Variant report

Variant	esv3328068
Chromosome Location	chr15:93515098-93517096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:93515007-93515207	K562	blood:	n/a	n/a
2	MAFK	chr15:93515282-93515331	K562	blood:	n/a	n/a
3	POLR2A	chr15:93515594-93515633	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:93517011-93517230	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:93516856-93517013	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:93514052-93515739	K562	blood:	n/a	n/a
7	POLR2A	chr15:93515590-93515645	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:93516246-93516317	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:93515097-93515139	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:93516227-93516230	MCF-7	breast:	n/a	n/a
11	POLR2A	chr15:93516507-93516515	MCF-7	breast:	n/a	n/a
12	POLR2A	chr15:93516206-93516404	K562	blood:	n/a	n/a
13	POLR2A	chr15:93514995-93515665	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:93517066-93517256	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:93516849-93519729	K562	blood:	n/a	n/a
16	POLR2A	chr15:93516233-93516505	MCF-7	breast:	n/a	n/a
17	POLR2A	chr15:93515156-93515171	MCF-7	breast:	n/a	n/a
18	POLR2A	chr15:93516155-93516538	K562	blood:	n/a	n/a
19	POLR2A	chr15:93516129-93516570	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:93516943-93516994	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93511174..93514102-chr15:93516805..93519386,2	MCF-7	breast:
2	chr15:93517012..93519179-chr15:93520769..93522960,2	MCF-7	breast:
3	chr15:93510873..93513397-chr15:93516990..93519575,2	K562	blood:
4	chr15:93441189..93443550-chr15:93516285..93518087,2	MCF-7	breast:
5	chr15:93352049..93354053-chr15:93513074..93515760,2	MCF-7	breast:

No data

Variant related genes	Relation type
CHD2	TF binding region
ENSG00000185442	chromatin interactions
ENSG00000173575	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138084718	chr15:93515142-93515143	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs3215369	chr15:93515185-93515186	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181198036	chr15:93515194-93515195	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs16974312	chr15:93515232-93515233	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147208181	chr15:93515259-93515260	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553297741	chr15:93515317-93515318	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529330679	chr15:93515353-93515354	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547925763	chr15:93515357-93515358	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568678799	chr15:93515378-93515379	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185298598	chr15:93515382-93515383	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554101979	chr15:93515388-93515389	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566248064	chr15:93515421-93515422	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62023144	chr15:93515439-93515440	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375006928	chr15:93515462-93515463	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369974911	chr15:93515474-93515475	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190159225	chr15:93515485-93515486	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558236184	chr15:93515492-93515493	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369618673	chr15:93515537-93515538	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372801085	chr15:93515544-93515545	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146691368	chr15:93515567-93515568	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574954863	chr15:93515673-93515674	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375878245	chr15:93515678-93515679	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570242850	chr15:93515680-93515681	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148270309	chr15:93515686-93515687	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560912306	chr15:93515690-93515691	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374981618	chr15:93515695-93515696	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368857338	chr15:93515697-93515698	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574671770	chr15:93515705-93515706	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181432825	chr15:93515710-93515711	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560135305	chr15:93515730-93515731	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141376715	chr15:93515760-93515761	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76581652	chr15:93515763-93515764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368325080	chr15:93515798-93515799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111441731	chr15:93515799-93515800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373413744	chr15:93515802-93515803	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555014496	chr15:93515942-93515943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567262090	chr15:93516036-93516037	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199516896	chr15:93516097-93516098	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200651057	chr15:93516098-93516099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201528462	chr15:93516099-93516100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199753424	chr15:93516100-93516101	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534387759	chr15:93516135-93516136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531810402	chr15:93516174-93516175	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199544008	chr15:93516177-93516178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548628166	chr15:93516193-93516194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74838597	chr15:93516216-93516217	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577352971	chr15:93516228-93516229	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534262296	chr15:93516248-93516249	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111685150	chr15:93516259-93516260	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117771466	chr15:93516299-93516300	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93493200-93533000	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:93493200-93536000	Strong transcription	HSMM	muscle
3	chr15:93493200-93571000	Strong transcription	Dnd41	blood
4	chr15:93493200-93571200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr15:93493400-93548000	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr15:93493400-93568600	Strong transcription	Liver	Liver
7	chr15:93493400-93569600	Strong transcription	Placenta	Placenta
8	chr15:93493400-93571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:93493400-93571000	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr15:93493600-93521600	Strong transcription	Osteobl	bone
11	chr15:93493600-93523400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:93493600-93571400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:93493800-93522400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr15:93493800-93532600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:93493800-93561400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:93493800-93571400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:93494000-93520800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:93494000-93568200	Strong transcription	Fetal Thymus	thymus
19	chr15:93494000-93570400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:93494000-93570800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:93494000-93571000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:93494000-93571400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:93494400-93540600	Strong transcription	Primary T cells from cord blood	blood
24	chr15:93495000-93524800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:93496600-93525800	Weak transcription	Stomach Mucosa	stomach
26	chr15:93497600-93517800	Weak transcription	Esophagus	oesophagus
27	chr15:93501400-93524000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:93501600-93521600	Strong transcription	NH-A	brain
29	chr15:93502400-93523600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:93504000-93523400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:93504000-93567800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:93504800-93515400	Weak transcription	Lung	lung
33	chr15:93505000-93569800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:93506000-93569800	Strong transcription	HepG2	liver
35	chr15:93506400-93561800	Strong transcription	A549	lung
36	chr15:93506400-93569600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr15:93507000-93532800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:93507400-93517800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:93507800-93517800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:93508000-93532600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:93509600-93519800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr15:93509600-93520000	Strong transcription	Fetal Brain Female	brain
43	chr15:93509600-93522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:93509600-93522400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:93509600-93525000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:93509600-93535400	Strong transcription	Fetal Muscle Leg	muscle
47	chr15:93509600-93542400	Strong transcription	Hela-S3	cervix
48	chr15:93509600-93568000	Strong transcription	Primary B cells from cord blood	blood
49	chr15:93509600-93569600	Strong transcription	NHDF-Ad	bronchial
50	chr15:93509600-93571200	Strong transcription	Fetal Lung	lung

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