Variant report

Variant	esv3498359
Chromosome Location	chr4:187613358-187615956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187607227..187608946-chr4:187613643..187615297,2	MCF-7	breast:
2	chr4:187613163..187617339-chr4:187617909..187621339,4	K562	blood:
3	chr4:187611565..187614162-chr4:187644181..187645742,2	K562	blood:
4	chr4:187611565..187613654-chr4:187643420..187645681,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559226096	chr4:187613386-187613387	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574876711	chr4:187613400-187613401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543832109	chr4:187613437-187613438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192067695	chr4:187613453-187613454	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144146876	chr4:187613458-187613459	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377327990	chr4:187613459-187613460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs60796512	chr4:187613465-187613466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150793072	chr4:187613470-187613471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540330214	chr4:187613473-187613474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576563502	chr4:187613477-187613478	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60509193	chr4:187613480-187613481	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369658893	chr4:187613481-187613482	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs59626897	chr4:187613484-187613485	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs180847784	chr4:187613489-187613490	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186131222	chr4:187613497-187613498	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189714406	chr4:187613498-187613499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545743249	chr4:187613499-187613500	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147800498	chr4:187613506-187613507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376868085	chr4:187613524-187613525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567754907	chr4:187613527-187613528	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368578851	chr4:187613538-187613539	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530098267	chr4:187613541-187613542	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547074447	chr4:187613556-187613557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566924469	chr4:187613560-187613561	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182392626	chr4:187613575-187613576	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563731058	chr4:187613598-187613599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558802824	chr4:187613612-187613613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569255903	chr4:187613621-187613622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575490975	chr4:187613624-187613625	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561790424	chr4:187613633-187613634	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs367962887	chr4:187613639-187613640	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369281336	chr4:187613656-187613657	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187071493	chr4:187613673-187613674	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546106735	chr4:187613683-187613684	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564514809	chr4:187613701-187613702	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539919543	chr4:187613712-187613713	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190384345	chr4:187613746-187613747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183541255	chr4:187613752-187613753	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188996179	chr4:187613831-187613832	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149090434	chr4:187613843-187613844	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562770255	chr4:187613846-187613847	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576448716	chr4:187613854-187613855	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193142104	chr4:187613869-187613870	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372601593	chr4:187613901-187613902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561220229	chr4:187613940-187613941	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141182644	chr4:187613947-187613948	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116266152	chr4:187613971-187613972	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560663294	chr4:187613981-187613982	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377590400	chr4:187613996-187613997	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs59035714	chr4:187613999-187614000	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
XY gonadal dysgenesis	20685758	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
2	chr4:187591200-187614400	Weak transcription	Ovary	ovary
3	chr4:187598200-187614400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:187604600-187618000	Weak transcription	Fetal Stomach	stomach
6	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:187605800-187614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187606200-187614000	Weak transcription	Right Ventricle	heart
9	chr4:187606400-187614400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:187606400-187614400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:187607000-187614400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:187607000-187614400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:187607400-187614000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:187607400-187614200	Weak transcription	Hela-S3	cervix
15	chr4:187607400-187618200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:187608000-187614400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:187608000-187619400	Weak transcription	Small Intestine	intestine
18	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:187608200-187622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:187608400-187614000	Weak transcription	Adipose Nuclei	Adipose
21	chr4:187608400-187614400	Weak transcription	HSMMtube	muscle
22	chr4:187608600-187614000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:187608600-187614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:187609200-187614600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:187609800-187614400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:187609800-187614400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:187609800-187614400	Weak transcription	Aorta	Aorta
28	chr4:187609800-187614400	Weak transcription	Lung	lung
29	chr4:187609800-187614400	Weak transcription	Right Atrium	heart
30	chr4:187610000-187613800	Weak transcription	Pancreas	Pancrea
31	chr4:187610000-187614000	Weak transcription	Left Ventricle	heart
32	chr4:187610000-187614400	Weak transcription	Gastric	stomach
33	chr4:187610200-187614000	Weak transcription	Stomach Mucosa	stomach
34	chr4:187610200-187621200	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:187610400-187614000	Weak transcription	HSMM	muscle
36	chr4:187610600-187614000	Strong transcription	HMEC	breast
37	chr4:187610800-187615000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:187610800-187620600	Weak transcription	Fetal Kidney	kidney
39	chr4:187611000-187614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:187611000-187614000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:187611000-187614000	Weak transcription	NHLF	lung
42	chr4:187611000-187614400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:187611000-187614400	Weak transcription	Esophagus	oesophagus
44	chr4:187611000-187614400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:187611000-187614400	Weak transcription	NH-A	brain
46	chr4:187611000-187614400	Weak transcription	NHDF-Ad	bronchial
47	chr4:187611000-187614800	Strong transcription	Fetal Intestine Small	intestine
48	chr4:187611000-187618200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:187611200-187614200	Strong transcription	NHEK	skin
50	chr4:187611200-187614400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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