Variant report

Variant	nsv522114
Chromosome Location	chr2:211619571-211765062
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
2	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:
3	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
4	chr1:17231812..17233115-chr2:211669787..211670787,3	HCT-116	colon:
5	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
6	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
7	chr17:57922098..57924197-chr2:211699892..211701526,2	MCF-7	breast:
8	chr1:17231485..17232131-chr2:211669767..211670267,2	Hela-S3	cervix:
9	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:

No data

Extended variants
information (count: 1788 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1788 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529081572	chr2:211627208-211627209	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4560046	chr2:211627227-211627228	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115432353	chr2:211627258-211627259	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375242729	chr2:211627307-211627308	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146838423	chr2:211627311-211627312	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537878989	chr2:211627319-211627320	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148975030	chr2:211627320-211627321	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568701138	chr2:211627326-211627327	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78411109	chr2:211627332-211627333	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554124167	chr2:211627335-211627336	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538278298	chr2:211627340-211627341	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577534799	chr2:211627383-211627384	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73078181	chr2:211627384-211627385	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193286854	chr2:211627446-211627447	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4672594	chr2:211627449-211627450	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs374645543	chr2:211627452-211627453	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35575445	chr2:211627463-211627464	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs67557307	chr2:211627516-211627517	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185459036	chr2:211627554-211627555	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189206612	chr2:211627559-211627560	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs544022291	chr2:211627636-211627637	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541318628	chr2:211627697-211627698	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564008424	chr2:211627725-211627726	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532997773	chr2:211627734-211627735	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549544830	chr2:211627737-211627738	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569057960	chr2:211627738-211627739	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373328782	chr2:211627740-211627741	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs150956862	chr2:211627780-211627781	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs140778818	chr2:211627782-211627783	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533912882	chr2:211627783-211627784	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs377156528	chr2:211627787-211627788	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116210822	chr2:211627811-211627812	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571144037	chr2:211627813-211627814	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73078183	chr2:211627836-211627837	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181585089	chr2:211627932-211627933	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184191345	chr2:211627952-211627953	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541915087	chr2:211628017-211628018	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs115677808	chr2:211628101-211628102	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2887930	chr2:211628123-211628124	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188738836	chr2:211628142-211628143	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181250627	chr2:211628145-211628146	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564069860	chr2:211628150-211628151	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs577515259	chr2:211628164-211628165	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150077535	chr2:211628226-211628227	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs563153946	chr2:211628263-211628264	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs549157956	chr2:211628317-211628318	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs548686062	chr2:211628318-211628319	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs186232274	chr2:211628380-211628381	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs2371073	chr2:211628390-211628391	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547789785	chr2:211628401-211628402	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211627200-211627400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
2	chr2:211627200-211627400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:211627200-211627800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:211627200-211627800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:211627200-211627800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:211627200-211627800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:211627200-211627800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:211627200-211628000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr2:211627200-211628000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:211627200-211628000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:211627200-211628600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:211627200-211628600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:211627200-211629400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:211627400-211627600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr2:211627400-211627800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:211627400-211628000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:211627400-211628200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:211627400-211628800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:211627600-211628400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:211627800-211628200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:211627800-211628200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:211628000-211628200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
23	chr2:211628000-211628400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:211628000-211628400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:211628200-211628400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr2:211628200-211628600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr2:211628200-211628600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:211628200-211628800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:211628200-211629000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:211628400-211628600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:211628400-211628800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:211628400-211628800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:211628400-211628800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr2:211628600-211629200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr2:211628600-211630600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:211628800-211630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:211628800-211633000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:211629000-211631000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:211630600-211631000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:211630800-211631000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr2:211630800-211631000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:211630800-211631200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:211631000-211631400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:211631000-211631600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:211631000-211632800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:211631200-211631400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:211631400-211632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:211632600-211634200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:211632800-211633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:211632800-211633600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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