Variant report

Variant	esv3446943
Chromosome Location	chr3:159388471-159409743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:159401864..159406023-chr3:159481589..159485407,3	MCF-7	breast:
2	chr3:159393169..159395467-chr3:159400296..159402863,3	MCF-7	breast:
3	chr3:159393169..159395467-chr3:159400296..159402863,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250588	chromatin interactions

Extended variants
information (count: 561 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80319756	chr3:159388482-159388483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533853650	chr3:159388626-159388627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555182595	chr3:159388634-159388635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182359241	chr3:159388637-159388638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570096699	chr3:159388666-159388667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369839300	chr3:159388677-159388678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146831780	chr3:159388678-159388679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372103465	chr3:159388690-159388691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537448043	chr3:159388691-159388692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555782911	chr3:159388727-159388728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112876273	chr3:159388729-159388730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113396910	chr3:159388741-159388742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564313411	chr3:159388750-159388751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573373518	chr3:159388803-159388804	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs79370788	chr3:159388821-159388822	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs554677498	chr3:159388822-159388823	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs74395479	chr3:159388830-159388831	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs574461345	chr3:159388854-159388855	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs535411264	chr3:159388858-159388859	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs112637038	chr3:159388869-159388870	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs186103162	chr3:159388940-159388941	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs562902274	chr3:159388953-159388954	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs114599132	chr3:159388970-159388971	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs140924903	chr3:159388971-159388972	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs142383055	chr3:159389019-159389020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527500122	chr3:159389029-159389030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111433316	chr3:159389076-159389077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567242154	chr3:159389095-159389096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546145423	chr3:159389097-159389098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537586052	chr3:159389103-159389104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564268277	chr3:159389111-159389112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190516359	chr3:159389119-159389120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151297986	chr3:159389126-159389127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140523345	chr3:159389186-159389187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558177274	chr3:159389222-159389223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576226540	chr3:159389229-159389230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182782162	chr3:159389255-159389256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150424892	chr3:159389285-159389286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187068505	chr3:159389293-159389294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562953025	chr3:159389303-159389304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367928401	chr3:159389304-159389305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544743068	chr3:159389306-159389307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562840012	chr3:159389308-159389309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146551244	chr3:159389310-159389311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141189886	chr3:159389346-159389347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79277772	chr3:159389378-159389379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145563766	chr3:159389398-159389399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191359159	chr3:159389439-159389440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114683246	chr3:159389443-159389444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138087435	chr3:159389541-159389542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159383800-159395000	Weak transcription	Right Atrium	heart
2	chr3:159385400-159391000	Weak transcription	HMEC	breast
3	chr3:159385400-159397400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:159386000-159392600	Weak transcription	Left Ventricle	heart
5	chr3:159387200-159388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:159387600-159390800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:159387800-159390200	Weak transcription	Fetal Intestine Large	intestine
8	chr3:159387800-159392000	Weak transcription	NHEK	skin
9	chr3:159387800-159392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:159388000-159390400	Weak transcription	Fetal Intestine Small	intestine
11	chr3:159388200-159392000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:159388400-159390400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:159388800-159389000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr3:159388800-159389400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:159389400-159392000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:159390200-159392200	Enhancers	Fetal Intestine Large	intestine
17	chr3:159390400-159391200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:159390400-159391200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:159390400-159391400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:159390400-159391600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:159390400-159391600	Enhancers	Fetal Intestine Small	intestine
22	chr3:159390800-159391400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:159390800-159391600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:159391000-159391400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:159391000-159393600	Enhancers	HMEC	breast
26	chr3:159391400-159391600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:159391600-159393800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:159392000-159393000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:159392000-159393200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:159392000-159393400	Enhancers	NHEK	skin
31	chr3:159392000-159396000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:159392200-159393400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:159392600-159393000	Enhancers	Left Ventricle	heart
34	chr3:159392600-159393200	Enhancers	Colon Smooth Muscle	Colon
35	chr3:159393000-159395600	Weak transcription	Left Ventricle	heart
36	chr3:159394400-159395200	Enhancers	Spleen	Spleen
37	chr3:159395000-159395200	Enhancers	Right Atrium	heart
38	chr3:159395600-159395800	Enhancers	Left Ventricle	heart
39	chr3:159396000-159396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:159396200-159396600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:159396600-159398000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:159397400-159397600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:159403400-159404000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:159403600-159404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:159403600-159404200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links