Variant report

Variant	esv3441712
Chromosome Location	chr2:97063925-97067223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97060310..97063276-chr2:97064799..97066354,2	MCF-7	breast:
2	chr2:97061633..97063234-chr2:97066629..97068865,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370809583	chr2:97063929-97063930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570952439	chr2:97064020-97064021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369212000	chr2:97064034-97064035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187503493	chr2:97064069-97064070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539811688	chr2:97064095-97064096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556486458	chr2:97064152-97064153	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192163766	chr2:97064186-97064187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144290171	chr2:97064206-97064207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138840582	chr2:97064249-97064250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572302709	chr2:97064265-97064266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541255345	chr2:97064272-97064273	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375972189	chr2:97064336-97064337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182522486	chr2:97064355-97064356	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564916915	chr2:97064358-97064359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545604397	chr2:97064396-97064397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188035022	chr2:97064469-97064470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368069706	chr2:97064512-97064513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34238436	chr2:97064528-97064529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562458884	chr2:97064533-97064534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192605145	chr2:97064550-97064551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184215681	chr2:97064557-97064558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562007036	chr2:97064576-97064577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189602189	chr2:97064582-97064583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142160988	chr2:97064656-97064657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570568928	chr2:97064657-97064658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59503513	chr2:97064665-97064666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201637563	chr2:97064666-97064667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398090487	chr2:97064676-97064677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368274997	chr2:97064677-97064678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532290813	chr2:97064691-97064692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367804591	chr2:97064692-97064693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550935716	chr2:97064720-97064721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373111744	chr2:97064722-97064723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72825899	chr2:97064723-97064724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529869464	chr2:97064734-97064735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184875404	chr2:97064736-97064737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188763562	chr2:97064799-97064800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572442899	chr2:97064829-97064830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535004679	chr2:97064897-97064898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78144108	chr2:97064923-97064924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181577471	chr2:97064926-97064927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572755307	chr2:97064927-97064928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578114370	chr2:97064949-97064950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545840999	chr2:97064978-97064979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562482385	chr2:97065076-97065077	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs376921822	chr2:97065102-97065103	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs548416078	chr2:97065191-97065192	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs575983512	chr2:97065209-97065210	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567622053	chr2:97065211-97065212	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199859785	chr2:97065228-97065229	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21990379	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97061800-97064000	Enhancers	Adipose Nuclei	Adipose
2	chr2:97061800-97064000	Enhancers	Placenta	Placenta
3	chr2:97062000-97065200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:97062400-97065400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:97062600-97065400	Weak transcription	Spleen	Spleen
6	chr2:97063000-97073200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:97063200-97064000	Enhancers	Fetal Thymus	thymus
8	chr2:97063400-97064400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:97063600-97065800	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:97063800-97065200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:97063800-97065400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:97064000-97069400	Weak transcription	Fetal Thymus	thymus
13	chr2:97064400-97064800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:97065000-97065200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:97065000-97065200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:97065000-97065400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
17	chr2:97065200-97065400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:97065200-97065400	Enhancers	Fetal Kidney	kidney
19	chr2:97065200-97065600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:97065200-97065800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:97065200-97066000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:97065200-97066000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:97065400-97065600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:97065400-97065600	Weak transcription	Gastric	stomach
25	chr2:97065400-97065600	Enhancers	Spleen	Spleen
26	chr2:97065400-97066400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:97065400-97066600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:97065600-97065800	Enhancers	Gastric	stomach
29	chr2:97065600-97065800	Enhancers	Pancreas	Pancrea
30	chr2:97065600-97073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:97065800-97066400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:97065800-97069400	Weak transcription	Pancreas	Pancrea
33	chr2:97065800-97073200	Weak transcription	Gastric	stomach
34	chr2:97065800-97073400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:97066000-97066200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:97066000-97066200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr2:97066000-97070200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:97066000-97070800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:97066200-97066400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:97066200-97073000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:97066400-97069200	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:97066400-97069200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:97066400-97069200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:97066600-97070400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links