Variant report

Variant	nsv522901
Chromosome Location	chr12:922408-968489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:782)
CpG islands
(count:61)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:925667-926004	K562	blood:	n/a	n/a
2	ARID3A	chr12:923400-923725	K562	blood:	n/a	n/a
3	ARID3A	chr12:925672-925952	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:923375-923763	HepG2	liver:	n/a	n/a
5	ATF2	chr12:932098-932901	GM12878	blood:	n/a	n/a
6	ATF2	chr12:932136-932907	GM12878	blood:	n/a	n/a
7	BACH1	chr12:927893-928274	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:922636-922643	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr12:927295-927341	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCLAF1	chr12:932077-932946	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:923498-923779	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:932240-932910	GM12878	blood:	n/a	n/a
13	BRCA1	chr12:961010-961407	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr12:923539-923579	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr12:923479-923707	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr12:952705-952732	IMR90	lung:	n/a	n/a
17	CEBPB	chr12:961066-961607	HCT-116	colon:	n/a	n/a
18	CEBPB	chr12:961188-961321	K562	blood:	n/a	n/a
19	CEBPB	chr12:945341-945579	A549	lung:	n/a	n/a
20	CEBPB	chr12:923371-923847	A549	lung:	n/a	n/a
21	CEBPB	chr12:967580-967798	HepG2	liver:	n/a	chr12:967721-967732
22	CEBPB	chr12:923383-923710	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:961097-961444	MCF-7	breast:	n/a	n/a
24	CEBPB	chr12:961066-961415	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr12:960963-961518	A549	lung:	n/a	n/a
26	CEBPB	chr12:961089-961462	K562	blood:	n/a	n/a
27	CEBPB	chr12:961146-961532	A549	lung:	n/a	n/a
28	CEBPB	chr12:961079-961471	IMR90	lung:	n/a	n/a
29	CEBPB	chr12:961091-961458	A549	lung:	n/a	n/a
30	CEBPB	chr12:961110-961450	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:961181-961374	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr12:961093-961396	MCF-7	breast:	n/a	n/a
33	CEBPB	chr12:961064-961495	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr12:923503-923660	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr12:961117-961428	K562	blood:	n/a	n/a
36	CEBPB	chr12:961074-961572	Hela-S3	cervix:	n/a	n/a
37	CHD1	chr12:932225-932966	GM12878	blood:	n/a	n/a
38	CHD2	chr12:923716-923777	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:923540-923690	HCM	heart:	n/a	chr12:923540-923548
40	CTCF	chr12:923440-923590	HVMF	connective:	n/a	chr12:923530-923551 chr12:923540-923548 chr12:923535-923553
41	CTCF	chr12:923800-923950	GM12878	blood:	n/a	n/a
42	CTCF	chr12:925633-925911	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr12:925720-925870	NB4	blood:	n/a	n/a
44	CTCF	chr12:923440-923590	HFF-Myc	foreskin:	n/a	chr12:923530-923551 chr12:923540-923548 chr12:923535-923553
45	CTCF	chr12:923480-923630	GM12873	blood:	n/a	chr12:923530-923551 chr12:923540-923548 chr12:923535-923553
46	CTCF	chr12:925661-925893	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr12:925740-925890	HL-60	blood:	n/a	n/a
48	CTCF	chr12:923380-923694	A549	lung:	n/a	chr12:923530-923551 chr12:923540-923548 chr12:923535-923553
49	CTCF	chr12:925740-925890	AG09319	gingival:	n/a	n/a
50	CTCF	chr12:925740-925890	HVMF	connective:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:966396-966446	NHBE	bronchial:	n/a
2	chr12:966396-966446	SAEC	small airway:	n/a
3	chr12:966396-966446	HRPEpiC	eye:	n/a
4	chr12:966396-966446	NH-A	brain:	n/a
5	chr12:966396-966446	NB4	blood:	n/a
6	chr12:966396-966446	SKMC	muscle:	n/a
7	chr12:966396-966446	AG10803	skin:	n/a
8	chr12:966396-966446	MCF10A-Er-Src	breast:	n/a
9	chr12:966396-966446	GM06990	blood:	n/a
10	chr12:966396-966446	HEK293	kidney:	embryo
11	chr12:966396-966446	AG09319	gingival:	n/a
12	chr12:966396-966446	HUVEC	blood vessel:	n/a
13	chr12:966396-966446	GM12891	blood:	n/a
14	chr12:966396-966446	Hepatocyte	liver:	n/a
15	chr12:966396-966446	LNCaP	prostate:	n/a
16	chr12:966396-966446	K562	blood:	n/a
17	chr12:966396-966446	T-47D	breast:	n/a
18	chr12:966396-966446	HCF	heart:	n/a
19	chr12:966396-966446	AG04450	lung:	fetal
20	chr12:966396-966446	PFSK-1	brain:	n/a
21	chr12:966396-966446	HNPCEpiC	eye:	n/a
22	chr12:966396-966446	HCM	heart:	n/a
23	chr12:966396-966446	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:966396-966446	HEEpiC	esophagus:	n/a
25	chr12:966396-966446	AoSMC	blood vessel:	n/a
26	chr12:966396-966446	BE2_C	brain:	n/a
27	chr12:966396-966446	A549	lung:	n/a
28	chr12:966396-966446	CMK	blood:	n/a
29	chr12:966396-966446	Hela-S3	cervix:	n/a
30	chr12:966396-966446	ovcar-3	ovarian:	n/a
31	chr12:966396-966446	AG04449	skin:	fetal
32	chr12:966396-966446	HCPEpiC	choroid plexus:	n/a
33	chr12:966396-966446	HepG2	liver:	n/a
34	chr12:966396-966446	SK-N-SH	brain:	n/a
35	chr12:966396-966446	GM19239	blood:	n/a
36	chr12:966396-966446	U87	brain:	n/a
37	chr12:966396-966446	HRE	kidney:	n/a
38	chr12:966396-966446	H1-hESC	embryonic stem cell:	embryo
39	chr12:966396-966446	BJ	skin:	n/a
40	chr12:966396-966446	IMR90	lung:	fetal
41	chr12:966396-966446	Caco-2	colon:	n/a
42	chr12:966396-966446	HL-60	blood:	n/a
43	chr12:966396-966446	ECC-1	luminal epithelium:	n/a
44	chr12:966396-966446	ProgFib	skin:	n/a
45	chr12:966396-966446	Jurkat	blood:	n/a
46	chr12:966396-966446	HAEpiC	amniotic membrane:	n/a
47	chr12:966396-966446	SK-N-MC	brain:	n/a
48	chr12:966396-966446	NHDF-neo	bronchial:	n/a
49	chr12:966396-966446	HCT-116	colon:	n/a
50	chr12:966396-966446	AG09309	skin:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:684994..685885-chr12:923018..923598,3	K562	blood:
2	chr12:925748..927383-chr12:929410..931068,2	K562	blood:
3	chr12:862452..864238-chr12:921433..923519,2	MCF-7	breast:
4	chr12:944261..946824-chr12:949779..951935,3	K562	blood:
5	chr12:562096..563077-chr12:923022..923690,2	MCF-7	breast:
6	chr12:919866..922717-chr12:940854..943432,2	K562	blood:
7	chr12:919866..922717-chr12:940854..943432,2	K562	blood:
8	chr12:966246..968511-chr12:980385..983217,2	K562	blood:
9	chr12:860770..863546-chr12:920587..924774,4	MCF-7	breast:
10	chr12:861880..864242-chr12:927799..930624,2	K562	blood:
11	chr12:951982..954213-chr12:955947..958050,2	K562	blood:
12	chr12:944261..946824-chr12:949779..951935,3	K562	blood:
13	chr12:676546..679499-chr12:924463..926278,2	K562	blood:
14	chr12:925748..927383-chr12:929410..931068,2	K562	blood:
15	chr12:931366..933731-chr12:938563..941138,2	K562	blood:
16	chr12:682408..684558-chr12:921412..923532,2	K562	blood:
17	chr12:919540..922758-chr12:931539..933937,3	K562	blood:
18	chr12:940142..943103-chr12:948785..951381,2	MCF-7	breast:
19	chr12:951982..954213-chr12:955947..958050,2	K562	blood:
20	chr12:679062..679815-chr12:923017..923659,4	K562	blood:
21	chr12:859941..860796-chr12:923020..923618,3	MCF-7	breast:
22	chr12:948574..950576-chr12:953003..955955,2	K562	blood:
23	chr12:863819..864324-chr12:923444..923987,2	K562	blood:
24	chr12:919540..922758-chr12:931539..933937,3	K562	blood:
25	chr12:860210..861203-chr12:922611..923577,2	Hela-S3	cervix:
26	chr12:497519..500271-chr12:922921..925641,2	K562	blood:
27	chr12:723315..723961-chr12:923260..924029,2	MCF-7	breast:
28	chr12:948574..950576-chr12:953003..955955,2	K562	blood:
29	chr12:938587..940780-chr12:942999..944640,2	K562	blood:
30	chr12:940142..943103-chr12:948785..951381,2	MCF-7	breast:

No data

Variant related genes	Relation type
WNK1	TF binding region
WNK1	CpG island
ENSG00000073614	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000060237	chromatin interactions

Extended variants
information (count: 1619 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1619 , 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	rs10774464	chr12:922408-922409	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151037902	chr12:922435-922436	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529349600	chr12:922442-922443	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376668111	chr12:922482-922483	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574299150	chr12:922509-922510	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534448465	chr12:922533-922534	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558872909	chr12:922551-922552	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577323860	chr12:922557-922558	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189272746	chr12:922568-922569	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563203132	chr12:922582-922583	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs578067725	chr12:922583-922584	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs118054540	chr12:922615-922616	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560545246	chr12:922624-922625	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527736206	chr12:922627-922628	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543126739	chr12:922658-922659	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181633215	chr12:922671-922672	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199740840	chr12:922834-922835	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576377217	chr12:922837-922838	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138325758	chr12:922882-922883	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200234585	chr12:922913-922914	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72648608	chr12:922926-922927	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs149628075	chr12:922951-922952	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs111396516	chr12:922961-922962	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs72648609	chr12:922963-922964	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs371166762	chr12:922987-922988	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs371344189	chr12:923001-923002	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373944196	chr12:923010-923011	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs72648610	chr12:923024-923025	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs72648611	chr12:923076-923077	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565693399	chr12:923099-923100	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs72648612	chr12:923116-923117	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs535934086	chr12:923172-923173	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs191373713	chr12:923201-923202	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs567837319	chr12:923202-923203	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs538487239	chr12:923224-923225	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs538159616	chr12:923242-923243	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs140929467	chr12:923245-923246	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs112750167	chr12:923248-923249	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs578239133	chr12:923254-923255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs545683661	chr12:923255-923256	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs149753990	chr12:923292-923293	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs572418029	chr12:923293-923294	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs528169706	chr12:923299-923300	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375509119	chr12:923303-923304	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs542734789	chr12:923309-923310	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs10774465	chr12:923311-923312	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs531396097	chr12:923324-923325	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs574507075	chr12:923359-923360	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs564741306	chr12:923364-923365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs532278276	chr12:923409-923410	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22844521	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1715 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:883800-923200	Weak transcription	Fetal Stomach	stomach
2	chr12:889400-927600	Weak transcription	Aorta	Aorta
3	chr12:899600-939200	Weak transcription	Pancreas	Pancrea
4	chr12:902400-924200	Weak transcription	HMEC	breast
5	chr12:905400-939200	Weak transcription	Esophagus	oesophagus
6	chr12:905400-957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:905400-970200	Weak transcription	Spleen	Spleen
8	chr12:909400-923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:910800-933000	Weak transcription	Right Atrium	heart
10	chr12:912000-922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:912000-923600	Weak transcription	Fetal Lung	lung
12	chr12:913000-923400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:913000-923400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:913000-939000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:913600-936000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:914400-971000	Weak transcription	Right Ventricle	heart
17	chr12:914600-923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:915800-927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:915800-935400	Weak transcription	NH-A	brain
20	chr12:916400-923800	Weak transcription	Fetal Intestine Large	intestine
21	chr12:916400-977200	Weak transcription	Gastric	stomach
22	chr12:916600-923400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:916600-927400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:916600-927400	Weak transcription	NHLF	lung
25	chr12:916600-932400	Weak transcription	Fetal Kidney	kidney
26	chr12:916600-936200	Weak transcription	Left Ventricle	heart
27	chr12:916800-923000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:916800-923200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:916800-923600	Weak transcription	Primary B cells from cord blood	blood
30	chr12:916800-923800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:916800-923800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:916800-924000	Weak transcription	Fetal Intestine Small	intestine
33	chr12:916800-955800	Weak transcription	Stomach Mucosa	stomach
34	chr12:917600-923600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:917600-924200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:917800-924200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:917800-932000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:918000-923800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:918200-923000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:919000-923600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:919200-923400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr12:919400-924000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:920000-926000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:920200-922800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:920200-922800	Weak transcription	Fetal Thymus	thymus
46	chr12:920200-923000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:920200-923200	Enhancers	Hela-S3	cervix
48	chr12:920200-923600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:920200-923800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:920200-924000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links