Variant report

Variant	nsv1005091
Chromosome Location	chr2:77009508-77112403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
2	chr2:77111498..77113879-chr21:46359661..46361542,2	MCF-7	breast:
3	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
4	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:
5	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:

Variant related genes	Relation type
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions

Extended variants
information (count: 3677 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:3677 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546998402	chr2:77009511-77009512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111895800	chr2:77009536-77009537	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568760862	chr2:77009538-77009539	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570043004	chr2:77009565-77009566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146803501	chr2:77009575-77009576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537234491	chr2:77009589-77009590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569010527	chr2:77009590-77009591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181750627	chr2:77009601-77009602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186399410	chr2:77009611-77009612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572918402	chr2:77009639-77009640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534067141	chr2:77009690-77009691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1980199	chr2:77009693-77009694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191161740	chr2:77009706-77009707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573918102	chr2:77009736-77009737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145662513	chr2:77009755-77009756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376791751	chr2:77009760-77009761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182472775	chr2:77009765-77009766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539769856	chr2:77009784-77009785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560160795	chr2:77009840-77009841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185954927	chr2:77009847-77009848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190826323	chr2:77009850-77009851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111374378	chr2:77009864-77009865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529641388	chr2:77009874-77009875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34027039	chr2:77009891-77009892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550850648	chr2:77009916-77009917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183085347	chr2:77009934-77009935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1914507	chr2:77009999-77010000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112095089	chr2:77010007-77010008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112962439	chr2:77010034-77010035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534886028	chr2:77010042-77010043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187192003	chr2:77010050-77010051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566652400	chr2:77010062-77010063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146539723	chr2:77010067-77010068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555777919	chr2:77010081-77010082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546733986	chr2:77010133-77010134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368779036	chr2:77010134-77010135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80153635	chr2:77010142-77010143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192058049	chr2:77010146-77010147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139968451	chr2:77010148-77010149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149227161	chr2:77010151-77010152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535542187	chr2:77010152-77010153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143047713	chr2:77010185-77010186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553445339	chr2:77010202-77010203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113409742	chr2:77010272-77010273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143375073	chr2:77010283-77010284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148356289	chr2:77010336-77010337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141495753	chr2:77010351-77010352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7355509	chr2:77010372-77010373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183006022	chr2:77010377-77010378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572084263	chr2:77010378-77010379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77008800-77009600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:77008800-77009600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:77009000-77039000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:77009200-77009600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:77009200-77013000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:77009400-77010400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:77009400-77013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:77009400-77022600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:77009600-77010000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:77009600-77038200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:77010000-77010800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:77010400-77012400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:77010600-77010800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:77010800-77011200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:77010800-77012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:77011200-77011400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:77011400-77014600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:77012400-77014200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:77012800-77013400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:77013000-77014400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:77013200-77014000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:77013400-77014400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:77014200-77023800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:77014400-77014600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:77014400-77015600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:77015600-77016600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:77016200-77016600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:77020000-77020400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:77020400-77020800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:77020600-77021400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:77020600-77021400	Enhancers	Stomach Mucosa	stomach
32	chr2:77020800-77021400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:77021000-77021200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:77021200-77025400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:77022600-77023000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:77023000-77023200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:77023000-77023400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:77023800-77024000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:77023800-77024200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:77035000-77037000	Enhancers	Fetal Lung	lung
41	chr2:77035200-77035400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:77035600-77036600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:77035800-77036200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:77035800-77036200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:77036000-77036200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:77036200-77041800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:77036400-77036600	Enhancers	Fetal Kidney	kidney
48	chr2:77036600-77037000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:77036600-77038600	Weak transcription	Fetal Kidney	kidney
50	chr2:77036800-77037000	Enhancers	HUES6 Cell Line	embryonic stem cell

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