Variant report

Variant	esv16599
Chromosome Location	chr4:7919890-7920820
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	chr4:7919498..7922242-chr4:7928069..7929802,2	K562	blood:
2	chr4:7913753..7915419-chr4:7919599..7921984,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7694106	chr4:7919894-7919895	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200594029	chr4:7919896-7919897	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569644837	chr4:7919898-7919899	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4696780	chr4:7919903-7919904	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372572633	chr4:7919906-7919907	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs33946154	chr4:7919939-7919940	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78740203	chr4:7919944-7919945	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67046430	chr4:7919948-7919949	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75740822	chr4:7919954-7919955	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112827624	chr4:7920000-7920001	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564880733	chr4:7920018-7920019	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534818198	chr4:7920058-7920059	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555768272	chr4:7920073-7920074	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368596670	chr4:7920086-7920087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552708192	chr4:7920088-7920089	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113869828	chr4:7920118-7920119	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62290577	chr4:7920128-7920129	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535527709	chr4:7920156-7920157	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557013437	chr4:7920169-7920170	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575628370	chr4:7920170-7920171	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112551520	chr4:7920199-7920200	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112494853	chr4:7920209-7920210	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545868213	chr4:7920226-7920227	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71600562	chr4:7920267-7920268	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111354895	chr4:7920268-7920269	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12509838	chr4:7920269-7920270	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs540840826	chr4:7920296-7920297	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113105431	chr4:7920303-7920304	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562232101	chr4:7920359-7920360	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529841017	chr4:7920363-7920364	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112572435	chr4:7920367-7920368	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376430406	chr4:7920370-7920371	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541964729	chr4:7920403-7920404	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563198692	chr4:7920434-7920435	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530534282	chr4:7920451-7920452	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12507184	chr4:7920462-7920463	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111941283	chr4:7920476-7920477	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11731131	chr4:7920491-7920492	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112193865	chr4:7920494-7920495	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528355232	chr4:7920510-7920511	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545118195	chr4:7920531-7920532	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185983301	chr4:7920532-7920533	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112139902	chr4:7920536-7920537	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546418821	chr4:7920545-7920546	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567935826	chr4:7920546-7920547	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535237915	chr4:7920552-7920553	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61579833	chr4:7920559-7920560	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60995648	chr4:7920561-7920562	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550669493	chr4:7920567-7920568	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60755987	chr4:7920572-7920573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
3	chr4:7909200-7925400	Weak transcription	Hela-S3	cervix
4	chr4:7912000-7931200	Weak transcription	Aorta	Aorta
5	chr4:7912800-7931200	Weak transcription	Gastric	stomach
6	chr4:7913000-7927600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:7913000-7930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:7913000-7931000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:7913200-7926400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:7913600-7926200	Weak transcription	Fetal Brain Female	brain
11	chr4:7913600-7927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:7913600-7930400	Weak transcription	NHEK	skin
13	chr4:7913800-7925600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:7914000-7926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:7914200-7925800	Weak transcription	HSMMtube	muscle
16	chr4:7914200-7930800	Weak transcription	Fetal Kidney	kidney
17	chr4:7914400-7925600	Weak transcription	HSMM	muscle
18	chr4:7915000-7926000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:7915000-7928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:7915000-7930400	Weak transcription	Fetal Lung	lung
21	chr4:7916200-7921200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:7917400-7920200	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:7917800-7920000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:7917800-7920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:7917800-7921200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:7918200-7921200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:7918400-7921000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:7918800-7921000	Enhancers	Esophagus	oesophagus
29	chr4:7918800-7930400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:7919000-7925600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:7919000-7925800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:7919000-7929000	Weak transcription	Brain Germinal Matrix	brain
33	chr4:7919200-7920200	Strong transcription	NHLF	lung
34	chr4:7919200-7930600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:7919400-7920000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:7919400-7920000	Enhancers	Pancreas	Pancrea
37	chr4:7919400-7920400	Strong transcription	Fetal Intestine Small	intestine
38	chr4:7919400-7920400	Enhancers	Right Atrium	heart
39	chr4:7919400-7926200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:7919600-7920000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:7919600-7920000	Enhancers	Adipose Nuclei	Adipose
42	chr4:7919600-7920000	Enhancers	HMEC	breast
43	chr4:7919600-7920000	Strong transcription	Osteobl	bone
44	chr4:7919600-7920200	Genic enhancers	HUVEC	blood vessel
45	chr4:7919600-7920600	Enhancers	Lung	lung
46	chr4:7919600-7921200	Genic enhancers	A549	lung
47	chr4:7919600-7921600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:7919600-7925800	Weak transcription	Fetal Heart	heart
49	chr4:7919600-7930800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:7919800-7920000	Enhancers	Left Ventricle	heart

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