Variant report

Variant	esv3427623
Chromosome Location	chr3:24546484-24547989
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24541351..24543279-chr3:24546883..24549843,2	MCF-7	breast:
2	chr3:24543533..24545427-chr3:24547333..24549545,2	K562	blood:
3	chr3:23986883..23988748-chr3:24547232..24549408,2	K562	blood:
4	chr3:24544311..24546900-chr3:24549591..24551326,2	K562	blood:
5	chr3:24504143..24505671-chr3:24547966..24550794,2	K562	blood:
6	chr3:24535073..24541427-chr3:24545752..24549370,7	MCF-7	breast:
7	chr3:24537125..24539078-chr3:24545572..24547994,2	MCF-7	breast:
8	chr3:24542552..24545017-chr3:24545304..24547564,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228791	chromatin interactions
ENSG00000272554	chromatin interactions
ENSG00000151090	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000174738	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533415540	chr3:24546504-24546505	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs113315878	chr3:24546509-24546510	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs571153283	chr3:24546515-24546516	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs566716401	chr3:24546570-24546571	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539642256	chr3:24546630-24546631	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532089161	chr3:24546633-24546634	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2007230	chr3:24546660-24546661	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201463685	chr3:24546688-24546689	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs139204623	chr3:24546690-24546691	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs78351682	chr3:24546691-24546692	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs201362428	chr3:24546692-24546693	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs397836842	chr3:24546724-24546725	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs33932729	chr3:24546725-24546726	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs36020090	chr3:24546728-24546729	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs183353071	chr3:24546825-24546826	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs566731183	chr3:24546882-24546883	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs188829573	chr3:24546901-24546902	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs535510372	chr3:24546939-24546940	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs371765390	chr3:24546940-24546941	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs555987217	chr3:24546944-24546945	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs555462989	chr3:24547071-24547072	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs577425318	chr3:24547076-24547077	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs78087310	chr3:24547088-24547089	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553472948	chr3:24547107-24547108	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs76917604	chr3:24547116-24547117	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370666493	chr3:24547127-24547128	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs542644008	chr3:24547128-24547129	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556951820	chr3:24547364-24547365	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs555778188	chr3:24547377-24547378	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs577112963	chr3:24547415-24547416	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs574324942	chr3:24547434-24547435	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs544927309	chr3:24547447-24547448	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs563028038	chr3:24547476-24547477	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs116500687	chr3:24547522-24547523	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs545488713	chr3:24547530-24547531	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs116772658	chr3:24547595-24547596	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs545790411	chr3:24547630-24547631	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs527669141	chr3:24547631-24547632	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs549397225	chr3:24547732-24547733	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs567444215	chr3:24547746-24547747	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs531462753	chr3:24547751-24547752	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs77130276	chr3:24547764-24547765	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs571082327	chr3:24547770-24547771	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs141533920	chr3:24547779-24547780	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs192705674	chr3:24547781-24547782	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs377468836	chr3:24547808-24547809	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs2060529	chr3:24547817-24547818	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535870274	chr3:24547822-24547823	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs554505543	chr3:24547866-24547867	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs184193932	chr3:24547878-24547879	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24538200-24547000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:24538200-24552000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:24538200-24560600	Weak transcription	Aorta	Aorta
4	chr3:24538400-24549000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:24539000-24547400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:24539000-24560200	Weak transcription	HepG2	liver
7	chr3:24540600-24549000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:24541000-24549000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:24542800-24547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:24542800-24548800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:24542800-24549400	Weak transcription	HSMM	muscle
12	chr3:24543800-24549200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:24544000-24547000	Enhancers	Primary B cells from cord blood	blood
14	chr3:24544200-24547800	Enhancers	Fetal Intestine Small	intestine
15	chr3:24544200-24548200	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:24544800-24548600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:24544800-24549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:24544800-24549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:24545000-24548800	Weak transcription	NHEK	skin
20	chr3:24545000-24549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:24545000-24549000	Weak transcription	HMEC	breast
22	chr3:24545800-24547800	Enhancers	Stomach Mucosa	stomach
23	chr3:24546000-24548600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:24546000-24548800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:24546200-24547000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:24546400-24546600	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr3:24546400-24547400	Enhancers	K562	blood
28	chr3:24546400-24547600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr3:24546400-24547800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr3:24546400-24550600	Enhancers	NHDF-Ad	bronchial
31	chr3:24546600-24546800	Enhancers	Fetal Intestine Large	intestine
32	chr3:24546800-24547000	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr3:24546800-24547600	Enhancers	Small Intestine	intestine
34	chr3:24547000-24547200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr3:24547000-24547800	Weak transcription	Primary B cells from cord blood	blood
36	chr3:24547000-24547800	Enhancers	Fetal Intestine Large	intestine
37	chr3:24547000-24548600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:24547000-24550600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:24547200-24547400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr3:24547400-24547600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:24547400-24547600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr3:24547400-24547800	Enhancers	Duodenum Mucosa	Duodenum
43	chr3:24547400-24548000	Flanking Active TSS	K562	blood
44	chr3:24547400-24549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:24547600-24547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:24547600-24547800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr3:24547600-24550000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr3:24547800-24548600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:24547800-24548600	Weak transcription	Stomach Mucosa	stomach
50	chr3:24547800-24548800	Weak transcription	Fetal Intestine Large	intestine

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