Variant report

Variant	esv3524418
Chromosome Location	chr3:195899778-195900306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195805984..195810331-chr3:195892473..195900125,13	K562	blood:
2	chr3:195900051..195902109-chr3:195908917..195911441,2	K562	blood:
3	chr3:195894083..195898677-chr3:195900136..195905272,5	K562	blood:
4	chr3:195806708..195809670-chr3:195898036..195900299,3	K562	blood:
5	chr3:195861587..195863188-chr3:195899097..195901259,2	K562	blood:

Variant related genes	Relation type
ENSG00000072274	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372874116	chr3:195899812-195899813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568810272	chr3:195899816-195899817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530336343	chr3:195899868-195899869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548456477	chr3:195899872-195899873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567190443	chr3:195899890-195899891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142050116	chr3:195899897-195899898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73891217	chr3:195899905-195899906	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376437356	chr3:195899927-195899928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6796637	chr3:195899938-195899939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562308059	chr3:195899974-195899975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145609066	chr3:195899981-195899982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6796715	chr3:195899999-195900000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142498561	chr3:195900004-195900005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11916183	chr3:195900019-195900020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs57495647	chr3:195900032-195900033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79068288	chr3:195900034-195900035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs80067428	chr3:195900038-195900039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573137903	chr3:195900063-195900064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540127299	chr3:195900085-195900086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11915256	chr3:195900093-195900094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564796572	chr3:195900096-195900097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11929163	chr3:195900113-195900114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11916213	chr3:195900126-195900127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71161911	chr3:195900128-195900129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192821461	chr3:195900129-195900130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577785059	chr3:195900187-195900188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562616638	chr3:195900197-195900198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73891218	chr3:195900222-195900223	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73891219	chr3:195900226-195900227	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566951245	chr3:195900231-195900232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528034859	chr3:195900258-195900259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552915943	chr3:195900291-195900292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195883400-195904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:195887600-195905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:195891200-195905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:195891600-195904400	Weak transcription	Colonic Mucosa	Colon
5	chr3:195891800-195905600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:195891800-195906200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:195892400-195902200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:195892800-195902600	Weak transcription	K562	blood
9	chr3:195896200-195901400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:195896200-195904400	Weak transcription	Adipose Nuclei	Adipose
11	chr3:195896400-195901200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:195896800-195900400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:195896800-195905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:195897000-195901200	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:195897000-195904400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:195897000-195904400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:195897000-195909000	Weak transcription	Spleen	Spleen
18	chr3:195897200-195906600	Weak transcription	Pancreas	Pancrea
19	chr3:195898400-195906400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:195898800-195902200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:195899400-195902400	Weak transcription	Primary monocytes fromperipheralblood	blood

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