Variant report

Variant	nsv997783
Chromosome Location	chr4:22223503-22338543
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:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:22287110..22290036-chr4:22291416..22294469,3	K562	blood:
2	chr14:26600846..26601469-chr4:22299814..22300678,2	MCF-7	breast:
3	chr4:22287110..22290036-chr4:22291416..22294469,3	K562	blood:
4	chr4:22238564..22239075-chr4:22358901..22359564,2	MCF-7	breast:
5	chr4:22306671..22307308-chr4:127827877..127828727,2	MCF-7	breast:
6	chr4:22219857..22222824-chr4:22225422..22227720,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR125-3	chr4:22331480-22331627	NONHSAT095753
2	lnc-PACRGL-5	chr4:22330939-22331953	ENSG00000250039.3
3	lnc-GPR125-3	chr4:22336664-22336790	NONHSAT095753
4	lnc-PACRGL-5	chr4:22330939-22331953	ENSG00000250039.2
5	lnc-GPR125-3	chr4:22328990-22329512	NONHSAT095753

No data

Extended variants
information (count: 1461 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1461 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535089455	chr4:22234618-22234619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554061852	chr4:22234626-22234627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143702582	chr4:22234652-22234653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544646326	chr4:22234686-22234687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539286800	chr4:22234722-22234723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532908092	chr4:22234751-22234752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557488056	chr4:22234752-22234753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576925402	chr4:22234760-22234761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148145028	chr4:22234793-22234794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568082900	chr4:22234816-22234817	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562828561	chr4:22234846-22234847	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35680025	chr4:22234877-22234878	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34862873	chr4:22234901-22234902	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541856672	chr4:22234902-22234903	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560883721	chr4:22234907-22234908	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527950110	chr4:22234949-22234950	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546423627	chr4:22234960-22234961	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535255216	chr4:22234971-22234972	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564642625	chr4:22234991-22234992	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs143964898	chr4:22235007-22235008	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549881515	chr4:22235071-22235072	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185457078	chr4:22235072-22235073	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373152542	chr4:22235134-22235135	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535404977	chr4:22235155-22235156	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190813463	chr4:22235169-22235170	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs146905722	chr4:22235171-22235172	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539299007	chr4:22235220-22235221	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557550952	chr4:22235226-22235227	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115475227	chr4:22235236-22235237	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs180817850	chr4:22235247-22235248	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556666569	chr4:22235271-22235272	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10938882	chr4:22235324-22235325	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542217575	chr4:22235332-22235333	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs185915659	chr4:22235357-22235358	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375527984	chr4:22235359-22235360	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs11931969	chr4:22235368-22235369	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139304305	chr4:22235407-22235408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143304549	chr4:22235412-22235413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531970784	chr4:22235433-22235434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371902362	chr4:22235438-22235439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561861584	chr4:22235450-22235451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541862222	chr4:22235463-22235464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556996926	chr4:22235465-22235466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528939459	chr4:22235469-22235470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11727280	chr4:22235474-22235475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189733695	chr4:22235499-22235500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533071342	chr4:22235509-22235510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551293236	chr4:22235525-22235526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112125816	chr4:22235553-22235554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537293550	chr4:22235572-22235573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
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
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22234600-22235200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:22234600-22236000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:22234800-22235400	Active TSS	Brain Substantia Nigra	brain
4	chr4:22235000-22235200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:22235000-22235200	Active TSS	Brain Hippocampus Middle	brain
6	chr4:22235000-22235400	Active TSS	Brain Anterior Caudate	brain
7	chr4:22235000-22236000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:22235200-22235400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:22235200-22235400	Enhancers	Brain Angular Gyrus	brain
10	chr4:22235200-22235400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr4:22235200-22239600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:22235400-22238800	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:22235400-22239200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:22235400-22239600	Weak transcription	Brain Angular Gyrus	brain
15	chr4:22235400-22239600	Weak transcription	Brain Substantia Nigra	brain
16	chr4:22236800-22238200	Enhancers	Fetal Brain Male	brain
17	chr4:22237000-22237600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:22237000-22237600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:22237000-22237800	Enhancers	Fetal Brain Female	brain
20	chr4:22237000-22238000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:22237000-22238000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:22237200-22238200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:22237400-22237800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:22237400-22237800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:22237600-22238000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:22237600-22239600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:22237800-22238000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:22237800-22238000	Enhancers	Brain Germinal Matrix	brain
29	chr4:22237800-22239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:22238200-22239600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:22238400-22239800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:22238800-22239000	Enhancers	Liver	Liver
33	chr4:22238800-22239000	Enhancers	Fetal Intestine Large	intestine
34	chr4:22238800-22239200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:22238800-22239200	Enhancers	Ovary	ovary
36	chr4:22238800-22239400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:22238800-22240000	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr4:22238800-22240400	Enhancers	Brain Hippocampus Middle	brain
39	chr4:22239000-22239400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr4:22239000-22239600	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr4:22239000-22239600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr4:22239000-22239600	Active TSS	Liver	Liver
43	chr4:22239000-22240200	Active TSS	Duodenum Mucosa	Duodenum
44	chr4:22239000-22240200	Active TSS	Fetal Intestine Small	intestine
45	chr4:22239000-22240400	Active TSS	Colonic Mucosa	Colon
46	chr4:22239000-22240800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:22239200-22239400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:22239200-22239600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:22239200-22239600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:22239200-22239800	Active TSS	Primary T helper cells fromperipheralblood	blood

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