Variant report

Variant	esv3418023
Chromosome Location	chr15:43813328-43813682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43807917..43810717-chr15:43812007..43814882,2	K562	blood:
2	chr15:43812804..43815788-chr15:43816222..43819010,3	K562	blood:

Variant related genes	Relation type
ENSG00000166963	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538801826	chr15:43813332-43813333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558909225	chr15:43813364-43813365	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs694985	chr15:43813387-43813388	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs149697853	chr15:43813407-43813408	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369524226	chr15:43813426-43813427	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574485106	chr15:43813460-43813461	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565810335	chr15:43813539-43813540	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533814163	chr15:43813553-43813554	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182590177	chr15:43813558-43813559	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145493066	chr15:43813572-43813573	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188889809	chr15:43813577-43813578	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562526442	chr15:43813587-43813588	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367853698	chr15:43813677-43813678	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	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
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43810400-43826200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:43810600-43826400	Weak transcription	Spleen	Spleen
3	chr15:43810800-43814200	Weak transcription	Gastric	stomach
4	chr15:43810800-43817600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:43810800-43824000	Weak transcription	Fetal Kidney	kidney
6	chr15:43810800-43826000	Weak transcription	Esophagus	oesophagus
7	chr15:43811000-43814200	Weak transcription	Lung	lung
8	chr15:43811000-43818600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:43811000-43828600	Weak transcription	Pancreas	Pancrea
10	chr15:43811200-43813600	Weak transcription	Adipose Nuclei	Adipose
11	chr15:43811200-43813600	Weak transcription	Fetal Intestine Small	intestine
12	chr15:43811200-43813800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:43811200-43820600	Weak transcription	Colonic Mucosa	Colon
14	chr15:43811200-43823600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:43811200-43826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:43811400-43829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:43811800-43813400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:43811800-43815800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:43812000-43813400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:43812000-43823200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr15:43812000-43844400	Weak transcription	Fetal Brain Male	brain
22	chr15:43812200-43813800	Genic enhancers	Dnd41	blood
23	chr15:43812200-43818000	Strong transcription	Fetal Intestine Large	intestine
24	chr15:43812200-43819000	Strong transcription	Osteobl	bone
25	chr15:43812200-43823200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:43812200-43823800	Strong transcription	NHLF	lung
27	chr15:43812400-43817800	ZNF genes & repeats	Aorta	Aorta
28	chr15:43812400-43818200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:43812400-43819000	ZNF genes & repeats	Fetal Stomach	stomach
30	chr15:43812400-43821400	Strong transcription	HSMMtube	muscle
31	chr15:43812400-43823200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:43812600-43813600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:43812600-43816400	Genic enhancers	Brain Angular Gyrus	brain
34	chr15:43812600-43816400	Genic enhancers	Brain Anterior Caudate	brain
35	chr15:43812600-43816400	Strong transcription	Thymus	Thymus
36	chr15:43812600-43817600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:43812600-43817800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:43812600-43818200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:43812600-43818200	Strong transcription	Left Ventricle	heart
40	chr15:43812600-43818800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:43812600-43819600	Strong transcription	HSMM	muscle
42	chr15:43812600-43819600	Strong transcription	NH-A	brain
43	chr15:43812600-43820000	Genic enhancers	Brain Hippocampus Middle	brain
44	chr15:43812600-43820400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:43812600-43823200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:43812600-43823200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:43812800-43813400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:43812800-43813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:43812800-43813800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:43812800-43814600	Strong transcription	K562	blood

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