Variant report

Variant	esv1792225
Chromosome Location	chr4:74052028-74076417
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74056365..74058810-chr4:74121522..74124421,2	K562	blood:
2	chr4:74055545..74059425-chr4:74085647..74088678,3	K562	blood:
3	chr4:74052236..74053936-chr4:74063244..74066174,3	K562	blood:
4	chr4:74065387..74067340-chr4:74088285..74091069,2	K562	blood:
5	chr4:74072374..74074564-chr4:74074721..74076887,2	K562	blood:
6	chr4:74044682..74047650-chr4:74072993..74074617,2	K562	blood:
7	chr4:74054562..74057067-chr4:74057401..74060235,2	K562	blood:
8	chr4:74052443..74054817-chr4:74087360..74090205,2	K562	blood:
9	chr4:74049747..74053903-chr4:74055413..74060187,5	K562	blood:
10	chr4:74066592..74068413-chr4:74122719..74124463,3	K562	blood:
11	chr4:74052583..74054936-chr4:74121603..74124404,2	K562	blood:
12	chr4:74052236..74053936-chr4:74063244..74066174,3	K562	blood:
13	chr4:74030007..74032415-chr4:74070930..74073778,2	K562	blood:
14	chr4:74051359..74054338-chr4:74122904..74126621,3	K562	blood:
15	chr4:74064494..74066671-chr4:74079076..74081073,2	K562	blood:
16	chr4:74048549..74051354-chr4:74053215..74054751,2	K562	blood:
17	chr4:74069384..74072019-chr4:74086100..74088780,2	K562	blood:
18	chr4:74061445..74063140-chr4:74117099..74120021,2	K562	blood:
19	chr4:74052161..74054496-chr4:74124638..74126619,2	MCF-7	breast:
20	chr4:74068748..74071542-chr4:74072724..74077034,4	K562	blood:
21	chr4:74049747..74053903-chr4:74055413..74060187,5	K562	blood:
22	chr4:74065951..74068812-chr4:74070946..74073291,3	K562	blood:
23	chr4:74054562..74057067-chr4:74057401..74060235,2	K562	blood:
24	chr4:74072374..74074564-chr4:74074721..74076887,2	K562	blood:
25	chr4:74068748..74071542-chr4:74072724..74077034,4	K562	blood:
26	chr4:74070251..74073029-chr4:74074120..74076871,2	MCF-7	breast:
27	chr4:74050887..74052868-chr4:74066183..74068472,2	K562	blood:
28	chr4:74065951..74068812-chr4:74070946..74073291,3	K562	blood:
29	chr4:74060240..74062620-chr4:74065043..74067696,2	K562	blood:
30	chr4:74060240..74062620-chr4:74065043..74067696,2	K562	blood:
31	chr4:74067827..74069350-chr4:74117043..74119731,2	K562	blood:
32	chr4:74065003..74066606-chr4:74087400..74088901,2	K562	blood:
33	chr4:74050887..74052868-chr4:74066183..74068472,2	K562	blood:
34	chr4:74070251..74073029-chr4:74074120..74076871,2	MCF-7	breast:
35	chr4:74010850..74012963-chr4:74063750..74065280,2	MCF-7	breast:
36	chr4:74054729..74058685-chr4:74124246..74126441,3	MCF-7	breast:
37	chr4:74042864..74048117-chr4:74049066..74052625,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250220	chromatin interactions
ENSG00000132466	chromatin interactions

Extended variants
information (count: 824 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6446916	chr4:74052028-74052029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566478631	chr4:74052059-74052060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147581975	chr4:74052078-74052079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142096552	chr4:74052130-74052131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570643864	chr4:74052137-74052138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146733532	chr4:74052206-74052207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190835971	chr4:74052210-74052211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113663917	chr4:74052212-74052213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376070106	chr4:74052217-74052218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574716888	chr4:74052258-74052259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535392437	chr4:74052290-74052291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554492876	chr4:74052331-74052332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145837182	chr4:74052333-74052334	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148981274	chr4:74052352-74052353	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs34790243	chr4:74052399-74052400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565069197	chr4:74052419-74052420	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183233197	chr4:74052455-74052456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544833864	chr4:74052468-74052469	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562952392	chr4:74052485-74052486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530372178	chr4:74052533-74052534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78204020	chr4:74052544-74052545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369073636	chr4:74052562-74052563	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187902428	chr4:74052567-74052568	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74350893	chr4:74052602-74052603	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368214099	chr4:74052606-74052607	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559837620	chr4:74052671-74052672	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs34337120	chr4:74052682-74052683	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35503285	chr4:74052683-74052684	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200270291	chr4:74052696-74052697	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552279149	chr4:74052718-74052719	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372002581	chr4:74052802-74052803	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570605803	chr4:74052804-74052805	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531395726	chr4:74052853-74052854	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576679573	chr4:74052855-74052856	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549907835	chr4:74052940-74052941	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568162483	chr4:74052982-74052983	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535711296	chr4:74052993-74052994	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143795299	chr4:74053018-74053019	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs566509197	chr4:74053073-74053074	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552435940	chr4:74053119-74053120	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570804396	chr4:74053120-74053121	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537791370	chr4:74053176-74053177	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557765227	chr4:74053241-74053242	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs78067918	chr4:74053267-74053268	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113286214	chr4:74053268-74053269	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544384037	chr4:74053309-74053310	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369266626	chr4:74053339-74053340	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs75038538	chr4:74053375-74053376	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190620300	chr4:74053412-74053413	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542526177	chr4:74053463-74053464	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74008800-74059600	Weak transcription	Fetal Brain Male	brain
2	chr4:74018400-74055200	Weak transcription	Psoas Muscle	Psoas
3	chr4:74031600-74066800	Weak transcription	HMEC	breast
4	chr4:74031600-74077200	Weak transcription	Small Intestine	intestine
5	chr4:74036600-74088200	Weak transcription	Colonic Mucosa	Colon
6	chr4:74036800-74055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:74036800-74055200	Weak transcription	Pancreas	Pancrea
8	chr4:74036800-74059400	Weak transcription	Spleen	Spleen
9	chr4:74036800-74062800	Weak transcription	Aorta	Aorta
10	chr4:74036800-74064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:74037000-74055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:74037000-74064800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:74037000-74072200	Weak transcription	Gastric	stomach
14	chr4:74037200-74058800	Weak transcription	NHEK	skin
15	chr4:74037200-74064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:74037800-74052200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:74039400-74058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:74039400-74062200	Weak transcription	HSMM	muscle
19	chr4:74039400-74064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:74039400-74068800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:74039600-74053000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:74039600-74053800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:74039600-74055200	Weak transcription	Fetal Stomach	stomach
24	chr4:74039600-74062800	Weak transcription	Thymus	Thymus
25	chr4:74039600-74067600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:74039800-74055600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:74039800-74066000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:74039800-74074600	Weak transcription	Left Ventricle	heart
29	chr4:74040200-74064800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:74040200-74065800	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:74040400-74053000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:74040400-74056400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:74041200-74052600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:74041200-74052600	Weak transcription	Fetal Kidney	kidney
35	chr4:74041200-74053800	Weak transcription	Brain Germinal Matrix	brain
36	chr4:74041200-74059800	Weak transcription	NHLF	lung
37	chr4:74041600-74052800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:74041600-74055200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:74042200-74052600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:74042200-74055200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:74042400-74064600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:74042600-74053400	Weak transcription	Fetal Brain Female	brain
43	chr4:74043000-74058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:74043000-74063200	Weak transcription	Osteobl	bone
45	chr4:74043200-74052800	Weak transcription	NH-A	brain
46	chr4:74043200-74055200	Weak transcription	K562	blood
47	chr4:74043200-74067800	Weak transcription	Fetal Intestine Large	intestine
48	chr4:74043200-74088200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:74043400-74056600	Weak transcription	Placenta	Placenta
50	chr4:74043400-74062800	Weak transcription	Fetal Thymus	thymus

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