Variant report

Variant	esv3327952
Chromosome Location	chr4:173591786-173805861
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:30)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:173756774..173758571-chr4:173760264..173762795,2	K562	blood:
2	chr4:173623488..173624406-chr7:12420850..12421512,2	MCF-7	breast:
3	chr4:173787262..173790044-chr4:173794520..173796071,2	MCF-7	breast:
4	chr4:173772777..173774432-chr4:173778610..173781377,2	MCF-7	breast:
5	chr4:173634834..173636568-chr4:173638119..173640340,2	K562	blood:
6	chr4:173781624..173784619-chr4:173786972..173788996,2	K562	blood:
7	chr4:173787262..173790044-chr4:173794520..173796071,2	MCF-7	breast:
8	chr4:173702658..173704418-chr4:173706596..173708903,2	K562	blood:
9	chr4:173771209..173772763-chr4:173784527..173786166,2	K562	blood:
10	chr4:173751234..173752114-chr4:173786685..173787554,3	MCF-7	breast:
11	chr4:173702658..173704418-chr4:173706596..173708903,2	K562	blood:
12	chr4:173771209..173772763-chr4:173784527..173786166,2	K562	blood:
13	chr4:173750700..173753059-chr4:173755917..173757526,2	K562	blood:
14	chr4:173756774..173758571-chr4:173760264..173762795,2	K562	blood:
15	chr4:173609516..173610288-chr4:173751358..173752025,2	MCF-7	breast:
16	chr4:173751234..173752114-chr4:173786685..173787554,3	MCF-7	breast:
17	chr4:173772490..173774977-chr4:173778723..173780805,2	MCF-7	breast:
18	chr4:173792673..173795160-chr4:173933274..173935636,2	MCF-7	breast:
19	chr4:173791475..173792294-chr4:174130337..174130842,2	MCF-7	breast:
20	chr4:173777187..173778088-chr4:173786612..173787411,2	MCF-7	breast:
21	chr4:173609516..173610288-chr4:173751358..173752025,2	MCF-7	breast:
22	chr4:173772777..173774432-chr4:173778610..173781377,2	MCF-7	breast:
23	chr4:173772490..173774977-chr4:173778723..173780805,2	MCF-7	breast:
24	chr4:173786122..173788666-chr4:173791027..173793744,2	K562	blood:
25	chr4:173777187..173778088-chr4:173786612..173787411,2	MCF-7	breast:
26	chr4:173786122..173788666-chr4:173791027..173793744,2	K562	blood:
27	chr11:62608628..62609409-chr4:173591389..173591909,2	HCT-116	colon:
28	chr4:173634834..173636568-chr4:173638119..173640340,2	K562	blood:
29	chr4:173750700..173753059-chr4:173755917..173757526,2	K562	blood:
30	chr4:173781624..173784619-chr4:173786972..173788996,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-12	chr4:173787663-173787917	ucscGeneNc_uc003isw_2
2	lnc-HMGB2-12	chr4:173789165-173789197	ucscGeneNc_uc003isw_2
3	lnc-HMGB2-13	chr4:173647975-173648029	NONHSAT099210
4	lnc-HMGB2-12	chr4:173792116-173792287	ucscGeneNc_uc003isw_2

No data

Variant related genes	Relation type
ENSG00000133316	chromatin interactions

Extended variants
information (count: 5335 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:5335 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181759255	chr4:173591801-173591802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529449189	chr4:173591818-173591819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2332545	chr4:173591896-173591897	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565809505	chr4:173591938-173591939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563656589	chr4:173591965-173591966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531231000	chr4:173592010-173592011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552210105	chr4:173592020-173592021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534809384	chr4:173592060-173592061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559268556	chr4:173592101-173592102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75843753	chr4:173592160-173592161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528103641	chr4:173592188-173592189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116689859	chr4:173592196-173592197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75185545	chr4:173592232-173592233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201135835	chr4:173592259-173592260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568206424	chr4:173592277-173592278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537088911	chr4:173592289-173592290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575394856	chr4:173592298-173592299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144267348	chr4:173592317-173592318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540094812	chr4:173592322-173592323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185308859	chr4:173592323-173592324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78811964	chr4:173592344-173592345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535506320	chr4:173592349-173592350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555433841	chr4:173592375-173592376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575370326	chr4:173592383-173592384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543233291	chr4:173592435-173592436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36084489	chr4:173592437-173592438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs542819288	chr4:173592439-173592440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576981740	chr4:173592468-173592469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576258802	chr4:173592474-173592475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374281258	chr4:173592502-173592503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546038831	chr4:173592526-173592527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12650695	chr4:173592554-173592555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189418373	chr4:173592565-173592566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528088755	chr4:173592574-173592575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111661405	chr4:173592575-173592576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561750099	chr4:173592616-173592617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79225539	chr4:173592667-173592668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181468939	chr4:173592721-173592722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185855946	chr4:173592722-173592723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560813989	chr4:173592735-173592736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555614545	chr4:173592737-173592738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533369762	chr4:173592750-173592751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547271571	chr4:173592822-173592823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566866539	chr4:173592939-173592940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528227761	chr4:173592961-173592962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34529267	chr4:173592994-173592995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189842861	chr4:173593040-173593041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555372562	chr4:173593046-173593047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572303115	chr4:173593127-173593128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568933210	chr4:173593177-173593178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173589000-173595400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:173595400-173595600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr4:173595600-173596400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:173596400-173596600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:173596400-173596800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:173596400-173598000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:173598000-173598400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:173598400-173599200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:173599200-173601600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:173600400-173602200	Enhancers	Adipose Nuclei	Adipose
11	chr4:173601600-173606000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:173602000-173602400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:173602000-173602400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:173627000-173629000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:173628600-173629000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:173628600-173630800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:173628600-173631000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:173628800-173629600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:173628800-173629800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:173629000-173629200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr4:173629000-173629800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:173629000-173630000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:173629200-173629600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:173629400-173629600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:173629400-173629800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:173629400-173630600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:173629400-173630800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:173629600-173630200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr4:173629600-173630800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:173629800-173630200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:173629800-173630200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:173629800-173630200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:173630000-173632600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:173630200-173630400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:173630200-173630600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:173630200-173630800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:173630200-173630800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:173630200-173631000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:173630400-173630800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:173630800-173631800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:173630800-173632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:173631200-173632400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:173632000-173632200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:173632200-173632400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:173642800-173643200	Enhancers	Brain Germinal Matrix	brain
46	chr4:173645000-173645400	ZNF genes & repeats	A549	lung
47	chr4:173645200-173649600	Enhancers	Fetal Intestine Small	intestine
48	chr4:173645400-173646400	Enhancers	A549	lung
49	chr4:173645600-173647000	Enhancers	Fetal Intestine Large	intestine
50	chr4:173646000-173646400	Enhancers	Placenta Amnion	Placenta Amnion

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