Variant report

Variant	esv3430427
Chromosome Location	chr5:179723808-179723932
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	chr5:179723920-179724070	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr5:179723900-179724050	GM12873	blood:	n/a	n/a
3	CTCF	chr5:179723920-179724070	GM12865	blood:	n/a	n/a
4	CTCF	chr5:179723900-179724050	HEK293	kidney:	n/a	n/a
5	CTCF	chr5:179723900-179724050	GM12868	blood:	n/a	n/a
6	CTCF	chr5:179723899-179724125	IMR90	lung:	n/a	n/a
7	CTCF	chr5:179723880-179724030	GM12873	blood:	n/a	n/a
8	ELF1	chr5:179723632-179724094	K562	blood:	n/a	chr5:179723876-179723889 chr5:179723837-179723850
9	GABPA	chr5:179723787-179724062	K562	blood:	n/a	n/a
10	GABPA	chr5:179723786-179724117	K562	blood:	n/a	n/a
11	GABPA	chr5:179723623-179724156	MCF-7	breast:	n/a	n/a
12	MAZ	chr5:179723902-179723912	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:179723668-179723966	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:179723506-179724168	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:179723704-179724032	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179723581..179725108-chr5:179754464..179757151,2	MCF-7	breast:
2	chr5:179716629..179721643-chr5:179722540..179727897,10	K562	blood:
3	chr5:179718669..179721180-chr5:179723191..179725367,4	K562	blood:

Variant related genes	Relation type
MAPK9	TF binding region
ENSG00000050748	chromatin interactions
ENSG00000248367	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57424772	chr5:179723813-179723814	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs200972720	chr5:179723822-179723823	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs72176454	chr5:179723823-179723824	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs546044831	chr5:179723830-179723831	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs200178814	chr5:179723831-179723832	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs60372633	chr5:179723832-179723833	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576345052	chr5:179723843-179723844	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs146504779	chr5:179723855-179723856	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs188153685	chr5:179723856-179723857	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs58492909	chr5:179723857-179723858	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs57503045	chr5:179723859-179723860	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs58284798	chr5:179723861-179723862	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs57033779	chr5:179723863-179723864	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs60133099	chr5:179723865-179723866	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs61444635	chr5:179723867-179723868	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs60690988	chr5:179723881-179723882	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59850270	chr5:179723891-179723892	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs56818593	chr5:179723902-179723903	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs112166694	chr5:179723922-179723923	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs150885700	chr5:179723924-179723925	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs10659989	chr5:179723925-179723926	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs58614021	chr5:179723927-179723928	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs199978484	chr5:179723932-179723933	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720000-179727400	Weak transcription	Ovary	ovary
2	chr5:179720600-179724800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:179720600-179725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:179720600-179726800	Weak transcription	Osteobl	bone
5	chr5:179720600-179727200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:179720600-179727200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:179720600-179727200	Weak transcription	HSMM	muscle
8	chr5:179720600-179727400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:179720600-179727400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:179720600-179727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:179720600-179727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:179720600-179727600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:179720600-179727600	Weak transcription	NH-A	brain
14	chr5:179720600-179727800	Weak transcription	Aorta	Aorta
15	chr5:179720600-179727800	Weak transcription	Lung	lung
16	chr5:179720600-179728200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:179720600-179729600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:179720600-179730400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:179720600-179731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:179720600-179739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:179720600-179742800	Weak transcription	Right Ventricle	heart
22	chr5:179720600-179743200	Weak transcription	Fetal Lung	lung
23	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
24	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:179720800-179724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:179720800-179727400	Weak transcription	Fetal Brain Female	brain
27	chr5:179720800-179727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:179720800-179728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:179720800-179730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:179720800-179743600	Weak transcription	Right Atrium	heart
31	chr5:179720800-179747000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:179721000-179724600	Weak transcription	Hela-S3	cervix
33	chr5:179721000-179726800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:179721000-179727000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:179721000-179727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:179721000-179727200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:179721000-179727400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:179721000-179727600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:179721000-179727800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:179721000-179727800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:179721000-179728000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:179721000-179728000	Weak transcription	Brain Anterior Caudate	brain
43	chr5:179721000-179728000	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:179721000-179729400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:179721000-179730200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:179721000-179730400	Weak transcription	Adipose Nuclei	Adipose
47	chr5:179721000-179733600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:179721000-179740800	Weak transcription	Esophagus	oesophagus
49	chr5:179721000-179741000	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:179721000-179741200	Weak transcription	Fetal Brain Male	brain

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