Variant report

Variant	esv14957
Chromosome Location	chr4:1387978-1392638
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:1391809..1396481-chr4:1400263..1404304,5	K562	blood:
2	chr4:1391181..1394010-chr4:1399067..1401828,2	MCF-7	breast:
3	chr4:1385707..1387814-chr4:1390928..1394108,3	K562	blood:
4	chr4:1391126..1393483-chr4:1395042..1398028,2	MCF-7	breast:
5	chr4:1367559..1370361-chr4:1391933..1394578,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKX1-1-1	chr4:1388324-1388811	NONHSAT094711
2	lnc-NKX1-1-1	chr4:1389420-1389500	NONHSAT094711
3	lnc-NKX1-1-1	chr4:1389149-1389169	NONHSAT094711

No data

Variant related genes	Relation type
ENSG00000235608	chromatin interactions
ENSG00000163945	chromatin interactions

Extended variants
information (count: 520 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539735557	chr4:1387996-1387997	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147301004	chr4:1388002-1388003	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376830546	chr4:1388005-1388006	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376464406	chr4:1388037-1388038	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548802562	chr4:1388049-1388050	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567091548	chr4:1388060-1388061	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534435032	chr4:1388090-1388091	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116818578	chr4:1388095-1388096	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6599309	chr4:1388115-1388116	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs538296809	chr4:1388196-1388197	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556913731	chr4:1388197-1388198	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186545033	chr4:1388214-1388215	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573463712	chr4:1388221-1388222	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562283816	chr4:1388240-1388241	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191364045	chr4:1388281-1388282	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541517316	chr4:1388301-1388302	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74377230	chr4:1388324-1388325	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs559546288	chr4:1388337-1388338	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs372193501	chr4:1388338-1388339	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575561207	chr4:1388345-1388346	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs150947421	chr4:1388347-1388348	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs140908474	chr4:1388349-1388350	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs77782813	chr4:1388350-1388351	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs551529188	chr4:1388355-1388356	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs377708096	chr4:1388368-1388369	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs533172496	chr4:1388375-1388376	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs530731346	chr4:1388376-1388377	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs55884223	chr4:1388378-1388379	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs56109734	chr4:1388379-1388380	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs528233364	chr4:1388391-1388392	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs144588942	chr4:1388397-1388398	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs370096302	chr4:1388400-1388401	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs546764966	chr4:1388405-1388406	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571302290	chr4:1388407-1388408	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs528457959	chr4:1388410-1388411	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs78309237	chr4:1388413-1388414	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
37	rs373049641	chr4:1388414-1388415	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201642637	chr4:1388415-1388416	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs55848952	chr4:1388419-1388420	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs377406261	chr4:1388420-1388421	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs150278472	chr4:1388425-1388426	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs114966751	chr4:1388428-1388429	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs79298048	chr4:1388429-1388430	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
44	rs374966948	chr4:1388431-1388432	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs367925864	chr4:1388436-1388437	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs144787346	chr4:1388441-1388442	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs578053200	chr4:1388444-1388445	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs3210561	chr4:1388446-1388447	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs13111164	chr4:1388450-1388451	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs148105783	chr4:1388459-1388460	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1341800-1388800	Weak transcription	Small Intestine	intestine
2	chr4:1346000-1389200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:1360800-1389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:1368800-1389200	Weak transcription	NHDF-Ad	bronchial
5	chr4:1378400-1390400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:1378600-1389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:1380200-1388800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:1380400-1390200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:1380400-1391000	Weak transcription	Right Ventricle	heart
10	chr4:1380400-1391200	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:1380400-1391400	Weak transcription	HepG2	liver
12	chr4:1380600-1390200	Weak transcription	Colonic Mucosa	Colon
13	chr4:1381400-1388800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:1382200-1392200	Weak transcription	Psoas Muscle	Psoas
15	chr4:1382600-1389800	Weak transcription	HSMM	muscle
16	chr4:1382600-1390400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:1382800-1388200	Weak transcription	Fetal Brain Male	brain
18	chr4:1382800-1388600	Weak transcription	HSMMtube	muscle
19	chr4:1382800-1390000	Weak transcription	NHEK	skin
20	chr4:1382800-1390200	Weak transcription	Osteobl	bone
21	chr4:1382800-1391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:1384400-1391200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr4:1384800-1389600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:1385000-1388000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:1385000-1388600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:1385200-1388200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr4:1385200-1389600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr4:1385400-1388000	ZNF genes & repeats	Ovary	ovary
29	chr4:1385400-1388200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:1385400-1388200	Strong transcription	Rectal Smooth Muscle	rectum
31	chr4:1385400-1388600	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr4:1385600-1390000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:1385800-1389800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:1386000-1388000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr4:1386000-1388600	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr4:1386000-1391000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr4:1386200-1388800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:1386200-1389000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:1386200-1389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:1386200-1389400	ZNF genes & repeats	Esophagus	oesophagus
41	chr4:1386200-1389600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr4:1386200-1389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:1386200-1390600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:1386400-1388000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:1386400-1388000	ZNF genes & repeats	Aorta	Aorta
46	chr4:1386400-1388000	Strong transcription	Brain Substantia Nigra	brain
47	chr4:1386400-1389000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr4:1386400-1389600	Strong transcription	Brain Hippocampus Middle	brain
49	chr4:1386400-1389600	ZNF genes & repeats	Lung	lung
50	chr4:1386400-1391000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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