Variant report

Variant	esv2653084
Chromosome Location	chr4:1216868-1216868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
2	chr4:1215769..1218494-chr4:1233904..1236705,2	MCF-7	breast:
3	chr4:1209168..1212626-chr4:1216430..1218433,3	K562	blood:
4	chr4:1211126..1212834-chr4:1216389..1218243,2	K562	blood:
5	chr4:1215883..1221793-chr4:1233494..1238232,6	K562	blood:
6	chr4:1201225..1203014-chr4:1216163..1217887,2	MCF-7	breast:
7	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:

Variant related genes	Relation type
ENSG00000159674	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000159692	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3755949	chr4:1216868-1216869	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20393555	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1202800-1218000	Weak transcription	Fetal Brain Male	brain
2	chr4:1203200-1217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:1203800-1223000	Strong transcription	Osteobl	bone
4	chr4:1204000-1218000	Weak transcription	K562	blood
5	chr4:1204400-1227200	Strong transcription	Fetal Intestine Small	intestine
6	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:1204600-1220400	Strong transcription	Liver	Liver
8	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:1204800-1226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:1204800-1237000	Weak transcription	Psoas Muscle	Psoas
11	chr4:1205000-1226200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:1205200-1218000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:1205400-1226800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:1205800-1228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:1206000-1226800	Strong transcription	Fetal Brain Female	brain
16	chr4:1206400-1226800	Strong transcription	Brain Germinal Matrix	brain
17	chr4:1206600-1227600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:1207600-1218200	Weak transcription	Hela-S3	cervix
19	chr4:1208800-1228000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr4:1209000-1218000	Weak transcription	Stomach Mucosa	stomach
21	chr4:1209800-1218000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:1210600-1225200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:1210800-1217800	Weak transcription	Fetal Heart	heart
24	chr4:1210800-1218000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:1211000-1217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:1211200-1217800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:1211400-1219600	Weak transcription	Right Atrium	heart
28	chr4:1211400-1235400	Weak transcription	Small Intestine	intestine
29	chr4:1211600-1217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:1211600-1217200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:1211600-1217600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:1211600-1235400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:1211800-1217000	Weak transcription	Brain Angular Gyrus	brain
34	chr4:1211800-1217800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:1211800-1217800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:1212000-1217000	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:1212600-1225200	Strong transcription	Fetal Muscle Leg	muscle
38	chr4:1212600-1237000	Strong transcription	Dnd41	blood
39	chr4:1213200-1217600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:1213400-1217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:1213400-1218200	Genic enhancers	NHEK	skin
42	chr4:1213400-1218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:1213400-1219600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr4:1213600-1217800	Weak transcription	Fetal Kidney	kidney
45	chr4:1213600-1224200	Strong transcription	Placenta	Placenta
46	chr4:1213800-1217600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:1213800-1219000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:1213800-1221800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:1214000-1219200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:1214200-1217800	Strong transcription	Primary T cells fromperipheralblood	blood

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