Variant report

Variant	nsv3733
Chromosome Location	chr3:24216577-24261749
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24232065..24234894-chr3:24391713..24393801,2	K562	blood:
2	chr3:24214802..24217658-chr3:24221574..24223336,2	K562	blood:
3	chr3:24252147..24254879-chr3:24255849..24257374,2	MCF-7	breast:
4	chr3:24226799..24228075-chr3:24279198..24280289,8	MCF-7	breast:
5	chr3:24255386..24257362-chr3:24260711..24262954,2	K562	blood:
6	chr3:24259435..24261786-chr3:24263751..24265876,2	K562	blood:
7	chr3:24207269..24209269-chr3:24216432..24218298,2	K562	blood:
8	chr3:24253238..24254897-chr3:24293051..24294557,2	K562	blood:
9	chr3:24234985..24237578-chr3:24536395..24538571,2	MCF-7	breast:
10	chr3:24227165..24227901-chr3:24724976..24725696,3	MCF-7	breast:
11	chr3:24220904..24222496-chr3:24224226..24226346,2	K562	blood:
12	chr3:24220904..24222496-chr3:24224226..24226346,2	K562	blood:
13	chr3:24227532..24228092-chr3:24279425..24280173,2	K562	blood:
14	chr3:24215225..24217307-chr3:24220180..24222415,2	MCF-7	breast:
15	chr3:24225359..24227468-chr3:24534115..24535866,2	K562	blood:
16	chr3:24215225..24217307-chr3:24220180..24222415,2	MCF-7	breast:
17	chr3:24258383..24262308-chr3:24263138..24268304,6	K562	blood:
18	chr3:24217959..24220523-chr3:24222003..24223745,2	K562	blood:
19	chr3:24214802..24217658-chr3:24221496..24225261,5	K562	blood:
20	chr3:24214802..24217658-chr3:24221574..24223336,2	K562	blood:
21	chr3:24255862..24257530-chr3:24261420..24262954,2	K562	blood:
22	chr3:24252147..24254879-chr3:24255849..24257374,2	MCF-7	breast:
23	chr3:24214802..24217658-chr3:24221496..24225261,5	K562	blood:
24	chr3:24040049..24041089-chr3:24227019..24228043,3	MCF-7	breast:
25	chr3:24255386..24257362-chr3:24260711..24262954,2	K562	blood:
26	chr3:24227147..24228071-chr3:24641147..24641703,2	K562	blood:
27	chr3:23957669..23959177-chr3:24227758..24229800,2	K562	blood:
28	chr3:24253187..24255607-chr3:24256066..24257783,2	MCF-7	breast:
29	chr3:24227567..24229644-chr3:24275208..24278137,2	MCF-7	breast:
30	chr3:23957342..23959177-chr3:24227758..24229606,2	K562	blood:
31	chr3:24204352..24207923-chr3:24212608..24216820,4	MCF-7	breast:
32	chr3:24223290..24225553-chr3:24274911..24277422,2	K562	blood:
33	chr3:24253187..24255607-chr3:24256066..24257783,2	MCF-7	breast:
34	chr3:24227575..24229278-chr3:24535483..24537520,2	K562	blood:
35	chr3:24261056..24262787-chr3:24262896..24264635,2	MCF-7	breast:
36	chr3:24217959..24220523-chr3:24222003..24223745,2	K562	blood:
37	chr3:24255862..24257530-chr3:24261420..24262954,2	K562	blood:
38	chr3:24212101..24214083-chr3:24217846..24220126,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197885	chromatin interactions
ENSG00000228791	chromatin interactions
ENSG00000151090	chromatin interactions
ENSG00000174748	chromatin interactions

Extended variants
information (count: 2004 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2004 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188726726	chr3:24216588-24216589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557213442	chr3:24216604-24216605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34790732	chr3:24216628-24216629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377619128	chr3:24216629-24216630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555646788	chr3:24216703-24216704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180804484	chr3:24216741-24216742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370927876	chr3:24216749-24216750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572931633	chr3:24216793-24216794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540333781	chr3:24216796-24216797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73037618	chr3:24216812-24216813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374288751	chr3:24216856-24216857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561678357	chr3:24216863-24216864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374067739	chr3:24216871-24216872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139895068	chr3:24216924-24216925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185108849	chr3:24217018-24217019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531132387	chr3:24217031-24217032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190701375	chr3:24217157-24217158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377712587	chr3:24217174-24217175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537892200	chr3:24217207-24217208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369176758	chr3:24217213-24217214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564350209	chr3:24217276-24217277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182198903	chr3:24217302-24217303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186828417	chr3:24217352-24217353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62255851	chr3:24217374-24217375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62255852	chr3:24217377-24217378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74334288	chr3:24217379-24217380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77719660	chr3:24217380-24217381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75098995	chr3:24217382-24217383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77668716	chr3:24217383-24217384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78847702	chr3:24217385-24217386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75020798	chr3:24217386-24217387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74916222	chr3:24217387-24217388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557938642	chr3:24217388-24217389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79371710	chr3:24217389-24217390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78356726	chr3:24217390-24217391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534018473	chr3:24217391-24217392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78558951	chr3:24217392-24217393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551462638	chr3:24217393-24217394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62255853	chr3:24217395-24217396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571318194	chr3:24217397-24217398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62255854	chr3:24217398-24217399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544168729	chr3:24217417-24217418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562360975	chr3:24217456-24217457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575493206	chr3:24217517-24217518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191529227	chr3:24217522-24217523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564489522	chr3:24217562-24217563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73138648	chr3:24217581-24217582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145323496	chr3:24217590-24217591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143877499	chr3:24217614-24217615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34190267	chr3:24217634-24217635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24186200-24230800	Weak transcription	Fetal Intestine Large	intestine
2	chr3:24198800-24218800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:24199400-24225800	Weak transcription	Fetal Intestine Small	intestine
4	chr3:24202400-24218000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:24203600-24218600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:24207000-24222200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:24207000-24227000	Weak transcription	Left Ventricle	heart
8	chr3:24211600-24225800	Weak transcription	Psoas Muscle	Psoas
9	chr3:24213800-24218600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:24216200-24216600	Enhancers	K562	blood
11	chr3:24216400-24217000	Enhancers	Aorta	Aorta
12	chr3:24216600-24226200	Weak transcription	K562	blood
13	chr3:24217000-24223800	Weak transcription	Aorta	Aorta
14	chr3:24217800-24219400	Enhancers	NHDF-Ad	bronchial
15	chr3:24218000-24218200	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:24218000-24219800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:24218200-24218400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:24218200-24218800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:24218200-24219000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:24218400-24219000	Enhancers	Brain Anterior Caudate	brain
21	chr3:24218600-24219000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr3:24218600-24219200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:24218600-24219200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:24218600-24227400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:24218800-24219000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:24218800-24219000	Enhancers	Fetal Brain Male	brain
27	chr3:24218800-24219200	Enhancers	Colon Smooth Muscle	Colon
28	chr3:24218800-24225800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:24219000-24219200	Enhancers	Rectal Smooth Muscle	rectum
30	chr3:24219000-24219400	Enhancers	Stomach Smooth Muscle	stomach
31	chr3:24219200-24219800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:24219200-24223000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:24219200-24227000	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:24219400-24226000	Weak transcription	NHDF-Ad	bronchial
35	chr3:24219800-24220000	Enhancers	Pancreas	Pancrea
36	chr3:24219800-24220000	Enhancers	Rectal Smooth Muscle	rectum
37	chr3:24219800-24227200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:24222000-24223200	Enhancers	Pancreas	Pancrea
39	chr3:24222200-24222400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:24222200-24223400	Enhancers	Liver	Liver
41	chr3:24222400-24227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:24222600-24223400	Enhancers	Stomach Mucosa	stomach
43	chr3:24223000-24223200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:24223000-24223200	Enhancers	HepG2	liver
45	chr3:24223200-24223600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:24223200-24227200	Weak transcription	Pancreas	Pancrea
47	chr3:24223200-24234400	Weak transcription	HepG2	liver
48	chr3:24223400-24227400	Weak transcription	Stomach Mucosa	stomach
49	chr3:24223400-24233400	Weak transcription	Liver	Liver
50	chr3:24223600-24224400	Enhancers	Skeletal Muscle Female	skeletal muscle

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