Variant report

Variant	esv18969
Chromosome Location	chr4:1327540-1328325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1322023..1323613-chr4:1328056..1329615,2	K562	blood:
2	chr4:1324398..1326336-chr4:1326865..1328658,2	K562	blood:
3	chr4:1323033..1328941-chr4:1337055..1342245,8	MCF-7	breast:
4	chr4:1324398..1326619-chr4:1327158..1330979,3	K562	blood:

Variant related genes	Relation type
ENSG00000090316	chromatin interactions
ENSG00000163945	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 61 )

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	rs562678902	chr4:1327557-1327558	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551243101	chr4:1327558-1327559	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184712949	chr4:1327567-1327568	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188640533	chr4:1327571-1327572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545084564	chr4:1327636-1327637	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563483248	chr4:1327637-1327638	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571491486	chr4:1327654-1327655	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530811444	chr4:1327694-1327695	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546454850	chr4:1327705-1327706	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542567322	chr4:1327708-1327709	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561138530	chr4:1327709-1327710	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557060384	chr4:1327730-1327731	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377656052	chr4:1327751-1327752	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs62295186	chr4:1327768-1327769	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
15	rs530640651	chr4:1327774-1327775	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528355788	chr4:1327779-1327780	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546601756	chr4:1327783-1327784	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537291559	chr4:1327792-1327793	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533026543	chr4:1327793-1327794	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529114969	chr4:1327795-1327796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558481565	chr4:1327796-1327797	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537562150	chr4:1327807-1327808	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565459944	chr4:1327815-1327816	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186570373	chr4:1327828-1327829	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12506305	chr4:1327834-1327835	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112282000	chr4:1327843-1327844	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs180974857	chr4:1327845-1327846	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370112562	chr4:1327849-1327850	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187140946	chr4:1327854-1327855	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs191007964	chr4:1327866-1327867	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113747106	chr4:1327871-1327872	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540115990	chr4:1327872-1327873	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182884850	chr4:1327875-1327876	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183050554	chr4:1327877-1327878	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186036134	chr4:1327890-1327891	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532380994	chr4:1327892-1327893	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371796335	chr4:1327893-1327894	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113718814	chr4:1327894-1327895	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569016504	chr4:1327915-1327916	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138338009	chr4:1327926-1327927	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
41	rs147565322	chr4:1327931-1327932	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141927276	chr4:1327932-1327933	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568089975	chr4:1327937-1327938	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554507743	chr4:1327940-1327941	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs28497045	chr4:1327941-1327942	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
46	rs566360135	chr4:1327942-1327943	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs28561587	chr4:1327943-1327944	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200407980	chr4:1327947-1327948	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs11247993	chr4:1327952-1327953	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
50	rs534064139	chr4:1327956-1327957	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
3	chr4:1309200-1330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:1313600-1335600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:1314800-1328200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:1314800-1335200	Strong transcription	Dnd41	blood
7	chr4:1315000-1335600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:1315200-1335400	Strong transcription	Fetal Brain Female	brain
9	chr4:1315200-1335600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:1315200-1335600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:1315200-1335600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:1315400-1328400	Strong transcription	Adipose Nuclei	Adipose
13	chr4:1315400-1329400	Strong transcription	Colonic Mucosa	Colon
14	chr4:1315400-1331800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:1315400-1332200	Strong transcription	Fetal Intestine Small	intestine
16	chr4:1315400-1335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:1315400-1335400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr4:1315400-1335400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr4:1315600-1328200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:1315600-1335400	Strong transcription	Brain Germinal Matrix	brain
21	chr4:1315600-1335600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:1315800-1331800	Strong transcription	Fetal Intestine Large	intestine
23	chr4:1315800-1333400	Strong transcription	Fetal Stomach	stomach
24	chr4:1315800-1335200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:1315800-1335400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr4:1315800-1335600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:1315800-1335600	Strong transcription	Liver	Liver
28	chr4:1317200-1333400	Strong transcription	Pancreas	Pancrea
29	chr4:1317800-1328200	Weak transcription	A549	lung
30	chr4:1317800-1329000	Strong transcription	Lung	lung
31	chr4:1317800-1339600	Weak transcription	Right Atrium	heart
32	chr4:1318000-1328200	Weak transcription	Hela-S3	cervix
33	chr4:1318000-1328600	Weak transcription	NHDF-Ad	bronchial
34	chr4:1318200-1330200	Weak transcription	HUVEC	blood vessel
35	chr4:1318400-1328600	Weak transcription	Fetal Brain Male	brain
36	chr4:1318400-1328800	Weak transcription	Fetal Kidney	kidney
37	chr4:1319200-1330000	Strong transcription	NHLF	lung
38	chr4:1319400-1335600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:1319600-1330800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:1320400-1329200	Strong transcription	Left Ventricle	heart
41	chr4:1320600-1335600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:1321200-1330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:1321600-1328200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:1322000-1328400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:1322400-1328400	Weak transcription	Brain Angular Gyrus	brain
46	chr4:1322400-1328600	Weak transcription	NH-A	brain
47	chr4:1322400-1330200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:1323000-1330200	Weak transcription	Brain Substantia Nigra	brain
49	chr4:1323600-1329000	Strong transcription	Right Ventricle	heart
50	chr4:1323600-1331800	Weak transcription	Stomach Mucosa	stomach

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