Variant report

Variant	esv3345791
Chromosome Location	chr4:148590284-148590859
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	chr4:148588205..148590882-chr4:148591856..148596771,4	K562	blood:
2	chr4:148588664..148590539-chr4:148603182..148605962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164169	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187797688	chr4:148590311-148590312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571677546	chr4:148590315-148590316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372803665	chr4:148590322-148590323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569522250	chr4:148590355-148590356	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554581152	chr4:148590360-148590361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574425233	chr4:148590376-148590377	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373287213	chr4:148590387-148590388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76258152	chr4:148590388-148590389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371427599	chr4:148590396-148590397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375957274	chr4:148590398-148590399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192422138	chr4:148590408-148590409	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577123154	chr4:148590437-148590438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546074622	chr4:148590446-148590447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559706879	chr4:148590452-148590453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9998065	chr4:148590474-148590475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113500779	chr4:148590491-148590492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547796280	chr4:148590524-148590525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112552539	chr4:148590529-148590530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201076565	chr4:148590577-148590578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540712755	chr4:148590627-148590628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36034569	chr4:148590648-148590649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116669955	chr4:148590656-148590657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550258386	chr4:148590672-148590673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570102668	chr4:148590678-148590679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538868298	chr4:148590691-148590692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2718455	chr4:148590696-148590697	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566016583	chr4:148590711-148590712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140988609	chr4:148590721-148590722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184149416	chr4:148590735-148590736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35732599	chr4:148590741-148590742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552634329	chr4:148590832-148590833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74850430	chr4:148590858-148590859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77990608	chr4:148590859-148590860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Oral squamous cell carcinoma	17134496	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148548400-148599800	Weak transcription	Gastric	stomach
2	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
3	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
5	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:148556400-148599600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:148556600-148595200	Weak transcription	NHLF	lung
9	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:148557600-148594000	Weak transcription	NHEK	skin
11	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:148558200-148603800	Weak transcription	A549	lung
13	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
14	chr4:148559400-148599200	Weak transcription	HMEC	breast
15	chr4:148561200-148596200	Weak transcription	NHDF-Ad	bronchial
16	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart
18	chr4:148563600-148604400	Weak transcription	Pancreas	Pancrea
19	chr4:148563800-148599800	Weak transcription	Spleen	Spleen
20	chr4:148565000-148602200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:148568400-148603800	Weak transcription	Fetal Kidney	kidney
22	chr4:148568800-148600400	Weak transcription	Psoas Muscle	Psoas
23	chr4:148569400-148604000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:148570200-148599400	Weak transcription	K562	blood
25	chr4:148570400-148595800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:148570400-148604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:148571600-148603800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:148574600-148596800	Strong transcription	Primary T cells from cord blood	blood
29	chr4:148575600-148599800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:148575600-148604000	Weak transcription	Brain Substantia Nigra	brain
31	chr4:148575800-148599600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:148576400-148603800	Weak transcription	Small Intestine	intestine
33	chr4:148577000-148604400	Weak transcription	Aorta	Aorta
34	chr4:148577200-148595800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:148577200-148604000	Weak transcription	Colonic Mucosa	Colon
36	chr4:148577400-148604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:148577600-148590800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:148577600-148599200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:148577600-148599800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:148577600-148600200	Weak transcription	Lung	lung
41	chr4:148577600-148603800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:148577600-148603800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:148577600-148604200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:148579400-148599600	Weak transcription	HSMMtube	muscle
45	chr4:148579600-148603800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:148579600-148603800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:148580000-148603800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:148580000-148603800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:148580800-148593600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:148581200-148599600	Weak transcription	HepG2	liver

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