Variant report

Variant	esv3435642
Chromosome Location	chr4:48427217-48427769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48426298..48428029-chr4:48428848..48431056,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571534768	chr4:48427217-48427218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2291474	chr4:48427260-48427261	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs17655832	chr4:48427290-48427291	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138323021	chr4:48427342-48427343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182377063	chr4:48427375-48427376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77447731	chr4:48427380-48427381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556799103	chr4:48427391-48427392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574779245	chr4:48427413-48427414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542202920	chr4:48427431-48427432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185655709	chr4:48427441-48427442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572531026	chr4:48427442-48427443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78369157	chr4:48427459-48427460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189383236	chr4:48427460-48427461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564245621	chr4:48427469-48427470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531519032	chr4:48427487-48427488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569076567	chr4:48427498-48427499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377673369	chr4:48427503-48427504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550140437	chr4:48427539-48427540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180929445	chr4:48427591-48427592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112197563	chr4:48427622-48427623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78085384	chr4:48427629-48427630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185590853	chr4:48427691-48427692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1055720	chr4:48427719-48427720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs551043287	chr4:48427721-48427722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570742528	chr4:48427755-48427756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	20952505	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
4	chr4:48400000-48431000	Weak transcription	Brain Angular Gyrus	brain
5	chr4:48406200-48433200	Weak transcription	NHEK	skin
6	chr4:48413200-48430000	Weak transcription	Aorta	Aorta
7	chr4:48413200-48431800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:48413400-48431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:48420800-48427600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:48421000-48428400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:48421800-48428000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:48421800-48429400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:48422600-48431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:48422600-48432000	Weak transcription	Psoas Muscle	Psoas
15	chr4:48422600-48433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:48422600-48433600	Weak transcription	Esophagus	oesophagus
17	chr4:48422600-48434400	Weak transcription	Brain Germinal Matrix	brain
18	chr4:48423200-48433200	Weak transcription	Gastric	stomach
19	chr4:48423400-48438200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:48423600-48428000	Strong transcription	HSMM	muscle
21	chr4:48423600-48433200	Weak transcription	Pancreas	Pancrea
22	chr4:48424400-48430200	Weak transcription	Fetal Stomach	stomach
23	chr4:48424400-48432200	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:48424400-48432400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:48424600-48432000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:48424800-48430400	Weak transcription	Colonic Mucosa	Colon
27	chr4:48425000-48429000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:48425000-48431000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:48425000-48431600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:48425000-48431800	Weak transcription	GM12878-XiMat	blood
31	chr4:48425000-48433200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:48425200-48427400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:48425200-48427600	Weak transcription	Right Ventricle	heart
34	chr4:48425200-48429200	Weak transcription	Fetal Brain Female	brain
35	chr4:48425200-48429200	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:48425200-48430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:48425200-48431000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:48425200-48432000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:48425200-48432600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:48425200-48433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:48425200-48433200	Weak transcription	HUVEC	blood vessel
42	chr4:48425200-48433800	Weak transcription	Stomach Mucosa	stomach
43	chr4:48425200-48441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:48425400-48429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:48425400-48431000	Weak transcription	Fetal Kidney	kidney
46	chr4:48425400-48433200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:48425400-48438400	Weak transcription	HSMMtube	muscle
48	chr4:48425600-48431800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:48425600-48432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:48425800-48428600	Weak transcription	Primary T cells fromperipheralblood	blood

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