Variant report

Variant	nsv1046144
Chromosome Location	chr15:56785970-56800965
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56788688..56789403-chr15:57430424..57431057,2	MCF-7	breast:
2	chr15:56788456..56789162-chr15:57113822..57114589,2	MCF-7	breast:
3	chr15:56787707..56790107-chr15:57597582..57600140,2	MCF-7	breast:
4	chr15:56788702..56789394-chr15:57161523..57162414,2	MCF-7	breast:
5	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
6	chr15:56788863..56789371-chr16:34759996..34760825,2	MCF-7	breast:
7	chr15:56788444..56789415-chr15:57598413..57599206,3	K562	blood:
8	chr15:56788851..56789408-chr15:57103635..57104349,2	MCF-7	breast:
9	chr15:56788753..56789362-chr15:57161247..57161954,2	K562	blood:
10	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:

No data

Extended variants
information (count: 522 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76991756	chr15:56785979-56785980	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs115329982	chr15:56786018-56786019	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556610540	chr15:56786022-56786023	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs114078788	chr15:56786086-56786087	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114594194	chr15:56786092-56786093	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187523451	chr15:56786132-56786133	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566284943	chr15:56786135-56786136	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141355411	chr15:56786171-56786172	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548943887	chr15:56786190-56786191	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568724630	chr15:56786195-56786196	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145157735	chr15:56786250-56786251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139031010	chr15:56786282-56786283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs939393	chr15:56786290-56786291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79309111	chr15:56786302-56786303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115396718	chr15:56786347-56786348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142335380	chr15:56786380-56786381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75242906	chr15:56786407-56786408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs207475517	chr15:56786457-56786458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555416848	chr15:56786493-56786494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73417810	chr15:56786498-56786499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150078442	chr15:56786573-56786574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563716216	chr15:56786729-56786730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532507435	chr15:56786737-56786738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546321276	chr15:56786738-56786739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559881130	chr15:56786751-56786752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549262685	chr15:56786800-56786801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528734588	chr15:56786802-56786803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548745750	chr15:56786803-56786804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562276091	chr15:56786822-56786823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531260506	chr15:56786836-56786837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192492893	chr15:56786879-56786880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570123839	chr15:56786884-56786885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372480862	chr15:56786924-56786925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114411412	chr15:56786925-56786926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144062748	chr15:56786937-56786938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542784932	chr15:56786965-56786966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183823089	chr15:56787075-56787076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531622549	chr15:56787080-56787081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188692756	chr15:56787109-56787110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13380027	chr15:56787114-56787115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372260186	chr15:56787121-56787122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56909789	chr15:56787123-56787124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538151016	chr15:56787151-56787152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567587461	chr15:56787170-56787171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149258427	chr15:56787194-56787195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112916918	chr15:56787203-56787204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191886242	chr15:56787212-56787213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1715934	chr15:56787273-56787274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573349765	chr15:56787275-56787276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541932572	chr15:56787281-56787282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56783200-56786600	Weak transcription	Stomach Mucosa	stomach
2	chr15:56783800-56789000	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:56784600-56786200	Flanking Active TSS	Dnd41	blood
4	chr15:56785400-56789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:56785400-56789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:56785400-56789200	Enhancers	Thymus	Thymus
7	chr15:56785600-56786200	Genic enhancers	Fetal Thymus	thymus
8	chr15:56786200-56787800	Enhancers	Dnd41	blood
9	chr15:56786200-56789400	Enhancers	Fetal Thymus	thymus
10	chr15:56786600-56787000	Enhancers	Colonic Mucosa	Colon
11	chr15:56786600-56788000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr15:56786600-56788000	Enhancers	Stomach Mucosa	stomach
13	chr15:56786600-56788400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:56787000-56788200	Enhancers	Fetal Intestine Small	intestine
15	chr15:56787400-56787800	Enhancers	Duodenum Mucosa	Duodenum
16	chr15:56787400-56788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:56787400-56788200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr15:56787800-56788800	Weak transcription	Dnd41	blood
19	chr15:56787800-56789000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:56788000-56788200	Enhancers	Fetal Intestine Large	intestine
21	chr15:56788000-56788800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:56788000-56789000	Weak transcription	Stomach Mucosa	stomach
23	chr15:56788200-56788800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr15:56788200-56789000	Weak transcription	Fetal Intestine Large	intestine
25	chr15:56788200-56789200	Weak transcription	Fetal Intestine Small	intestine
26	chr15:56788400-56788800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:56788800-56789000	Enhancers	Brain Angular Gyrus	brain
28	chr15:56788800-56789000	Active TSS	Brain Anterior Caudate	brain
29	chr15:56788800-56789000	Active TSS	Stomach Smooth Muscle	stomach
30	chr15:56788800-56789200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr15:56788800-56789200	Active TSS	Brain Substantia Nigra	brain
32	chr15:56788800-56789200	Active TSS	Colon Smooth Muscle	Colon
33	chr15:56788800-56789200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr15:56788800-56789400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:56788800-56789400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr15:56788800-56790800	Enhancers	Dnd41	blood
37	chr15:56789000-56789200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:56789000-56789200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:56789000-56789200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:56789000-56789200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:56789000-56789200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
42	chr15:56789000-56789200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:56789000-56789200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:56789000-56789200	Enhancers	Brain Hippocampus Middle	brain
45	chr15:56789000-56789200	Enhancers	Fetal Kidney	kidney
46	chr15:56789000-56789200	Enhancers	Psoas Muscle	Psoas
47	chr15:56789000-56789200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr15:56789000-56789200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:56789000-56789200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr15:56789000-56789200	Enhancers	HMEC	breast

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