Variant report

Variant	nsv1048828
Chromosome Location	chr15:53250883-53288794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53263219..53264943-chr15:53268673..53270555,2	K562	blood:
2	chr15:53252599..53253221-chr15:53489181..53490104,2	MCF-7	breast:
3	chr15:53252240..53253636-chr15:53489235..53490173,5	MCF-7	breast:
4	chr15:53252582..53253162-chr15:54009367..54009914,2	MCF-7	breast:
5	chr15:53253811..53256628-chr15:53258694..53261563,2	MCF-7	breast:
6	chr15:53263219..53264943-chr15:53268673..53270555,2	K562	blood:
7	chr15:53253811..53256628-chr15:53258694..53261563,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC13C-8	chr15:53267931-53268046	NONHSAT043957

No data

Extended variants
information (count: 819 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557406285	chr15:53252623-53252624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190343428	chr15:53252626-53252627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528499406	chr15:53252710-53252711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577686228	chr15:53252720-53252721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540016464	chr15:53252726-53252727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182221647	chr15:53252731-53252732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9920367	chr15:53253236-53253237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547618933	chr15:53253244-53253245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567836258	chr15:53253250-53253251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34414616	chr15:53253273-53253274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530263090	chr15:53253280-53253281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116343711	chr15:53253314-53253315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367557963	chr15:53253346-53253347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570037058	chr15:53253400-53253401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140918884	chr15:53253405-53253406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182573450	chr15:53253420-53253421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571211085	chr15:53253444-53253445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533883579	chr15:53253451-53253452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10775150	chr15:53253466-53253467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557447408	chr15:53253505-53253506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544436956	chr15:53253526-53253527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185416236	chr15:53253550-53253551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146184612	chr15:53253552-53253553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576413413	chr15:53253569-53253570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192005559	chr15:53253583-53253584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35756322	chr15:53253608-53253609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147838757	chr15:53253643-53253644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150207389	chr15:53253705-53253706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541496937	chr15:53253719-53253720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561251235	chr15:53253737-53253738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144005042	chr15:53253790-53253791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530202669	chr15:53253821-53253822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549978765	chr15:53253825-53253826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569976487	chr15:53253854-53253855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28730451	chr15:53253872-53253873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141437824	chr15:53253891-53253892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16965348	chr15:53253918-53253919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533587223	chr15:53253936-53253937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567383656	chr15:53253940-53253941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28429526	chr15:53253951-53253952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35120707	chr15:53253957-53253958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534825503	chr15:53254042-53254043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563939422	chr15:53254048-53254049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556395746	chr15:53254057-53254058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193109365	chr15:53254063-53254064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566950933	chr15:53254069-53254070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538911843	chr15:53254071-53254072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558611178	chr15:53254089-53254090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541248051	chr15:53254106-53254107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541087100	chr15:53254154-53254155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Melanoma	21949216	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53252600-53252800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr15:53253200-53253800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr15:53253400-53253600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr15:53253800-53256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:53255400-53257200	Enhancers	Liver	Liver
6	chr15:53255800-53256200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:53256200-53256600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr15:53256200-53256600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr15:53256200-53256600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:53256200-53257000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr15:53256400-53256800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:53256400-53257200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr15:53256400-53257200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr15:53263600-53264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr15:53263600-53264200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:53263800-53264400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:53264200-53276800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:53265600-53269000	Enhancers	Liver	Liver
19	chr15:53268000-53269200	Enhancers	Brain Germinal Matrix	brain
20	chr15:53268400-53269000	Enhancers	Fetal Brain Male	brain
21	chr15:53273200-53273400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:53273200-53273800	Enhancers	Dnd41	blood
23	chr15:53276400-53277000	Enhancers	Brain Germinal Matrix	brain
24	chr15:53276400-53277200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr15:53276800-53277000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:53276800-53277200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr15:53277000-53277200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:53286000-53287000	Enhancers	Liver	Liver

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