Variant report

Variant	esv3412971
Chromosome Location	chr15:43311783-43312298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:43312044-43312087	GM20000	blood:	n/a	n/a
2	POLR2A	chr15:43311812-43311932	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43306847..43311067-chr15:43312226..43316473,3	K562	blood:

Variant related genes	Relation type
UBR1	TF binding region
ENSG00000159459	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578168225	chr15:43311787-43311788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11638073	chr15:43311834-43311835	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556812780	chr15:43311843-43311844	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182654397	chr15:43311844-43311845	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556527161	chr15:43311866-43311867	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575010823	chr15:43311883-43311884	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547755498	chr15:43311925-43311926	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559014558	chr15:43311931-43311932	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs371179877	chr15:43311941-43311942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528292222	chr15:43311950-43311951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544847136	chr15:43311951-43311952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11413335	chr15:43311959-43311960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397952887	chr15:43311975-43311976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565200058	chr15:43312032-43312033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8035894	chr15:43312054-43312055	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs143671715	chr15:43312101-43312102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115495518	chr15:43312125-43312126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190928439	chr15:43312174-43312175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539117709	chr15:43312180-43312181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183424721	chr15:43312181-43312182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200127620	chr15:43312260-43312261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372450562	chr15:43312261-43312262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43248000-43320600	Weak transcription	Stomach Mucosa	stomach
3	chr15:43267200-43323000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:43269000-43312800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:43269800-43314800	Weak transcription	Fetal Brain Male	brain
7	chr15:43269800-43335200	Weak transcription	Small Intestine	intestine
8	chr15:43287400-43346000	Weak transcription	A549	lung
9	chr15:43292000-43316000	Weak transcription	Fetal Heart	heart
10	chr15:43296200-43312800	Weak transcription	HMEC	breast
11	chr15:43297400-43348000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:43298600-43346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:43298800-43346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43299000-43312800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:43299400-43346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:43299600-43313400	Weak transcription	NHDF-Ad	bronchial
17	chr15:43300800-43312400	Weak transcription	Brain Angular Gyrus	brain
18	chr15:43301400-43313400	Weak transcription	K562	blood
19	chr15:43301400-43314800	Weak transcription	HepG2	liver
20	chr15:43301600-43312400	Weak transcription	Brain Substantia Nigra	brain
21	chr15:43301600-43321400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:43301800-43312200	Weak transcription	Right Ventricle	heart
23	chr15:43301800-43318800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:43301800-43343800	Weak transcription	Psoas Muscle	Psoas
25	chr15:43301800-43345800	Weak transcription	Colonic Mucosa	Colon
26	chr15:43301800-43345800	Weak transcription	Pancreas	Pancrea
27	chr15:43301800-43385800	Weak transcription	Gastric	stomach
28	chr15:43302000-43312600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:43302000-43312800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:43302200-43312000	Weak transcription	HSMM	muscle
31	chr15:43302200-43312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:43302800-43312600	Weak transcription	Fetal Kidney	kidney
33	chr15:43303400-43312600	Weak transcription	Ovary	ovary
34	chr15:43303400-43316000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:43303400-43345800	Weak transcription	Aorta	Aorta
36	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
37	chr15:43304000-43312000	Weak transcription	Fetal Thymus	thymus
38	chr15:43304600-43318200	Strong transcription	Placenta	Placenta
39	chr15:43305600-43318600	Strong transcription	Fetal Brain Female	brain
40	chr15:43306000-43312600	Weak transcription	Brain Anterior Caudate	brain
41	chr15:43306000-43312600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:43306000-43313000	Strong transcription	Fetal Stomach	stomach
43	chr15:43306800-43331000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:43307200-43331000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:43307400-43312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:43307400-43315200	Weak transcription	Spleen	Spleen
47	chr15:43307600-43314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:43307600-43331600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:43307800-43318600	Strong transcription	Osteobl	bone
50	chr15:43307800-43320600	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links