Variant report

Variant	esv3369290
Chromosome Location	chr4:87942878-87945026
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87938104..87941655-chr4:87942635..87944997,3	K562	blood:
2	chr4:87944684..87947564-chr4:87957551..87959550,2	MCF-7	breast:
3	chr4:87944509..87947205-chr4:87948010..87950101,2	K562	blood:
4	chr4:87924739..87931529-chr4:87944789..87955863,16	K562	blood:
5	chr4:87926504..87929332-chr4:87944740..87946591,3	MCF-7	breast:
6	chr4:87944954..87950016-chr4:87950159..87955839,10	K562	blood:
7	chr4:87940559..87943450-chr4:87945338..87947892,3	K562	blood:
8	chr4:87938807..87941655-chr4:87943072..87944997,3	K562	blood:
9	chr4:87854780..87857653-chr4:87942637..87946103,3	K562	blood:
10	chr4:87944178..87948145-chr4:87950244..87953545,6	K562	blood:
11	chr4:87926004..87930134-chr4:87942000..87950091,10	MCF-7	breast:
12	chr4:87866229..87868544-chr4:87942788..87945492,2	K562	blood:
13	chr4:87866229..87868745-chr4:87943992..87946336,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163633	chromatin interactions
ENSG00000172493	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547728300	chr4:87942943-87942944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566018919	chr4:87942957-87942958	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543851470	chr4:87942980-87942981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28667805	chr4:87942987-87942988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116102296	chr4:87942999-87943000	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569657173	chr4:87943076-87943077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537109094	chr4:87943077-87943078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56390363	chr4:87943087-87943088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549562392	chr4:87943092-87943093	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148224832	chr4:87943129-87943130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141189571	chr4:87943186-87943187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112823439	chr4:87943211-87943212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551500066	chr4:87943218-87943219	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574749808	chr4:87943261-87943262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571391805	chr4:87943264-87943265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543066076	chr4:87943297-87943298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182664718	chr4:87943311-87943312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576466320	chr4:87943346-87943347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs397880351	chr4:87943359-87943360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs68002317	chr4:87943380-87943381	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543934768	chr4:87943422-87943423	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537480110	chr4:87943484-87943485	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs28608199	chr4:87943568-87943569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77017971	chr4:87943586-87943587	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186873	chr4:87943622-87943623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs79619342	chr4:87943680-87943681	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs61643732	chr4:87943697-87943698	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190558828	chr4:87943699-87943700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs71983008	chr4:87943713-87943714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201166216	chr4:87943728-87943729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370662918	chr4:87943730-87943731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs199861115	chr4:87943732-87943733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368034406	chr4:87943734-87943735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs58303396	chr4:87943735-87943736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs60819102	chr4:87943736-87943737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376543279	chr4:87943737-87943738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs61590827	chr4:87943740-87943741	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs201253125	chr4:87943741-87943742	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs57462563	chr4:87943742-87943743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58498904	chr4:87943744-87943745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs13103799	chr4:87943756-87943757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs61002726	chr4:87943766-87943767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs202130553	chr4:87943767-87943768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs60824193	chr4:87943771-87943772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs57227310	chr4:87943782-87943783	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs3113491	chr4:87943787-87943788	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs35652281	chr4:87943790-87943791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs13103427	chr4:87943796-87943797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs13103957	chr4:87943804-87943805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs13103439	chr4:87943806-87943807	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87929400-87946200	Weak transcription	Esophagus	oesophagus
2	chr4:87930600-87946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:87930600-87950000	Weak transcription	Fetal Stomach	stomach
4	chr4:87931000-87946600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:87931200-87943400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:87935600-87950200	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:87935800-87945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:87935800-87951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:87936000-87950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:87936400-87945000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:87937000-87946200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:87937000-87950400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:87937000-87951800	Weak transcription	NHEK	skin
14	chr4:87937000-87952000	Weak transcription	HMEC	breast
15	chr4:87937400-87946200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:87937600-87949800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:87938000-87944800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:87938600-87943000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:87939000-87943400	Enhancers	Primary B cells from peripheral blood	blood
20	chr4:87939400-87944200	Weak transcription	Fetal Lung	lung
21	chr4:87939400-87950800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:87939600-87944200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:87939600-87944600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:87939600-87944800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:87939600-87945200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:87939600-87946200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:87939600-87946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:87939600-87946400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:87939600-87950000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:87939600-87950400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:87939800-87944800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:87939800-87944800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:87939800-87945200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:87939800-87945200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:87939800-87945200	Weak transcription	NHDF-Ad	bronchial
36	chr4:87939800-87945800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:87939800-87945800	Weak transcription	Lung	lung
38	chr4:87939800-87946200	Weak transcription	Pancreas	Pancrea
39	chr4:87940200-87943400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:87940400-87944200	Weak transcription	Liver	Liver
41	chr4:87940600-87944200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:87940600-87944600	Weak transcription	Brain Anterior Caudate	brain
43	chr4:87940600-87950600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:87940800-87943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:87940800-87944200	Weak transcription	Fetal Intestine Small	intestine
46	chr4:87940800-87944200	Weak transcription	Psoas Muscle	Psoas
47	chr4:87940800-87944600	Weak transcription	Adipose Nuclei	Adipose
48	chr4:87940800-87944800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:87940800-87944800	Weak transcription	Brain Substantia Nigra	brain
50	chr4:87940800-87944800	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links