Variant report

Variant	nsv436429
Chromosome Location	chr4:27096917-27103731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:27098348..27100200-chr4:27101812..27104564,2	MCF-7	breast:
2	chr4:27101473..27103133-chr4:27171818..27174588,2	MCF-7	breast:
3	chr4:27103222..27105032-chr4:27162625..27164516,2	MCF-7	breast:
4	chr4:27052031..27054085-chr4:27099208..27101955,2	MCF-7	breast:
5	chr4:27097749..27098567-chr4:27320302..27321059,2	MCF-7	breast:
6	chr4:27093420..27095634-chr4:27097960..27100071,2	K562	blood:
7	chr4:27098348..27100200-chr4:27101812..27104564,2	MCF-7	breast:
8	chr4:27098137..27101120-chr4:27101208..27104613,3	MCF-7	breast:
9	chr4:27052472..27054140-chr4:27095815..27098654,2	MCF-7	breast:
10	chr4:27098137..27101120-chr4:27101208..27104613,3	MCF-7	breast:

No data

Extended variants
information (count: 257 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182462743	chr4:27096927-27096928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538337317	chr4:27096950-27096951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145594551	chr4:27096961-27096962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568759447	chr4:27096964-27096965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547667443	chr4:27096972-27096973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567633722	chr4:27097020-27097021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555263252	chr4:27097053-27097054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575091291	chr4:27097065-27097066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540802021	chr4:27097089-27097090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554323878	chr4:27097090-27097091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12503097	chr4:27097098-27097099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545960089	chr4:27097105-27097106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562940535	chr4:27097112-27097113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73251799	chr4:27097140-27097141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147611061	chr4:27097149-27097150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142464637	chr4:27097150-27097151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2075095	chr4:27097151-27097152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546422804	chr4:27097158-27097159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2075094	chr4:27097190-27097191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146495809	chr4:27097231-27097232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551978989	chr4:27097233-27097234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568846849	chr4:27097247-27097248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148882245	chr4:27097306-27097307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112756074	chr4:27097314-27097315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538347426	chr4:27097322-27097323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558668177	chr4:27097324-27097325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568736385	chr4:27097330-27097331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534481832	chr4:27097337-27097338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554436360	chr4:27097407-27097408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374967272	chr4:27097522-27097523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138028505	chr4:27097558-27097559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539930288	chr4:27097561-27097562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556335806	chr4:27097572-27097573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187154410	chr4:27097621-27097622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541783826	chr4:27097644-27097645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148302823	chr4:27097649-27097650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529052231	chr4:27097652-27097653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115615187	chr4:27097655-27097656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2075093	chr4:27097696-27097697	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs374430770	chr4:27097777-27097778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532169953	chr4:27097786-27097787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140424130	chr4:27097823-27097824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79490567	chr4:27097858-27097859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192285525	chr4:27097902-27097903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548241709	chr4:27097910-27097911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568040961	chr4:27097951-27097952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183042487	chr4:27098009-27098010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548068831	chr4:27098036-27098037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541263924	chr4:27098039-27098040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150483753	chr4:27098061-27098062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27091000-27097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:27091000-27104200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:27092000-27100800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:27093200-27097000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:27095000-27097800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:27095000-27102800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:27095200-27097000	Weak transcription	Lung	lung
8	chr4:27095800-27098000	Enhancers	Pancreas	Pancrea
9	chr4:27096000-27097200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:27096000-27097200	Enhancers	Gastric	stomach
11	chr4:27096000-27099400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:27096200-27099400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:27096400-27097400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:27096400-27098000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:27096400-27099600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:27096400-27100000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:27096600-27097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:27096600-27099600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:27096800-27097000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:27096800-27097400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:27096800-27098000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:27096800-27098400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:27097000-27097400	Enhancers	Lung	lung
24	chr4:27097000-27097600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:27097000-27099800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:27097200-27097400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:27097200-27102400	Weak transcription	Gastric	stomach
28	chr4:27097400-27097800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:27097400-27098400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:27097400-27099200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:27097400-27099600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:27097400-27102000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:27097600-27099400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:27097800-27099600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:27097800-27102400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:27098000-27098200	Enhancers	Fetal Muscle Leg	muscle
37	chr4:27098000-27099200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:27098000-27102400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:27098400-27098600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:27098400-27098800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:27098600-27098800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:27098600-27098800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:27098800-27099600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:27098800-27101800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:27099200-27102400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:27099200-27103000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:27099400-27103200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:27099600-27102200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:27099600-27102800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:27099800-27102400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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