16	chr3:195812701-195812751	HRE	kidney:	n/a
17	chr3:195812701-195812751	HNPCEpiC	eye:	n/a
18	chr3:195812701-195812751	AG09309	skin:	n/a
19	chr3:195812701-195812751	NB4	blood:	n/a
20	chr3:195812701-195812751	SKMC	muscle:	n/a
21	chr3:195812701-195812751	HCM	heart:	n/a
22	chr3:195812701-195812751	RPTEC	kidney:	n/a
23	chr3:195812701-195812751	HCF	heart:	n/a
24	chr3:195812701-195812751	AG04449	skin:	fetal
25	chr3:195812701-195812751	HCPEpiC	choroid plexus:	n/a
26	chr3:195812701-195812751	H1-hESC	embryonic stem cell:	embryo
27	chr3:195812701-195812751	GM12878	blood:	n/a
28	chr3:195812701-195812751	HRPEpiC	eye:	n/a
29	chr3:195812701-195812751	Hepatocyte	liver:	n/a
30	chr3:195812701-195812751	BJ	skin:	n/a
31	chr3:195812701-195812751	GM19239	blood:	n/a
32	chr3:195812701-195812751	K562	blood:	n/a
33	chr3:195812701-195812751	NT2-D1	testis:	n/a
34	chr3:195812701-195812751	T-47D	breast:	n/a
35	chr3:195812701-195812751	HRCEpiC	kidney:	n/a
36	chr3:195812701-195812751	HepG2	liver:	n/a
37	chr3:195812701-195812751	A549	lung:	n/a
38	chr3:195812701-195812751	Jurkat	blood:	n/a
39	chr3:195812701-195812751	HAEpiC	amniotic membrane:	n/a
40	chr3:195812701-195812751	AG04450	lung:	fetal
41	chr3:195812701-195812751	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:195812701-195812751	NHDF-neo	bronchial:	n/a
43	chr3:195812701-195812751	HIPEpiC	eye:	n/a
44	chr3:195812701-195812751	NH-A	brain:	n/a
45	chr3:195812701-195812751	U87	brain:	n/a
46	chr3:195812701-195812751	SK-N-SH	brain:	n/a
47	chr3:195812701-195812751	GM06990	blood:	n/a
48	chr3:195812701-195812751	MCF10A-Er-Src	breast:	n/a
49	chr3:195812701-195812751	GM12891	blood:	n/a
50	chr3:195812701-195812751	AoSMC	blood vessel:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195807696..195810265-chr3:195811097..195814748,4	MCF-7	breast:
3	chr3:195782593..195785081-chr3:195810748..195812447,2	K562	blood:
4	chr3:195793504..195812415-chr3:195915832..195927942,46	K562	blood:

No data

Variant related genes	Relation type
TFRC	TF binding region
TFRC	CpG island
ENSG00000163958	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000222335	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536052118	chr3:195812018-195812019	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs556767385	chr3:195812033-195812034	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs182045920	chr3:195812052-195812053	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs536107138	chr3:195812053-195812054	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs6793116	chr3:195812088-195812089	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572339760	chr3:195812118-195812119	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs6793127	chr3:195812123-195812124	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147682934	chr3:195812127-195812128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576098345	chr3:195812136-195812137	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs544014379	chr3:195812159-195812160	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs6810239	chr3:195812163-195812164	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79088388	chr3:195812194-195812195	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs576469050	chr3:195812203-195812204	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs6802714	chr3:195812220-195812221	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527276509	chr3:195812256-195812257	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs552278293	chr3:195812263-195812264	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs148065083	chr3:195812278-195812279	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537906802	chr3:195812287-195812288	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs550399525	chr3:195812310-195812311	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs71621211	chr3:195812323-195812324	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs184658196	chr3:195812362-195812363	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs555733826	chr3:195812393-195812394	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs144896798	chr3:195812425-195812426	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs536195132	chr3:195812429-195812430	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs141780320	chr3:195812479-195812480	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs572429658	chr3:195812482-195812483	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs539470156	chr3:195812542-195812543	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs558096249	chr3:195812549-195812550	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs576139400	chr3:195812568-195812569	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs543466834	chr3:195812594-195812595	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs188974606	chr3:195812625-195812626	Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs574285875	chr3:195812651-195812652	Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs150096056	chr3:195812701-195812702	Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs529820333	chr3:195812737-195812738	Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195809800-195812400	Weak transcription	Fetal Thymus	thymus
2	chr3:195809800-195812600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr3:195810000-195812200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:195810000-195812400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:195810000-195812400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:195810000-195812400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:195810000-195812400	Weak transcription	GM12878-XiMat	blood
8	chr3:195810000-195812400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:195810200-195812400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:195810200-195812400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:195811800-195813000	Enhancers	K562	blood
12	chr3:195812200-195813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:195812400-195812600	Enhancers	Fetal Thymus	thymus
14	chr3:195812400-195812800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:195812400-195812800	Enhancers	GM12878-XiMat	blood
16	chr3:195812400-195813000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:195812400-195813200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:195812400-195813200	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:195812400-195813200	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:195812400-195813400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:195812400-195813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:195812600-195812800	Enhancers	Primary neutrophils fromperipheralblood	blood

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