Variant report

Variant	nsv4261
Chromosome Location	chr4:19194713-19239844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 953 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77200079	chr4:19194723-19194724	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527697448	chr4:19194750-19194751	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189408644	chr4:19194761-19194762	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112934432	chr4:19194787-19194788	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs531947634	chr4:19194821-19194822	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116602747	chr4:19194830-19194831	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568605714	chr4:19194880-19194881	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535994751	chr4:19194912-19194913	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140636981	chr4:19194913-19194914	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62297931	chr4:19194914-19194915	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576670503	chr4:19194959-19194960	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150480145	chr4:19194974-19194975	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545337971	chr4:19194976-19194977	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531079382	chr4:19194987-19194988	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181885483	chr4:19194988-19194989	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113670914	chr4:19195032-19195033	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186963022	chr4:19195045-19195046	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141352491	chr4:19195101-19195102	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145087605	chr4:19195104-19195105	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541590506	chr4:19195105-19195106	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571104855	chr4:19195122-19195123	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560237351	chr4:19195125-19195126	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191207214	chr4:19195168-19195169	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541676284	chr4:19195187-19195188	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs112275809	chr4:19195216-19195217	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369379430	chr4:19195265-19195266	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375638690	chr4:19195314-19195315	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181133809	chr4:19195320-19195321	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529041249	chr4:19195333-19195334	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185149911	chr4:19195354-19195355	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs35609604	chr4:19195504-19195505	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs138878790	chr4:19195550-19195551	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568693901	chr4:19195564-19195565	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529476330	chr4:19195604-19195605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142012551	chr4:19195608-19195609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189812997	chr4:19195676-19195677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562296611	chr4:19195678-19195679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566254567	chr4:19195714-19195715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533907582	chr4:19195728-19195729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558675288	chr4:19195766-19195767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570357568	chr4:19195778-19195779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144695346	chr4:19195807-19195808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182141329	chr4:19195814-19195815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574649849	chr4:19195821-19195822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374220729	chr4:19195822-19195823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78580515	chr4:19195867-19195868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148083486	chr4:19195874-19195875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141810351	chr4:19196038-19196039	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564556248	chr4:19196179-19196180	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576364763	chr4:19196201-19196202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19189600-19194800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:19190200-19195400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:19194000-19195600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:19194200-19195200	Weak transcription	Fetal Kidney	kidney
5	chr4:19194200-19195400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:19194400-19196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:19194600-19194800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:19194600-19195400	Active TSS	Fetal Intestine Large	intestine
9	chr4:19194800-19195400	Active TSS	Fetal Intestine Small	intestine
10	chr4:19194800-19196000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr4:19194800-19197600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:19195200-19195600	Enhancers	Fetal Kidney	kidney
13	chr4:19195400-19195600	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr4:19195400-19196400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:19195400-19196800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:19195400-19197400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:19195400-19198000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:19195400-19198000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:19195400-19198000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:19195400-19198000	Enhancers	Fetal Intestine Large	intestine
21	chr4:19195600-19196000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:19195600-19196400	Weak transcription	Fetal Kidney	kidney
23	chr4:19195600-19197000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:19195600-19197200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:19195600-19197400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:19195600-19198000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:19195600-19198000	Enhancers	Fetal Intestine Small	intestine
28	chr4:19195600-19198200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:19195800-19197200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:19195800-19198000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:19195800-19198000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:19196000-19196200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:19196000-19196200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr4:19196000-19197200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:19196000-19197800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:19196200-19196400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:19196200-19196400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:19196200-19196600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr4:19196400-19196600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:19196400-19196600	Enhancers	Fetal Kidney	kidney
41	chr4:19196400-19196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:19196400-19197400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:19196400-19198800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:19196600-19197000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr4:19196600-19198000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:19196600-19198600	Weak transcription	Fetal Kidney	kidney
47	chr4:19196800-19197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:19196800-19197400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:19197000-19197400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr4:19197000-19198800	Enhancers	Cortex derived primary cultured neurospheres	brain

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