Variant report

Variant	nsv829162
Chromosome Location	chr22:30276811-30298761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr22:30279479-30279812	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr22:30279600-30279919	GM12878	blood:	n/a	n/a
3	BHLHE40	chr22:30279106-30279791	K562	blood:	n/a	chr22:30279511-30279527
4	BHLHE40	chr22:30278918-30279151	GM12878	blood:	n/a	chr22:30279006-30279022 chr22:30279105-30279121
5	BRCA1	chr22:30279422-30279568	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr22:30279281-30279298	HepG2	liver:	n/a	n/a
7	BRCA1	chr22:30279225-30279344	GM12878	blood:	n/a	n/a
8	CCNT2	chr22:30278996-30279811	K562	blood:	n/a	chr22:30279052-30279061 chr22:30279470-30279479
9	CEBPB	chr22:30297366-30297631	K562	blood:	n/a	n/a
10	CEBPB	chr22:30291559-30291624	HepG2	liver:	n/a	chr22:30291581-30291592
11	CEBPB	chr22:30282643-30282930	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr22:30279056-30279292	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr22:30297362-30297676	K562	blood:	n/a	n/a
14	CEBPB	chr22:30291550-30291641	K562	blood:	n/a	chr22:30291581-30291592
15	CEBPB	chr22:30297405-30297626	K562	blood:	n/a	n/a
16	CEBPB	chr22:30282656-30282856	HepG2	liver:	n/a	n/a
17	CHD1	chr22:30279159-30279853	GM12878	blood:	n/a	chr22:30279597-30279607
18	CHD2	chr22:30279277-30279413	K562	blood:	n/a	n/a
19	CHD2	chr22:30279008-30279955	GM12878	blood:	n/a	chr22:30279597-30279607
20	CHD2	chr22:30278968-30279791	Hela-S3	cervix:	n/a	chr22:30279597-30279607
21	CHD2	chr22:30279226-30279565	HepG2	liver:	n/a	n/a
22	CREB1	chr22:30279307-30279629	A549	lung:	n/a	n/a
23	CTCF	chr22:30279447-30279544	GM10266	blood:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
24	CTCF	chr22:30279440-30279590	AG09319	gingival:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
25	CTCF	chr22:30279665-30279712	GM10266	blood:	n/a	n/a
26	CTCF	chr22:30279445-30279568	GM19239	blood:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
27	CTCF	chr22:30279340-30279490	HAc	cerebellar:	n/a	n/a
28	CTCF	chr22:30279460-30279610	GM12867	blood:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
29	CTCF	chr22:30279441-30279591	MCF-7	breast:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
30	CTCF	chr22:30279440-30279590	Caco-2	colon:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
31	CTCF	chr22:30279292-30279903	GM12878	blood:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
32	CTCF	chr22:30279460-30279610	WI-38	lung:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
33	CTCF	chr22:30279494-30279567	HepG2	liver:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
34	CTCF	chr22:30279400-30279550	MCF-7	breast:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
35	CTCF	chr22:30279400-30279550	AoAF	blood vessel:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
36	CTCF	chr22:30279420-30279570	NHDF-neo	bronchial:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
37	CTCF	chr22:30279486-30279568	H1-hESC	embryonic stem cell:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
38	CTCF	chr22:30279440-30279590	HPAF	blood vessel:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
39	CTCF	chr22:30279460-30279610	GM12875	blood:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
40	CTCF	chr22:30279688-30279817	ProgFib	skin:	n/a	n/a
41	CTCF	chr22:30279420-30279570	GM12864	blood:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
42	CTCF	chr22:30279424-30279590	MCF-7	breast:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
43	CTCF	chr22:30279342-30279901	IMR90	lung:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
44	CTCF	chr22:30279460-30279610	HA-sp	spinal cord:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
45	CTCF	chr22:30279440-30279590	HRPEpiC	eye:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
46	CTCF	chr22:30279480-30279630	HCPEpiC	choroid plexus:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
47	CTCF	chr22:30279400-30279550	AG09319	gingival:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
48	CTCF	chr22:30279460-30279610	HRE	kidney:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
49	CTCF	chr22:30279480-30279630	MCF-7	breast:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536
50	CTCF	chr22:30279460-30279610	HUVEC	blood vessel:	n/a	chr22:30279520-30279538 chr22:30279526-30279539 chr22:30279523-30279532 chr22:30279523-30279536

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30277391-30277441	AoSMC	blood vessel:	n/a
2	chr22:30279922-30279972	SK-N-SH	brain:	n/a
3	chr22:30279241-30279291	NHDF-neo	bronchial:	n/a
4	chr22:30279857-30279907	HEK293	kidney:	embryo
5	chr22:30277968-30278018	HepG2	liver:	n/a
6	chr22:30278992-30279042	GM19239	blood:	n/a
7	chr22:30278876-30278926	HepG2	liver:	n/a
8	chr22:30278994-30279044	HCT-116	colon:	n/a
9	chr22:30278992-30279042	AG10803	skin:	n/a
10	chr22:30279922-30279972	NB4	blood:	n/a
11	chr22:30283578-30283628	CMK	blood:	n/a
12	chr22:30283578-30283628	PFSK-1	brain:	n/a
13	chr22:30277391-30277441	NHDF-neo	bronchial:	n/a
14	chr22:30277391-30277441	LNCaP	prostate:	n/a
15	chr22:30277968-30278018	HIPEpiC	eye:	n/a
16	chr22:30279318-30279368	HepG2	liver:	n/a
17	chr22:30279857-30279907	IMR90	lung:	fetal
18	chr22:30278994-30279044	SK-N-SH_RA	brain:	n/a
19	chr22:30279318-30279368	Caco-2	colon:	n/a
20	chr22:30277391-30277441	AG10803	skin:	n/a
21	chr22:30277391-30277441	HRE	kidney:	n/a
22	chr22:30283578-30283628	GM06990	blood:	n/a
23	chr22:30278992-30279042	NB4	blood:	n/a
24	chr22:30279318-30279368	AG09319	gingival:	n/a
25	chr22:30279922-30279972	AG10803	skin:	n/a
26	chr22:30279922-30279972	HEEpiC	esophagus:	n/a
27	chr22:30279318-30279368	GM12891	blood:	n/a
28	chr22:30283578-30283628	HCPEpiC	choroid plexus:	n/a
29	chr22:30278994-30279044	GM06990	blood:	n/a
30	chr22:30278992-30279042	T-47D	breast:	n/a
31	chr22:30277968-30278018	Hela-S3	cervix:	n/a
32	chr22:30279241-30279291	BE2_C	brain:	n/a
33	chr22:30279922-30279972	GM19239	blood:	n/a
34	chr22:30278876-30278926	MCF10A-Er-Src	breast:	n/a
35	chr22:30283578-30283628	HCF	heart:	n/a
36	chr22:30279241-30279291	HIPEpiC	eye:	n/a
37	chr22:30279318-30279368	K562	blood:	n/a
38	chr22:30279922-30279972	AG04449	skin:	fetal
39	chr22:30277391-30277441	Hepatocyte	liver:	n/a
40	chr22:30279318-30279368	AG10803	skin:	n/a
41	chr22:30283578-30283628	ECC-1	luminal epithelium:	n/a
42	chr22:30279857-30279907	HRPEpiC	eye:	n/a
43	chr22:30279922-30279972	Hepatocyte	liver:	n/a
44	chr22:30277391-30277441	ovcar-3	ovarian:	n/a
45	chr22:30279318-30279368	HCM	heart:	n/a
46	chr22:30278994-30279044	PANC-1	pancreas:	n/a
47	chr22:30277391-30277441	HPAEpiC	pulmonary alveolar:	n/a
48	chr22:30278876-30278926	HPAEpiC	pulmonary alveolar:	n/a
49	chr22:30283578-30283628	ProgFib	skin:	n/a
50	chr22:30283578-30283628	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
2	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:
3	chr22:30298737..30301199-chr22:30301217..30303994,2	K562	blood:
4	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:
5	chr10:62193967..62194535-chr22:30279507..30280085,2	MCF-7	breast:
6	chr22:30294545..30297116-chr22:30298361..30301240,2	K562	blood:
7	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
8	chr22:30280125..30281940-chr22:30289079..30291294,2	MCF-7	breast:
9	chr22:30280125..30281940-chr22:30289079..30291294,2	MCF-7	breast:
10	chr22:30277721..30280339-chr22:30399364..30402748,3	K562	blood:
11	chr22:30289517..30291568-chr22:30301427..30303381,2	K562	blood:
12	chr22:30208243..30210090-chr22:30279066..30280884,2	MCF-7	breast:
13	chr22:30229506..30231085-chr22:30279535..30281040,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HORMAD2-6	chr22:30279168-30279348	NONHSAT084740

Variant related genes	Relation type
MTMR3	TF binding region
RNU6-331P	TF binding region
MTMR3	CpG island
RNU6-331P	CpG island
ENSG00000207455	chromatin interactions
ENSG00000100330	chromatin interactions
ENSG00000100325	chromatin interactions

Extended variants
information (count: 848 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185278449	chr22:30276817-30276818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151328372	chr22:30276818-30276819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560711182	chr22:30276835-30276836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527763918	chr22:30276901-30276902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538468147	chr22:30276915-30276916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111941401	chr22:30276986-30276987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549533247	chr22:30276989-30276990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34862234	chr22:30277066-30277067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12160803	chr22:30277107-30277108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549917741	chr22:30277203-30277204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571510839	chr22:30277211-30277212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35959210	chr22:30277216-30277217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58504380	chr22:30277244-30277245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545663869	chr22:30277250-30277251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547167554	chr22:30277292-30277293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182053542	chr22:30277347-30277348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536060728	chr22:30277350-30277351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147713325	chr22:30277375-30277376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576061374	chr22:30277410-30277411	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs77368086	chr22:30277423-30277424	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs35373269	chr22:30277483-30277484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558306487	chr22:30277529-30277530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115975134	chr22:30277531-30277532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545744305	chr22:30277534-30277535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536602580	chr22:30277573-30277574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560652486	chr22:30277654-30277655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572641096	chr22:30277655-30277656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190140581	chr22:30277667-30277668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146525922	chr22:30277676-30277677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531754150	chr22:30277680-30277681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554467391	chr22:30277681-30277682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182093740	chr22:30277685-30277686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186170210	chr22:30277723-30277724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7286103	chr22:30277780-30277781	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs190881131	chr22:30277824-30277825	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565661648	chr22:30277881-30277882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535997483	chr22:30277938-30277939	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs548090517	chr22:30277967-30277968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs4820823	chr22:30278019-30278020	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138749436	chr22:30278035-30278036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558500953	chr22:30278078-30278079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570386873	chr22:30278088-30278089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534616815	chr22:30278139-30278140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373888480	chr22:30278148-30278149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183982213	chr22:30278233-30278234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188932109	chr22:30278324-30278325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539032862	chr22:30278343-30278344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543235069	chr22:30278393-30278394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554912726	chr22:30278421-30278422	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528399447	chr22:30278423-30278424	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:839 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30268800-30277800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30268800-30279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30269000-30278800	Weak transcription	Adipose Nuclei	Adipose
4	chr22:30270200-30279200	Weak transcription	Spleen	Spleen
5	chr22:30274000-30278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:30274400-30278800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:30277400-30278800	Enhancers	HepG2	liver
8	chr22:30277800-30278600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:30278200-30278400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:30278400-30278600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30278400-30278800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr22:30278400-30278800	Enhancers	Primary B cells from cord blood	blood
13	chr22:30278400-30278800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr22:30278400-30278800	Enhancers	Brain Anterior Caudate	brain
15	chr22:30278400-30278800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr22:30278400-30279200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr22:30278400-30279200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr22:30278600-30278800	Enhancers	Primary B cells from peripheral blood	blood
19	chr22:30278600-30278800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr22:30278600-30278800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:30278600-30278800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:30278600-30278800	Enhancers	Dnd41	blood
23	chr22:30278600-30278800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr22:30278600-30279000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:30278600-30279000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:30278600-30279200	Active TSS	Brain Germinal Matrix	brain
27	chr22:30278600-30279800	Active TSS	Primary T cells from cord blood	blood
28	chr22:30278600-30279800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:30278600-30280000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:30278600-30280200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:30278600-30280400	Active TSS	Fetal Kidney	kidney
32	chr22:30278600-30280600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr22:30278600-30280600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:30278600-30280600	Active TSS	Fetal Brain Female	brain
35	chr22:30278600-30281400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr22:30278800-30279000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:30278800-30279000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:30278800-30279000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr22:30278800-30279000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:30278800-30279000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr22:30278800-30279000	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr22:30278800-30279000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr22:30278800-30279000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr22:30278800-30279000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr22:30278800-30279000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:30278800-30279000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:30278800-30279000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr22:30278800-30279000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:30278800-30279000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr22:30278800-30279000	Flanking Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links