Variant report

Variant	nsv977749
Chromosome Location	chr15:83710730-83714630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr15:83711279-83711551	K562	blood:	n/a	n/a
2	CTCF	chr15:83713081-83713161	MCF-7	breast:	n/a	n/a
3	POLR2A	chr15:83714100-83714109	MCF-7	breast:	n/a	n/a
4	POLR2A	chr15:83711771-83712386	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:83711959-83712286	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:83713043-83713147	A549	lung:	n/a	n/a
7	POLR2A	chr15:83713085-83713144	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:83713111-83713450	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:83714313-83714317	K562	blood:	n/a	n/a
10	POLR2A	chr15:83711700-83712200	GM12891	blood:	n/a	n/a
11	POLR2A	chr15:83713024-83713029	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:83713196-83713647	K562	blood:	n/a	n/a
13	POLR2A	chr15:83711450-83711713	GM12891	blood:	n/a	n/a
14	POLR2A	chr15:83711763-83712013	ProgFib	skin:	n/a	n/a
15	POLR2A	chr15:83714121-83714200	MCF-7	breast:	n/a	n/a
16	POLR2A	chr15:83711586-83712251	GM12892	blood:	n/a	n/a
17	POLR2A	chr15:83711802-83712741	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:83713014-83713161	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:83714385-83714734	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr15:83712080-83712223	K562	blood:	n/a	n/a
21	POLR2A	chr15:83711857-83712360	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:83711408-83712348	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:83713202-83713209	K562	blood:	n/a	n/a
24	POLR2A	chr15:83713428-83713586	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:83711902-83712259	K562	blood:	n/a	n/a
26	POLR2A	chr15:83711971-83712318	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr15:83711724-83712378	K562	blood:	n/a	n/a
28	POLR2A	chr15:83711486-83712886	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:83706535..83711494-chr15:83875161..83878411,4	MCF-7	breast:
2	chr15:83709446..83712145-chr15:83714233..83716291,3	MCF-7	breast:
3	chr15:83678705..83681278-chr15:83710767..83712606,2	MCF-7	breast:
4	chr15:83712253..83714885-chr15:83774266..83777073,2	K562	blood:
5	chr15:83714280..83716430-chr15:83733917..83736956,4	MCF-7	breast:
6	chr15:83714522..83717399-chr15:83720662..83723251,3	MCF-7	breast:
7	chr15:83678274..83681051-chr15:83713533..83717872,4	MCF-7	breast:

No data

Variant related genes	Relation type
BTBD1	TF binding region
ENSG00000259308	TF binding region
ENSG00000064726	chromatin interactions
ENSG00000166503	chromatin interactions
ENSG00000136404	chromatin interactions
ENSG00000263643	chromatin interactions
ENSG00000169609	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576108825	chr15:83710791-83710792	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538309056	chr15:83710855-83710856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368986368	chr15:83711000-83711001	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558340727	chr15:83711026-83711027	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571900419	chr15:83711069-83711070	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs72401271	chr15:83711101-83711102	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs60264556	chr15:83711102-83711103	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
8	rs113095768	chr15:83711115-83711116	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs61294242	chr15:83711128-83711129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs71156071	chr15:83711129-83711130	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9646237	chr15:83711130-83711131	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs9646238	chr15:83711134-83711135	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs57274218	chr15:83711149-83711150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs398119026	chr15:83711156-83711157	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561734379	chr15:83711157-83711158	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540975036	chr15:83711188-83711189	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546179169	chr15:83711189-83711190	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190946141	chr15:83711204-83711205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573988172	chr15:83711211-83711212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139377186	chr15:83711212-83711213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562713790	chr15:83711320-83711321	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs374822001	chr15:83711348-83711349	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564925240	chr15:83711363-83711364	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs201716912	chr15:83711393-83711394	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs28540116	chr15:83711450-83711451	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs9646239	chr15:83711468-83711469	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527862954	chr15:83711594-83711595	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs183096134	chr15:83711608-83711609	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562590187	chr15:83711676-83711677	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs111584244	chr15:83711702-83711703	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs548373607	chr15:83711791-83711792	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs76214137	chr15:83711817-83711818	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188132536	chr15:83711826-83711827	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs569511388	chr15:83711976-83711977	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs566539785	chr15:83712028-83712029	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs527629148	chr15:83712036-83712037	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs117317772	chr15:83712044-83712045	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558228011	chr15:83712052-83712053	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs192186695	chr15:83712077-83712078	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs534496263	chr15:83712092-83712093	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs146598972	chr15:83712097-83712098	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs117590831	chr15:83712133-83712134	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs140923642	chr15:83712137-83712138	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs200527246	chr15:83712138-83712139	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs562938637	chr15:83712142-83712143	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs576352359	chr15:83712224-83712225	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs545544252	chr15:83712233-83712234	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs55868287	chr15:83712274-83712275	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527751374	chr15:83712283-83712284	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs548030658	chr15:83712294-83712295	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83681600-83732000	Weak transcription	Stomach Mucosa	stomach
2	chr15:83683000-83723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:83683400-83726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:83695400-83714600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:83695800-83715400	Weak transcription	HSMMtube	muscle
6	chr15:83697800-83721000	Strong transcription	Fetal Intestine Large	intestine
7	chr15:83698800-83712000	Weak transcription	Colonic Mucosa	Colon
8	chr15:83699000-83712000	Weak transcription	Gastric	stomach
9	chr15:83699000-83715800	Weak transcription	Brain Substantia Nigra	brain
10	chr15:83699000-83716800	Weak transcription	Aorta	Aorta
11	chr15:83699000-83725800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:83700400-83734400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:83701600-83732800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:83704800-83710800	Strong transcription	Primary B cells from cord blood	blood
15	chr15:83705000-83720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:83705000-83725800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:83705000-83731000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:83705200-83715000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:83705200-83720000	Strong transcription	Dnd41	blood
20	chr15:83705600-83711000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:83705600-83712200	Weak transcription	NHDF-Ad	bronchial
22	chr15:83705600-83714400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:83705600-83721400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:83705800-83710800	Strong transcription	Primary T cells from cord blood	blood
25	chr15:83706000-83725400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:83706200-83711000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:83706600-83718000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:83706800-83712600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:83706800-83713400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:83706800-83726600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:83707000-83725400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:83707400-83712600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:83707400-83712800	Strong transcription	HepG2	liver
34	chr15:83707400-83713000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr15:83707400-83713400	Strong transcription	Fetal Thymus	thymus
36	chr15:83707400-83718400	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:83707400-83725400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:83707800-83719200	Strong transcription	GM12878-XiMat	blood
39	chr15:83708000-83710800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr15:83708000-83711000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:83708000-83711000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr15:83708000-83713400	Strong transcription	Adipose Nuclei	Adipose
43	chr15:83708000-83713600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:83708000-83718000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:83708000-83718200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr15:83708000-83722000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:83708000-83725400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:83708200-83710800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:83708200-83710800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:83708200-83710800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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