Variant report

Variant	esv3373227
Chromosome Location	chr15:41204260-41208558
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41197749..41200811-chr15:41204877..41207703,3	K562	blood:
2	chr15:41195706..41196650-chr15:41206529..41207456,2	K562	blood:
3	chr15:41206715..41207215-chr15:41310574..41311389,2	MCF-7	breast:
4	chr15:41195189..41208751-chr15:41218816..41225232,20	MCF-7	breast:
5	chr15:41195521..41197212-chr15:41201966..41205731,3	K562	blood:
6	chr15:41198697..41200763-chr15:41203328..41205175,2	MCF-7	breast:
7	chr15:41197444..41200500-chr15:41205314..41208941,3	MCF-7	breast:
8	chr15:41206507..41209083-chr15:41209333..41212226,2	K562	blood:
9	chr15:41206994..41209856-chr15:41231483..41234125,2	MCF-7	breast:
10	chr15:41204562..41209137-chr15:41220021..41226170,6	K562	blood:
11	chr15:41206351..41206914-chr15:41476761..41477648,2	K562	blood:
12	chr15:41197734..41201998-chr15:41203561..41207172,6	K562	blood:
13	chr15:41203448..41205626-chr15:41209190..41211696,4	MCF-7	breast:
14	chr15:41207320..41209153-chr15:41215537..41217549,2	K562	blood:
15	chr15:41194927..41205036-chr15:41218861..41227276,20	MCF-7	breast:
16	chr15:41195654..41197212-chr15:41203181..41205731,2	K562	blood:
17	chr15:41208534..41211234-chr15:41247874..41250474,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251161	chromatin interactions
ENSG00000128917	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs554395985	chr15:41204280-41204281	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs574972690	chr15:41204381-41204382	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540508586	chr15:41204393-41204394	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552833412	chr15:41204395-41204396	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560723486	chr15:41204416-41204417	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568155438	chr15:41204435-41204436	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76725115	chr15:41204442-41204443	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546186600	chr15:41204455-41204456	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs880428	chr15:41204462-41204463	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs373138120	chr15:41204471-41204472	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531640183	chr15:41204478-41204479	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548661834	chr15:41204485-41204486	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568501938	chr15:41204546-41204547	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529857695	chr15:41204553-41204554	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546394331	chr15:41204569-41204570	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113928380	chr15:41204571-41204572	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538561599	chr15:41204573-41204574	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552085968	chr15:41204728-41204729	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377327275	chr15:41204836-41204837	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75633336	chr15:41204853-41204854	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537489799	chr15:41204907-41204908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548042096	chr15:41204909-41204910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187160344	chr15:41204983-41204984	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573151666	chr15:41205019-41205020	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190083498	chr15:41205046-41205047	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182886764	chr15:41205055-41205056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571032788	chr15:41205087-41205088	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539983453	chr15:41205110-41205111	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377062674	chr15:41205130-41205131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538769600	chr15:41205155-41205156	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376883792	chr15:41205162-41205163	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577549224	chr15:41205192-41205193	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187232928	chr15:41205249-41205250	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs60864408	chr15:41205375-41205376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs193268428	chr15:41205448-41205449	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563225551	chr15:41205459-41205460	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373947791	chr15:41205477-41205478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576377965	chr15:41205478-41205479	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185440184	chr15:41205483-41205484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188961949	chr15:41205512-41205513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs59897077	chr15:41205534-41205535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs57026082	chr15:41205545-41205546	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7497942	chr15:41205563-41205564	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192463229	chr15:41205712-41205713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200721099	chr15:41205737-41205738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552049682	chr15:41205795-41205796	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569097476	chr15:41205837-41205838	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12050497	chr15:41205853-41205854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184437920	chr15:41205854-41205855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568118798	chr15:41205913-41205914	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41197400-41205600	Enhancers	Lung	lung
2	chr15:41199200-41204600	Enhancers	Liver	Liver
3	chr15:41199400-41206400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:41199600-41205000	Enhancers	Fetal Intestine Large	intestine
5	chr15:41199600-41205400	Enhancers	Fetal Muscle Leg	muscle
6	chr15:41199800-41210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:41200000-41204400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:41200000-41204800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:41200000-41209400	Weak transcription	Fetal Brain Female	brain
10	chr15:41200200-41209800	Weak transcription	Right Ventricle	heart
11	chr15:41200400-41206600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:41200600-41206800	Weak transcription	Brain Germinal Matrix	brain
13	chr15:41201000-41205200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr15:41201400-41204800	Enhancers	Fetal Stomach	stomach
15	chr15:41201600-41205000	Enhancers	Spleen	Spleen
16	chr15:41201800-41205400	Enhancers	Placenta	Placenta
17	chr15:41202200-41205400	Enhancers	Fetal Thymus	thymus
18	chr15:41202200-41208000	Weak transcription	Pancreas	Pancrea
19	chr15:41202400-41204800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr15:41202400-41205400	Enhancers	GM12878-XiMat	blood
21	chr15:41202400-41210000	Weak transcription	Left Ventricle	heart
22	chr15:41202600-41207000	Weak transcription	Right Atrium	heart
23	chr15:41202800-41204600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:41203000-41204600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:41203000-41205200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr15:41203000-41205200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr15:41203000-41205200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:41203000-41205200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:41203200-41204800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:41203200-41205000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:41203400-41207800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr15:41203600-41204600	Enhancers	Gastric	stomach
33	chr15:41203600-41206200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:41203600-41207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:41203600-41214400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:41203800-41204400	Bivalent Enhancer	HepG2	liver
37	chr15:41203800-41206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:41203800-41206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:41203800-41206200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:41203800-41206200	Weak transcription	Adipose Nuclei	Adipose
41	chr15:41203800-41206200	Weak transcription	HUVEC	blood vessel
42	chr15:41203800-41207000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:41203800-41207000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:41203800-41207200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:41203800-41209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:41204000-41206200	Weak transcription	Fetal Lung	lung
47	chr15:41204200-41204400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:41204200-41204400	Enhancers	Fetal Muscle Trunk	muscle
49	chr15:41204200-41204600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:41204200-41204600	Enhancers	NHEK	skin

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