Variant report

Variant	esv3330312
Chromosome Location	chr4:7837114-7837707
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	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:
2	chr4:7832506..7835446-chr4:7836236..7839914,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551346594	chr4:7837120-7837121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536724702	chr4:7837167-7837168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554984668	chr4:7837171-7837172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71601882	chr4:7837182-7837183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576327854	chr4:7837183-7837184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112346657	chr4:7837202-7837203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375350041	chr4:7837218-7837219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113681084	chr4:7837224-7837225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368246336	chr4:7837229-7837230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111894747	chr4:7837244-7837245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546423193	chr4:7837266-7837267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112977781	chr4:7837276-7837277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113867539	chr4:7837286-7837287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28575916	chr4:7837308-7837309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28532833	chr4:7837315-7837316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113270441	chr4:7837318-7837319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28540486	chr4:7837319-7837320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111850740	chr4:7837328-7837329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28528772	chr4:7837362-7837363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28580539	chr4:7837363-7837364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111424914	chr4:7837370-7837371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372124806	chr4:7837392-7837393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376726920	chr4:7837444-7837445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28372478	chr4:7837476-7837477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113068603	chr4:7837500-7837501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544096494	chr4:7837519-7837520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371684500	chr4:7837523-7837524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375004801	chr4:7837528-7837529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565396352	chr4:7837548-7837549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369016379	chr4:7837550-7837551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113657735	chr4:7837567-7837568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112788073	chr4:7837571-7837572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549283642	chr4:7837596-7837597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4259063	chr4:7837602-7837603	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144938487	chr4:7837620-7837621	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201333749	chr4:7837629-7837630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34082619	chr4:7837668-7837669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147922034	chr4:7837674-7837675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559498427	chr4:7837681-7837682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
3	chr4:7825600-7852200	Weak transcription	Gastric	stomach
4	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
6	chr4:7826600-7842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:7830400-7844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
9	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7830600-7842800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:7830600-7842800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:7830600-7843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:7830600-7844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7830600-7844200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:7830600-7844600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:7830600-7845200	Weak transcription	Colonic Mucosa	Colon
17	chr4:7830600-7845800	Weak transcription	Brain Anterior Caudate	brain
18	chr4:7830600-7846400	Weak transcription	Brain Substantia Nigra	brain
19	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:7830800-7837800	Weak transcription	Placenta	Placenta
25	chr4:7830800-7838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:7830800-7839000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:7830800-7842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:7830800-7842800	Weak transcription	Esophagus	oesophagus
29	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:7831000-7839000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:7831000-7839200	Weak transcription	Fetal Brain Female	brain
32	chr4:7831600-7842800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:7831600-7845800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:7832200-7839200	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:7832200-7845600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:7832200-7845800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
38	chr4:7832600-7838000	Weak transcription	Lung	lung
39	chr4:7832600-7845600	Weak transcription	Small Intestine	intestine
40	chr4:7833000-7845600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:7833600-7844200	Weak transcription	Left Ventricle	heart
42	chr4:7833600-7845600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:7833800-7838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:7833800-7839000	Weak transcription	Right Atrium	heart
45	chr4:7833800-7844200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:7833800-7845600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr4:7833800-7855200	Weak transcription	Spleen	Spleen
48	chr4:7834000-7838000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:7834000-7838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:7834000-7839200	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links