Variant report

Variant	esv2759112
Chromosome Location	chr2:209472551-209551952
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:26)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209539963..209542308-chr2:209551023..209553001,2	K562	blood:
2	chr2:209539963..209542308-chr2:209551023..209553001,2	K562	blood:
3	chr2:209491119..209493117-chr2:209495604..209497671,2	MCF-7	breast:
4	chr2:209530769..209533042-chr2:209534899..209536830,2	K562	blood:
5	chr2:209500439..209502356-chr2:209506551..209509488,2	K562	blood:
6	chr2:209491119..209493117-chr2:209495604..209497671,2	MCF-7	breast:
7	chr2:209514239..209516812-chr2:209521942..209523618,2	K562	blood:
8	chr2:209479934..209482294-chr2:209490588..209493253,2	K562	blood:
9	chr2:209522358..209523062-chr2:209647609..209648423,2	MCF-7	breast:
10	chr2:209521522..209522845-chr2:210072588..210073484,4	MCF-7	breast:
11	chr2:209492449..209494054-chr2:209496864..209499184,3	K562	blood:
12	chr2:209479934..209482294-chr2:209490588..209493253,2	K562	blood:
13	chr2:209494353..209498041-chr2:209504325..209506664,3	K562	blood:
14	chr2:209492449..209494054-chr2:209496864..209499184,3	K562	blood:
15	chr2:209494353..209497016-chr2:209504325..209506664,2	K562	blood:
16	chr2:209339603..209341733-chr2:209501873..209504107,2	MCF-7	breast:
17	chr2:209500439..209502356-chr2:209506551..209509488,2	K562	blood:
18	chr2:209466529..209468922-chr2:209469771..209474091,3	K562	blood:
19	chr2:209494353..209497016-chr2:209504325..209506664,2	K562	blood:
20	chr2:209492337..209494303-chr2:209506162..209509003,2	K562	blood:
21	chr2:209514239..209516812-chr2:209521942..209523618,2	K562	blood:
22	chr2:209494353..209498041-chr2:209504325..209506664,3	K562	blood:
23	chr2:209492337..209494303-chr2:209506162..209509003,2	K562	blood:
24	chr2:209531542..209533754-chr2:209534899..209537562,2	K562	blood:
25	chr2:209530769..209533042-chr2:209534899..209536830,2	K562	blood:
26	chr2:209531542..209533754-chr2:209534899..209537562,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076647
2	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076648
3	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076645
4	lnc-PTH2R-1	chr2:209506966-209507101	NONHSAT076648
5	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076646

No data

Extended variants
information (count: 1613 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1613 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13018313	chr2:209472551-209472552	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs528129933	chr2:209472578-209472579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12694115	chr2:209472582-209472583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556671373	chr2:209472603-209472604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74869023	chr2:209472611-209472612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16841474	chr2:209472612-209472613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182140312	chr2:209472616-209472617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553204853	chr2:209472690-209472691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16841477	chr2:209472693-209472694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs147425432	chr2:209472700-209472701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565502567	chr2:209472718-209472719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140749462	chr2:209472723-209472724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544658497	chr2:209472733-209472734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561387084	chr2:209472763-209472764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531994479	chr2:209472768-209472769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6733352	chr2:209472769-209472770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs149777572	chr2:209472812-209472813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559674227	chr2:209472849-209472850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71041316	chr2:209472854-209472855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528436075	chr2:209472868-209472869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558066180	chr2:209472923-209472924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551267561	chr2:209472965-209472966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571457644	chr2:209472967-209472968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1429887	chr2:209473063-209473064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536869865	chr2:209473068-209473069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550233559	chr2:209473131-209473132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567026284	chr2:209473134-209473135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs5838130	chr2:209473215-209473216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535807269	chr2:209473216-209473217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200248833	chr2:209473230-209473231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186333311	chr2:209473261-209473262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573435136	chr2:209473265-209473266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6435467	chr2:209473267-209473268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4369800	chr2:209473277-209473278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559001933	chr2:209473290-209473291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80126080	chr2:209473294-209473295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377300161	chr2:209473306-209473307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114261139	chr2:209473316-209473317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191527321	chr2:209473330-209473331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182143552	chr2:209473350-209473351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527384127	chr2:209473360-209473361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202062055	chr2:209473361-209473362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567855111	chr2:209473363-209473364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79696884	chr2:209473371-209473372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540627058	chr2:209473445-209473446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560501875	chr2:209473450-209473451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145680386	chr2:209473463-209473464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186520268	chr2:209473469-209473470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148339004	chr2:209473504-209473505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565057639	chr2:209473553-209473554	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209469600-209473200	Weak transcription	Fetal Brain Male	brain
2	chr2:209472600-209473600	Enhancers	K562	blood
3	chr2:209473200-209473600	Enhancers	Fetal Brain Male	brain
4	chr2:209473200-209473600	Enhancers	Fetal Brain Female	brain
5	chr2:209473200-209473800	Enhancers	Stomach Mucosa	stomach
6	chr2:209473400-209474400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:209473600-209473800	Flanking Active TSS	K562	blood
8	chr2:209473800-209474400	Enhancers	Fetal Heart	heart
9	chr2:209473800-209474400	Enhancers	K562	blood
10	chr2:209474000-209474400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:209474400-209479600	Weak transcription	K562	blood
12	chr2:209474400-209480200	Weak transcription	Fetal Heart	heart
13	chr2:209479600-209479800	Enhancers	K562	blood
14	chr2:209479800-209480200	Weak transcription	K562	blood
15	chr2:209480200-209480400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:209480200-209480800	Enhancers	Fetal Heart	heart
17	chr2:209480200-209481200	Active TSS	K562	blood
18	chr2:209480400-209481000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:209480800-209482400	Weak transcription	Fetal Heart	heart
20	chr2:209481200-209482400	Weak transcription	K562	blood
21	chr2:209482400-209485400	Enhancers	Fetal Heart	heart
22	chr2:209482400-209485600	Enhancers	K562	blood
23	chr2:209484200-209485000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:209484400-209485000	Enhancers	Pancreas	Pancrea
25	chr2:209491400-209493000	Enhancers	K562	blood
26	chr2:209491800-209493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:209492400-209494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:209492600-209493800	Enhancers	Fetal Heart	heart
29	chr2:209493000-209493800	Weak transcription	K562	blood
30	chr2:209493800-209494600	Enhancers	K562	blood
31	chr2:209494200-209494600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:209494600-209495000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:209494600-209502400	Weak transcription	K562	blood
34	chr2:209494800-209495000	Enhancers	Fetal Kidney	kidney
35	chr2:209495000-209512800	Weak transcription	Fetal Kidney	kidney
36	chr2:209502400-209503400	Enhancers	K562	blood
37	chr2:209502800-209503600	Enhancers	Fetal Intestine Large	intestine
38	chr2:209503000-209503400	Enhancers	Fetal Intestine Small	intestine
39	chr2:209503400-209510000	Weak transcription	K562	blood
40	chr2:209508400-209509200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:209508800-209512600	Weak transcription	Fetal Heart	heart
42	chr2:209509000-209509400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:209509200-209510600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:209510600-209511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:209512000-209512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:209512600-209515000	Enhancers	Fetal Heart	heart
47	chr2:209512800-209513400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:209512800-209513600	Enhancers	Fetal Kidney	kidney
49	chr2:209535200-209535600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:209535600-209536000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links