Variant report

Variant	esv3422288
Chromosome Location	chr15:77851840-77853265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77851228..77852752-chr15:77859516..77862066,2	K562	blood:
2	chr15:77852881..77857213-chr15:77858380..77864202,5	K562	blood:

Variant related genes	Relation type
ENSG00000259420	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28740786	chr15:77851845-77851846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188890113	chr15:77851857-77851858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530635218	chr15:77851904-77851905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139022539	chr15:77851921-77851922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149912999	chr15:77851937-77851938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74545682	chr15:77851940-77851941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543661301	chr15:77851953-77851954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565535130	chr15:77851964-77851965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532736397	chr15:77851967-77851968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547387028	chr15:77851972-77851973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78682688	chr15:77851975-77851976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193226455	chr15:77851977-77851978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12908292	chr15:77851982-77851983	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570071150	chr15:77851984-77851985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537201544	chr15:77851986-77851987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77621051	chr15:77851992-77851993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75605516	chr15:77851996-77851997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369462276	chr15:77852010-77852011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372937245	chr15:77852036-77852037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558481338	chr15:77852037-77852038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566396039	chr15:77852066-77852067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570715821	chr15:77852075-77852076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72744575	chr15:77852096-77852097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552989342	chr15:77852103-77852104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376035086	chr15:77852133-77852134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574451012	chr15:77852146-77852147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541870359	chr15:77852149-77852150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556971143	chr15:77852150-77852151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575255037	chr15:77852154-77852155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543989999	chr15:77852171-77852172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565388331	chr15:77852210-77852211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532816650	chr15:77852215-77852216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541357328	chr15:77852224-77852225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559634298	chr15:77852225-77852226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530006277	chr15:77852229-77852230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548180277	chr15:77852246-77852247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74026936	chr15:77852260-77852261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563761095	chr15:77852274-77852275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149096557	chr15:77852282-77852283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552344684	chr15:77852295-77852296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570590158	chr15:77852299-77852300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374535755	chr15:77852314-77852315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185242706	chr15:77852357-77852358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144368049	chr15:77852358-77852359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34616042	chr15:77852372-77852373	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373238456	chr15:77852415-77852416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535402724	chr15:77852455-77852456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147851538	chr15:77852460-77852461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114022902	chr15:77852462-77852463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539189250	chr15:77852518-77852519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77848000-77855800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:77850000-77855400	Weak transcription	Brain Angular Gyrus	brain
3	chr15:77850000-77855800	Weak transcription	Brain Anterior Caudate	brain
4	chr15:77850200-77855600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:77850200-77857200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:77850200-77857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:77850400-77855600	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:77850600-77859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:77851200-77857200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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