Variant report

Variant	esv1797793
Chromosome Location	chr4:57786450-57793425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57775317..57777346-chr4:57791863..57794432,2	K562	blood:
2	chr4:57778640..57781071-chr4:57785641..57787696,2	K562	blood:
3	chr4:57774089..57775634-chr4:57791349..57793300,3	MCF-7	breast:
4	chr4:57785111..57787952-chr4:57797814..57799523,2	K562	blood:
5	chr4:57739739..57741859-chr4:57787716..57790599,2	MCF-7	breast:
6	chr4:57775317..57777914-chr4:57791258..57794432,4	K562	blood:
7	chr4:57772930..57780141-chr4:57782916..57788353,10	K562	blood:

Variant related genes	Relation type
ENSG00000084093	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1713985	chr4:57786450-57786451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs376520340	chr4:57786454-57786455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570390573	chr4:57786458-57786459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553226269	chr4:57786462-57786463	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138700833	chr4:57786513-57786514	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555747095	chr4:57786536-57786537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572307645	chr4:57786577-57786578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535119205	chr4:57786637-57786638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140279561	chr4:57786703-57786704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577704680	chr4:57786745-57786746	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143519032	chr4:57786771-57786772	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572537339	chr4:57786783-57786784	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11736192	chr4:57786797-57786798	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573615879	chr4:57786799-57786800	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35354515	chr4:57786899-57786900	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542519295	chr4:57786903-57786904	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35437996	chr4:57786915-57786916	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555108049	chr4:57786920-57786921	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13125082	chr4:57787000-57787001	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs180912234	chr4:57787009-57787010	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114829114	chr4:57787042-57787043	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373364865	chr4:57787054-57787055	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570227544	chr4:57787055-57787056	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555474764	chr4:57787070-57787071	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375776484	chr4:57787071-57787072	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573338692	chr4:57787073-57787074	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141629959	chr4:57787087-57787088	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10030913	chr4:57787109-57787110	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558112790	chr4:57787117-57787118	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562360595	chr4:57787172-57787173	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571430984	chr4:57787187-57787188	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116871278	chr4:57787192-57787193	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191659629	chr4:57787220-57787221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573455839	chr4:57787245-57787246	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542805367	chr4:57787289-57787290	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553033930	chr4:57787310-57787311	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138551777	chr4:57787329-57787330	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116638309	chr4:57787406-57787407	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564845108	chr4:57787466-57787467	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541195404	chr4:57787483-57787484	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112069288	chr4:57787484-57787485	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559557946	chr4:57787505-57787506	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544284236	chr4:57787513-57787514	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563873894	chr4:57787637-57787638	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186292132	chr4:57787638-57787639	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191119590	chr4:57787656-57787657	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566275935	chr4:57787668-57787669	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373803385	chr4:57787675-57787676	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528756721	chr4:57787692-57787693	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76863472	chr4:57787701-57787702	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57776400-57789400	Weak transcription	Right Ventricle	heart
2	chr4:57777000-57795800	Weak transcription	A549	lung
3	chr4:57777000-57796600	Weak transcription	Fetal Brain Female	brain
4	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:57777200-57793400	Weak transcription	HMEC	breast
6	chr4:57777200-57796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:57777200-57796600	Weak transcription	Aorta	Aorta
8	chr4:57777200-57796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:57777200-57797200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:57777600-57796000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:57777600-57796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:57777600-57796600	Weak transcription	Colonic Mucosa	Colon
13	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
14	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:57778000-57791800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:57778000-57796000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:57778000-57796000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:57778000-57796600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:57778000-57797000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:57778200-57796200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:57778200-57796800	Weak transcription	NHLF	lung
23	chr4:57778400-57788600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:57778400-57795400	Weak transcription	HSMMtube	muscle
25	chr4:57778400-57796000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:57778400-57800200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:57778400-57800200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:57778400-57801000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:57778800-57795800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:57779000-57804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:57779200-57799200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:57779800-57789600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:57779800-57796000	Weak transcription	Small Intestine	intestine
34	chr4:57779800-57797600	Weak transcription	Fetal Brain Male	brain
35	chr4:57779800-57799600	Weak transcription	Right Atrium	heart
36	chr4:57780200-57793000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:57780400-57800400	Strong transcription	Fetal Thymus	thymus
38	chr4:57780800-57795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:57781000-57791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:57781000-57796800	Weak transcription	Spleen	Spleen
42	chr4:57781000-57799600	Weak transcription	Psoas Muscle	Psoas
43	chr4:57781800-57801400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr4:57782200-57788000	Weak transcription	NHEK	skin
45	chr4:57782200-57790800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:57782400-57792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:57782400-57796000	Weak transcription	Hela-S3	cervix
48	chr4:57782800-57792600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:57782800-57796800	Weak transcription	Pancreas	Pancrea
50	chr4:57783000-57787400	Strong transcription	H1 Cell Line	embryonic stem cell

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