Variant report

Variant	esv2639866
Chromosome Location	chr2:46945257-46946677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46946506..46948828-chr2:46997236..46999160,2	K562	blood:
2	chr2:46944884..46947962-chr2:46948655..46951641,3	K562	blood:
3	chr2:46924864..46926962-chr2:46945163..46948583,3	MCF-7	breast:
4	chr2:46923183..46926073-chr2:46944483..46946206,2	K562	blood:
5	chr2:46926353..46928054-chr2:46945073..46946618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171150	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34174442	chr2:46945259-46945260	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186124419	chr2:46945269-46945270	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78820632	chr2:46945299-46945300	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145189626	chr2:46945353-46945354	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374124669	chr2:46945384-46945385	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149124907	chr2:46945395-46945396	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559333788	chr2:46945424-46945425	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548269939	chr2:46945488-46945489	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569863306	chr2:46945508-46945509	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537606345	chr2:46945535-46945536	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558895174	chr2:46945574-46945575	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571092042	chr2:46945595-46945596	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116970465	chr2:46945650-46945651	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553731633	chr2:46945706-46945707	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144839173	chr2:46945839-46945840	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111982871	chr2:46945876-46945877	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56006635	chr2:46945893-46945894	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576057515	chr2:46945907-46945908	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56224128	chr2:46945954-46945955	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370312752	chr2:46945994-46945995	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532406053	chr2:46946013-46946014	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138684729	chr2:46946023-46946024	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559265632	chr2:46946026-46946027	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530036649	chr2:46946055-46946056	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115564769	chr2:46946084-46946085	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183449349	chr2:46946087-46946088	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187932916	chr2:46946091-46946092	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs72881392	chr2:46946131-46946132	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543412249	chr2:46946151-46946152	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141711390	chr2:46946181-46946182	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192778335	chr2:46946184-46946185	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145425745	chr2:46946189-46946190	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182122066	chr2:46946204-46946205	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186555888	chr2:46946212-46946213	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536207354	chr2:46946213-46946214	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554614094	chr2:46946239-46946240	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148016781	chr2:46946279-46946280	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543172206	chr2:46946280-46946281	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558645436	chr2:46946326-46946327	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373677441	chr2:46946335-46946336	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192542277	chr2:46946343-46946344	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549680376	chr2:46946349-46946350	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115112974	chr2:46946370-46946371	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529948564	chr2:46946385-46946386	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541787862	chr2:46946400-46946401	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563555720	chr2:46946431-46946432	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184539595	chr2:46946454-46946455	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552375530	chr2:46946460-46946461	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115934712	chr2:46946464-46946465	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190431486	chr2:46946472-46946473	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46928800-46946200	Weak transcription	NHEK	skin
2	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:46934600-46946400	Weak transcription	HSMM	muscle
4	chr2:46936800-46946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:46940600-46946400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:46941200-46945400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr2:46942400-46947800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:46942800-46946400	Weak transcription	HUVEC	blood vessel
9	chr2:46942800-46948600	Enhancers	NH-A	brain
10	chr2:46943600-46945600	Flanking Active TSS	Osteobl	bone
11	chr2:46943800-46945400	Enhancers	Psoas Muscle	Psoas
12	chr2:46943800-46947800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:46943800-46948000	Weak transcription	Fetal Stomach	stomach
14	chr2:46944000-46945400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:46944000-46945400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:46944000-46945400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:46944000-46945400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:46944000-46945600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:46944000-46946400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:46944000-46946600	Weak transcription	Fetal Thymus	thymus
21	chr2:46944200-46945400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:46944200-46945400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:46944200-46945400	Enhancers	Colon Smooth Muscle	Colon
24	chr2:46944200-46945400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:46944200-46946600	Weak transcription	Thymus	Thymus
26	chr2:46944200-46948200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:46944400-46945400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:46944400-46945800	Active TSS	NHLF	lung
29	chr2:46944400-46947800	Weak transcription	Left Ventricle	heart
30	chr2:46944400-46947800	Weak transcription	Pancreas	Pancrea
31	chr2:46944600-46945400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:46944600-46946200	Weak transcription	Primary B cells from cord blood	blood
33	chr2:46944600-46946600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:46944600-46947800	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:46944800-46945400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:46944800-46945400	Flanking Active TSS	NHDF-Ad	bronchial
37	chr2:46945000-46945400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:46945000-46945400	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:46945000-46945400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:46945000-46945400	Enhancers	Liver	Liver
41	chr2:46945000-46945400	Enhancers	Right Ventricle	heart
42	chr2:46945000-46945400	Active TSS	Stomach Smooth Muscle	stomach
43	chr2:46945000-46945600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:46945000-46945600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:46945000-46947200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:46945000-46948000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:46945200-46945400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:46945200-46945400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:46945200-46945400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:46945200-46945400	Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links