Variant report

Variant	esv3384500
Chromosome Location	chr3:24224448-24227746
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24227147..24228071-chr3:24641147..24641703,2	K562	blood:
2	chr3:24227165..24227901-chr3:24724976..24725696,3	MCF-7	breast:
3	chr3:24227532..24228092-chr3:24279425..24280173,2	K562	blood:
4	chr3:24226799..24228075-chr3:24279198..24280289,8	MCF-7	breast:
5	chr3:24225359..24227468-chr3:24534115..24535866,2	K562	blood:
6	chr3:24040049..24041089-chr3:24227019..24228043,3	MCF-7	breast:
7	chr3:24214802..24217658-chr3:24221496..24225261,5	K562	blood:
8	chr3:24223290..24225553-chr3:24274911..24277422,2	K562	blood:
9	chr3:24227575..24229278-chr3:24535483..24537520,2	K562	blood:
10	chr3:24227567..24229644-chr3:24275208..24278137,2	MCF-7	breast:
11	chr3:24220904..24222496-chr3:24224226..24226346,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151090	chromatin interactions
ENSG00000228791	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80150109	chr3:24224449-24224450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140669595	chr3:24224451-24224452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538601071	chr3:24224478-24224479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150119765	chr3:24224551-24224552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534096676	chr3:24224575-24224576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556004137	chr3:24224588-24224589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574134237	chr3:24224604-24224605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544714092	chr3:24224627-24224628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563010750	chr3:24224666-24224667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578059014	chr3:24224746-24224747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545413487	chr3:24224752-24224753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560159393	chr3:24224764-24224765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199806317	chr3:24224778-24224779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375182579	chr3:24224781-24224782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs865440	chr3:24224785-24224786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138697185	chr3:24224795-24224796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371415453	chr3:24224804-24224805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369734162	chr3:24224840-24224841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369260887	chr3:24224841-24224842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150565339	chr3:24224859-24224860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531450767	chr3:24224898-24224899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549458906	chr3:24224949-24224950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184650992	chr3:24224961-24224962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141340276	chr3:24224962-24224963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190232307	chr3:24224992-24224993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547605395	chr3:24225024-24225025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567010802	chr3:24225029-24225030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534507587	chr3:24225035-24225036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567229764	chr3:24225069-24225070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536318630	chr3:24225116-24225117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574274630	chr3:24225118-24225119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113816522	chr3:24225153-24225154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556673169	chr3:24225155-24225156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35441182	chr3:24225171-24225172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578065672	chr3:24225217-24225218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182413132	chr3:24225314-24225315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75828381	chr3:24225360-24225361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576242081	chr3:24225432-24225433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77817315	chr3:24225434-24225435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560892310	chr3:24225488-24225489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531389907	chr3:24225506-24225507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78939224	chr3:24225536-24225537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141894034	chr3:24225548-24225549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369015283	chr3:24225564-24225565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185984288	chr3:24225579-24225580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532241650	chr3:24225612-24225613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12630037	chr3:24225629-24225630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79099271	chr3:24225691-24225692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62253674	chr3:24225692-24225693	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146980467	chr3:24225712-24225713	Weak transcription	Chromatin interactive region	1 gene(s)	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24186200-24230800	Weak transcription	Fetal Intestine Large	intestine
2	chr3:24199400-24225800	Weak transcription	Fetal Intestine Small	intestine
3	chr3:24207000-24227000	Weak transcription	Left Ventricle	heart
4	chr3:24211600-24225800	Weak transcription	Psoas Muscle	Psoas
5	chr3:24216600-24226200	Weak transcription	K562	blood
6	chr3:24218600-24227400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:24218800-24225800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:24219200-24227000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:24219400-24226000	Weak transcription	NHDF-Ad	bronchial
10	chr3:24219800-24227200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:24222400-24227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:24223200-24227200	Weak transcription	Pancreas	Pancrea
13	chr3:24223200-24234400	Weak transcription	HepG2	liver
14	chr3:24223400-24227400	Weak transcription	Stomach Mucosa	stomach
15	chr3:24223400-24233400	Weak transcription	Liver	Liver
16	chr3:24223800-24227200	Weak transcription	Fetal Heart	heart
17	chr3:24224000-24227200	Weak transcription	Placenta	Placenta
18	chr3:24224400-24225800	Weak transcription	Aorta	Aorta
19	chr3:24224400-24225800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:24224400-24227000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:24224800-24227200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:24224800-24227200	Weak transcription	Right Atrium	heart
23	chr3:24225000-24232800	Weak transcription	Fetal Lung	lung
24	chr3:24225800-24226000	Enhancers	Right Ventricle	heart
25	chr3:24225800-24226400	Enhancers	Aorta	Aorta
26	chr3:24225800-24227600	Strong transcription	Fetal Intestine Small	intestine
27	chr3:24225800-24227800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:24225800-24228000	Enhancers	Psoas Muscle	Psoas
29	chr3:24225800-24228200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:24226000-24226200	Enhancers	Brain Angular Gyrus	brain
31	chr3:24226000-24227200	Weak transcription	Right Ventricle	heart
32	chr3:24226000-24228800	Enhancers	NHDF-Ad	bronchial
33	chr3:24226200-24227200	Weak transcription	Brain Angular Gyrus	brain
34	chr3:24226200-24227200	Enhancers	K562	blood
35	chr3:24226200-24227800	Enhancers	Adipose Nuclei	Adipose
36	chr3:24226400-24230000	Weak transcription	Aorta	Aorta
37	chr3:24227000-24227600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:24227000-24227600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:24227000-24227600	Enhancers	Colon Smooth Muscle	Colon
40	chr3:24227000-24227800	Enhancers	Left Ventricle	heart
41	chr3:24227000-24228000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:24227000-24228000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr3:24227000-24228200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:24227200-24227400	Enhancers	Brain Angular Gyrus	brain
45	chr3:24227200-24227400	Weak transcription	Fetal Stomach	stomach
46	chr3:24227200-24227400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr3:24227200-24227400	Flanking Active TSS	K562	blood
48	chr3:24227200-24227600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr3:24227200-24227600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:24227200-24227600	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links