Variant report

Variant	esv3429788
Chromosome Location	chr15:42701542-42701904
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	POLR2A	chr15:42701310-42701609	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:42701544-42701808	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr15:42701557-42701601	K562	blood:	n/a	n/a
4	POLR2A	chr15:42701655-42701685	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:42700252-42703851	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42696812..42699500-chr15:42700218..42703009,3	K562	blood:
2	chr15:42693940..42698488-chr15:42698720..42703314,5	K562	blood:

Variant related genes	Relation type
CAPN3	TF binding region
ENSG00000092529	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187054121	chr15:42701570-42701571	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563893708	chr15:42701576-42701577	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371168219	chr15:42701600-42701601	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192335718	chr15:42701601-42701602	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369987968	chr15:42701603-42701604	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544692239	chr15:42701610-42701611	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs8028539	chr15:42701620-42701621	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530427751	chr15:42701634-42701635	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs3115883	chr15:42701688-42701689	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs183243429	chr15:42701689-42701690	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530302812	chr15:42701731-42701732	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547200848	chr15:42701752-42701753	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371391945	chr15:42701753-42701754	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28364533	chr15:42701760-42701761	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs202159677	chr15:42701765-42701766	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs566936526	chr15:42701784-42701785	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546463381	chr15:42701785-42701786	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188641375	chr15:42701803-42701804	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552703359	chr15:42701892-42701893	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42675200-42702800	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:42678600-42706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42678800-42702800	Weak transcription	NHLF	lung
4	chr15:42679000-42706800	Weak transcription	Right Atrium	heart
5	chr15:42683800-42704600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:42689000-42712400	Weak transcription	Fetal Brain Male	brain
7	chr15:42689400-42703200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:42689800-42706600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:42690800-42702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:42691000-42703000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:42692400-42702400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:42692600-42702400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:42692600-42702400	Weak transcription	Aorta	Aorta
14	chr15:42692600-42708400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr15:42692800-42702800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:42693600-42703000	Weak transcription	Brain Germinal Matrix	brain
17	chr15:42694000-42703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:42694200-42702400	Weak transcription	Placenta	Placenta
19	chr15:42694200-42704000	Weak transcription	Small Intestine	intestine
20	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:42694800-42702200	Weak transcription	Thymus	Thymus
22	chr15:42694800-42702600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:42694800-42703000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:42694800-42706800	Weak transcription	GM12878-XiMat	blood
25	chr15:42694800-42708400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:42695000-42702000	Weak transcription	Primary T cells from cord blood	blood
27	chr15:42695000-42702200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr15:42695000-42702600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:42695000-42703000	Weak transcription	Colonic Mucosa	Colon
30	chr15:42695000-42703000	Weak transcription	HSMM	muscle
31	chr15:42695000-42703200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:42695000-42704000	Weak transcription	HUVEC	blood vessel
33	chr15:42695000-42716000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:42695200-42702600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:42695200-42702800	Weak transcription	Left Ventricle	heart
36	chr15:42695400-42702400	Weak transcription	Gastric	stomach
37	chr15:42695400-42702600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:42695400-42703000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:42695400-42703200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr15:42695400-42706200	Weak transcription	NH-A	brain
41	chr15:42695800-42702600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:42696000-42702200	Weak transcription	Esophagus	oesophagus
43	chr15:42696200-42703000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr15:42696400-42702200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:42696600-42702200	Weak transcription	Ovary	ovary
46	chr15:42696600-42702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:42696600-42703000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr15:42696800-42702000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:42697000-42702200	Weak transcription	Right Ventricle	heart
50	chr15:42697000-42702600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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