Variant report

Variant	esv3402243
Chromosome Location	chr5:112929338-112929744
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	chr5:112923262..112928429-chr5:112929075..112932971,5	K562	blood:

Variant related genes	Relation type
ENSG00000047188	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367986446	chr5:112929368-112929369	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569417931	chr5:112929374-112929375	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576485080	chr5:112929392-112929393	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536710828	chr5:112929415-112929416	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147308016	chr5:112929458-112929459	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192633809	chr5:112929513-112929514	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77509780	chr5:112929597-112929598	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552978351	chr5:112929601-112929602	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574727805	chr5:112929624-112929625	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34398815	chr5:112929627-112929628	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534127808	chr5:112929630-112929631	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368331951	chr5:112929641-112929642	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372410257	chr5:112929642-112929643	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142017185	chr5:112929643-112929644	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9552	chr5:112929694-112929695	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs140936771	chr5:112929697-112929698	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552202313	chr5:112929701-112929702	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112899400-112929400	Weak transcription	HepG2	liver
5	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
6	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
10	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
12	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
13	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
17	chr5:112910800-112934600	Weak transcription	Gastric	stomach
18	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
19	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
20	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
21	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:112916400-112930400	Weak transcription	NHLF	lung
26	chr5:112916400-112933000	Weak transcription	Thymus	Thymus
27	chr5:112916400-112933400	Weak transcription	Aorta	Aorta
28	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
29	chr5:112917200-112942000	Weak transcription	K562	blood
30	chr5:112917400-112929600	Weak transcription	Fetal Brain Male	brain
31	chr5:112917400-112937600	Weak transcription	HSMMtube	muscle
32	chr5:112917800-112933400	Weak transcription	Brain Angular Gyrus	brain
33	chr5:112918000-112933600	Weak transcription	Hela-S3	cervix
34	chr5:112918000-112939000	Weak transcription	NHEK	skin
35	chr5:112920400-112939000	Weak transcription	HMEC	breast
36	chr5:112920600-112934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr5:112920600-112934800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:112920600-112936000	Weak transcription	Brain Anterior Caudate	brain
39	chr5:112920800-112930200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:112920800-112934000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:112920800-112938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:112920800-112942000	Weak transcription	Ovary	ovary
43	chr5:112922000-112933400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:112923600-112933600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:112924600-112930800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:112924800-112931800	Strong transcription	Dnd41	blood
47	chr5:112924800-112933000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:112925200-112930200	Strong transcription	Adipose Nuclei	Adipose
49	chr5:112925200-112931000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:112925200-112932400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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