Variant report

Variant	nsv1020805
Chromosome Location	chr9:220252-452134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2026)
CpG islands
(count:122)
Chromatin interactive
region (count:145)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2026 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:238911-239096	K562	blood:	n/a	n/a
2	ARID3A	chr9:229136-229466	K562	blood:	n/a	n/a
3	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
4	ARID3A	chr9:260270-260544	K562	blood:	n/a	n/a
5	ARID3A	chr9:272095-272522	K562	blood:	n/a	n/a
6	ARID3A	chr9:267916-268404	K562	blood:	n/a	n/a
7	ARID3A	chr9:272758-273406	K562	blood:	n/a	chr9:273064-273079
8	ARID3A	chr9:237608-238477	K562	blood:	n/a	n/a
9	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:250210-251866	K562	blood:	n/a	n/a
11	ATF1	chr9:270753-271026	K562	blood:	n/a	n/a
12	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
13	ATF1	chr9:222266-222777	K562	blood:	n/a	n/a
14	ATF1	chr9:272781-273161	K562	blood:	n/a	n/a
15	ATF1	chr9:272150-272512	K562	blood:	n/a	n/a
16	ATF1	chr9:249153-249485	K562	blood:	n/a	n/a
17	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
18	ATF2	chr9:272650-273286	GM12878	blood:	n/a	n/a
19	ATF2	chr9:297286-297859	GM12878	blood:	n/a	n/a
20	ATF2	chr9:272677-273240	GM12878	blood:	n/a	n/a
21	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr9:272081-272576	K562	blood:	n/a	n/a
23	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr9:297422-297902	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
25	BATF	chr9:278668-278987	GM12878	blood:	n/a	n/a
26	BATF	chr9:297420-297885	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
27	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCLAF1	chr9:297419-297950	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
29	BCLAF1	chr9:297343-297922	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
30	BCLAF1	chr9:307023-307293	GM12878	blood:	n/a	n/a
31	BCLAF1	chr9:272658-273387	GM12878	blood:	n/a	chr9:272862-272871
32	BCLAF1	chr9:272677-273191	GM12878	blood:	n/a	chr9:272862-272871
33	BHLHE40	chr9:272179-272510	K562	blood:	n/a	n/a
34	BHLHE40	chr9:297517-297717	K562	blood:	n/a	n/a
35	BHLHE40	chr9:259627-260475	K562	blood:	n/a	n/a
36	BHLHE40	chr9:270725-270976	GM12878	blood:	n/a	n/a
37	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
38	BHLHE40	chr9:237901-238275	K562	blood:	n/a	chr9:238023-238044
39	CBX3	chr9:272119-272641	K562	blood:	n/a	n/a
40	CBX3	chr9:229096-229480	K562	blood:	n/a	n/a
41	CCNT2	chr9:270745-270945	K562	blood:	n/a	n/a
42	CCNT2	chr9:272149-272834	K562	blood:	n/a	n/a
43	CCNT2	chr9:259682-260472	K562	blood:	n/a	chr9:259848-259868
44	CCNT2	chr9:237783-237946	K562	blood:	n/a	n/a
45	CCNT2	chr9:248915-249401	K562	blood:	n/a	n/a
46	CCNT2	chr9:251304-251801	K562	blood:	n/a	n/a
47	CCNT2	chr9:312627-313052	K562	blood:	n/a	n/a
48	CCNT2	chr9:373782-374327	K562	blood:	n/a	chr9:373878-373898
49	CCNT2	chr9:371246-371675	K562	blood:	n/a	n/a
50	CEBPB	chr9:291512-291644	IMR90	lung:	n/a	chr9:291560-291571

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:426894-426944	MCF10A-Er-Src	breast:	n/a
2	chr9:426894-426944	K562	blood:	n/a
3	chr9:273072-273122	SAEC	small airway:	n/a
4	chr9:273072-273122	NH-A	brain:	n/a
5	chr9:273072-273122	LNCaP	prostate:	n/a
6	chr9:426894-426944	RPTEC	kidney:	n/a
7	chr9:273072-273122	NHBE	bronchial:	n/a
8	chr9:273072-273122	ProgFib	skin:	n/a
9	chr9:426894-426944	HUVEC	blood vessel:	n/a
10	chr9:426894-426944	Caco-2	colon:	n/a
11	chr9:273072-273122	H1-hESC	embryonic stem cell:	embryo
12	chr9:273072-273122	PrEC	prostate:	n/a
13	chr9:273072-273122	AoSMC	blood vessel:	n/a
14	chr9:426894-426944	HRCEpiC	kidney:	n/a
15	chr9:273072-273122	K562	blood:	n/a
16	chr9:426894-426944	PFSK-1	brain:	n/a
17	chr9:273072-273122	PFSK-1	brain:	n/a
18	chr9:273072-273122	IMR90	lung:	fetal
19	chr9:273072-273122	AG09319	gingival:	n/a
20	chr9:273072-273122	HRE	kidney:	n/a
21	chr9:273072-273122	Jurkat	blood:	n/a
22	chr9:426894-426944	NT2-D1	testis:	n/a
23	chr9:273072-273122	MCF10A-Er-Src	breast:	n/a
24	chr9:426894-426944	HCM	heart:	n/a
25	chr9:273072-273122	GM12892	blood:	n/a
26	chr9:273072-273122	AG04449	skin:	fetal
27	chr9:273072-273122	NB4	blood:	n/a
28	chr9:273072-273122	NT2-D1	testis:	n/a
29	chr9:426894-426944	A549	lung:	n/a
30	chr9:273072-273122	BJ	skin:	n/a
31	chr9:273072-273122	AG10803	skin:	n/a
32	chr9:426894-426944	CMK	blood:	n/a
33	chr9:273072-273122	SK-N-SH	brain:	n/a
34	chr9:273072-273122	GM19239	blood:	n/a
35	chr9:426894-426944	NH-A	brain:	n/a
36	chr9:273072-273122	GM12891	blood:	n/a
37	chr9:426894-426944	HCF	heart:	n/a
38	chr9:426894-426944	HRPEpiC	eye:	n/a
39	chr9:426894-426944	HEK293	kidney:	embryo
40	chr9:426894-426944	GM12892	blood:	n/a
41	chr9:273072-273122	RPTEC	kidney:	n/a
42	chr9:273072-273122	SKMC	muscle:	n/a
43	chr9:273072-273122	Hepatocyte	liver:	n/a
44	chr9:426894-426944	BE2_C	brain:	n/a
45	chr9:426894-426944	AG09309	skin:	n/a
46	chr9:426894-426944	HPAEpiC	pulmonary alveolar:	n/a
47	chr9:426894-426944	AG10803	skin:	n/a
48	chr9:426894-426944	AG04450	lung:	fetal
49	chr9:426894-426944	MCF-7	breast:	n/a
50	chr9:273072-273122	HAEpiC	amniotic membrane:	n/a

(count:145 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:213603..216956-chr9:218226..220394,3	K562	blood:
2	chr9:243324..246093-chr9:246428..250809,6	K562	blood:
3	chr9:250806..252981-chr9:269858..272236,2	MCF-7	breast:
4	chr9:288365..290115-chr9:299185..301598,2	MCF-7	breast:
5	chr9:284961..287002-chr9:306876..309185,2	K562	blood:
6	chr9:247322..249745-chr9:277912..279940,2	K562	blood:
7	chr9:385494..386481-chr9:546680..547596,3	MCF-7	breast:
8	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
9	chr9:283346..286966-chr9:287946..290894,7	K562	blood:
10	chr9:270180..272736-chr9:272837..274435,2	K562	blood:
11	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
12	chr9:224171..226015-chr9:253370..255238,2	MCF-7	breast:
13	chr9:212545..218648-chr9:270340..281940,20	K562	blood:
14	chr9:288365..290115-chr9:299185..301598,2	MCF-7	breast:
15	chr9:303334..306488-chr9:313112..315414,3	MCF-7	breast:
16	chr9:277861..283096-chr9:291676..296273,5	K562	blood:
17	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
18	chr9:244363..245872-chr9:248878..250809,2	K562	blood:
19	chr9:235818..237375-chr9:247234..248835,2	K562	blood:
20	chr9:219964..222537-chr9:271277..273964,2	K562	blood:
21	chr9:227507..229537-chr9:238867..240547,2	K562	blood:
22	chr9:261493..264345-chr9:269680..272564,2	MCF-7	breast:
23	chr9:227507..229537-chr9:238867..240547,2	K562	blood:
24	chr9:237104..239333-chr9:240417..242425,2	K562	blood:
25	chr9:284961..287002-chr9:306876..309185,2	K562	blood:
26	chr9:213518..215162-chr9:305580..308186,2	K562	blood:
27	chr9:218197..221460-chr9:224650..228237,4	K562	blood:
28	chr9:240408..242135-chr9:247395..249007,2	MCF-7	breast:
29	chr9:223210..226112-chr9:277917..282090,3	K562	blood:
30	chr9:247322..249745-chr9:277912..279940,2	K562	blood:
31	chr9:255761..258409-chr9:263285..266102,2	K562	blood:
32	chr9:213589..216422-chr9:270983..274599,7	K562	blood:
33	chr9:276314..278461-chr9:285139..287718,2	K562	blood:
34	chr9:235818..237375-chr9:247234..248835,2	K562	blood:
35	chr9:275975..278627-chr9:279451..282123,3	K562	blood:
36	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
37	chr9:214778..216543-chr9:219574..221163,2	MCF-7	breast:
38	chr9:441366..444017-chr9:451304..454209,2	MCF-7	breast:
39	chr9:414319..416465-chr9:419585..421155,2	MCF-7	breast:
40	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
41	chr9:246731..252463-chr9:270869..275661,7	K562	blood:
42	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
43	chr9:224695..226653-chr9:227779..229816,2	K562	blood:
44	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
45	chr9:214044..216353-chr9:222371..224502,2	MCF-7	breast:
46	chr9:213410..215081-chr9:270583..272682,2	MCF-7	breast:
47	chr9:418287..419917-chr9:426635..429458,2	MCF-7	breast:
48	chr9:276287..280123-chr9:282139..284880,4	K562	blood:
49	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
50	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-1	chr9:272905-273002	ENSG00000235880.1
2	lnc-C9orf66-1	chr9:267966-268273	ENSG00000235880.1

No data

Variant related genes	Relation type
DOCK8	TF binding region
ENSG00000235880	TF binding region
C9orf66	TF binding region
DOCK8	CpG island
ENSG00000235880	CpG island
C9orf66	CpG island
ENSG00000235880	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000183784	chromatin interactions
ENSG00000226403	chromatin interactions

Extended variants
information (count: 12855 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:12855 , 50 per page) page: 1 2 3 4 5 6 7 ... 258

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542993836	chr9:220311-220312	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs561058593	chr9:220315-220316	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs187211194	chr9:220355-220356	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs372666212	chr9:220370-220371	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs75701573	chr9:220416-220417	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs151206292	chr9:220424-220425	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140391022	chr9:220425-220426	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs191632507	chr9:220439-220440	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs565744555	chr9:220451-220452	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs529749918	chr9:220461-220462	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs146997527	chr9:220489-220490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559801572	chr9:220498-220499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs183883759	chr9:220506-220507	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs567909301	chr9:220508-220509	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs138214925	chr9:220538-220539	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs556537216	chr9:220554-220555	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs189320137	chr9:220574-220575	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs143390565	chr9:220609-220610	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs578189449	chr9:220610-220611	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553886142	chr9:220632-220633	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs563498478	chr9:220688-220689	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs371891756	chr9:220713-220714	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs35143135	chr9:220717-220718	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs529210996	chr9:220719-220720	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs542914202	chr9:220720-220721	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs572187792	chr9:220732-220733	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs75832413	chr9:220733-220734	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12237966	chr9:220734-220735	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542703689	chr9:220755-220756	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs554939766	chr9:220758-220759	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs576319890	chr9:220760-220761	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs192257794	chr9:220779-220780	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs565147264	chr9:220808-220809	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113228580	chr9:220846-220847	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs541210997	chr9:220867-220868	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs559517876	chr9:220877-220878	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs113313236	chr9:220881-220882	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs149282671	chr9:220884-220885	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs569641255	chr9:220893-220894	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs369466926	chr9:220894-220895	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs533891748	chr9:220907-220908	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs144786178	chr9:220950-220951	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs372494919	chr9:220970-220971	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs571594772	chr9:221063-221064	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs538878423	chr9:221064-221065	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs547584104	chr9:221093-221094	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs113876767	chr9:221094-221095	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs553763609	chr9:221247-221248	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs565877285	chr9:221270-221271	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114653499	chr9:221300-221301	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Myelodysplastic syndrome	21251322	CNVD
Primary immunodeficiency	22942019	CNVD
Melanoma	20877625	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	21215367	CNVD
Renal cell carcinoma	21215367	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2888 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:215600-222000	Weak transcription	Gastric	stomach
2	chr9:215600-224400	Weak transcription	Spleen	Spleen
3	chr9:216200-225200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:216400-222000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:216400-222000	Weak transcription	Colonic Mucosa	Colon
6	chr9:216600-224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:216800-221000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:216800-224400	Weak transcription	Placenta	Placenta
9	chr9:217000-222000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:217000-225400	Enhancers	Adipose Nuclei	Adipose
11	chr9:217200-222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:217200-224400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:217400-222000	Weak transcription	GM12878-XiMat	blood
14	chr9:217400-222000	Weak transcription	K562	blood
15	chr9:217400-222800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:217400-224400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr9:217600-222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:217600-222000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr9:218000-221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:218000-222200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr9:218000-224400	Weak transcription	Pancreas	Pancrea
22	chr9:218200-222800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:219000-261400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:219400-220400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr9:219600-220600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr9:219600-221200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr9:219600-224600	Enhancers	Primary B cells from peripheral blood	blood
28	chr9:219800-220800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:219800-225800	Enhancers	Primary hematopoietic stem cells	blood
30	chr9:220000-220400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:220000-220400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr9:220000-221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:220200-221200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:220200-222400	Weak transcription	Stomach Mucosa	stomach
35	chr9:220200-222600	Enhancers	Primary B cells from cord blood	blood
36	chr9:220400-220600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:220400-221000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr9:220400-222200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:220600-221000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr9:220600-222000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:220800-223800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:221000-221200	Enhancers	Brain Anterior Caudate	brain
43	chr9:221000-221400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr9:221000-221400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:221000-221400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr9:221200-221800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:221200-224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:221400-222000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr9:221400-222000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr9:221400-223800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links