Variant report

Variant	nsv973947
Chromosome Location	chr12:1610077-1616803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:305)
Chromatin interactive
region (count:7)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:1612100-1612250	GM12872	blood:	n/a	n/a
2	CTCF	chr12:1611840-1611990	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr12:1613238-1613339	GM10248	blood:	n/a	n/a
4	CTCF	chr12:1612060-1612210	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr12:1612082-1612233	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:1612080-1612230	AG09309	skin:	n/a	n/a
7	CTCF	chr12:1612100-1612250	BJ	skin:	n/a	n/a
8	CTCF	chr12:1612107-1612222	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:1612080-1612230	AG09319	gingival:	n/a	n/a
10	CTCF	chr12:1612140-1612290	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr12:1612060-1612210	GM12872	blood:	n/a	n/a
12	CTCF	chr12:1612380-1612530	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr12:1614879-1615117	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:1614800-1615044	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:1614900-1615050	HepG2	liver:	n/a	n/a
16	CTCF	chr12:1612040-1612190	SAEC	small airway:	n/a	n/a
17	CTCF	chr12:1611980-1612130	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr12:1612100-1612250	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr12:1612060-1612210	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr12:1612122-1612204	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:1612080-1612230	A549	lung:	n/a	n/a
22	CTCF	chr12:1614982-1615003	HepG2	liver:	n/a	n/a
23	CTCF	chr12:1612120-1612270	AG10803	skin:	n/a	n/a
24	CTCF	chr12:1612140-1612290	GM12866	blood:	n/a	n/a
25	CTCF	chr12:1612160-1612310	AG09319	gingival:	n/a	n/a
26	CTCF	chr12:1612080-1612230	AG10803	skin:	n/a	n/a
27	CTCF	chr12:1614881-1615014	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:1612120-1612270	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr12:1612448-1612608	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:1612040-1612190	GM12864	blood:	n/a	n/a
31	HMGN3	chr12:1609210-1610304	K562	blood:	n/a	n/a
32	JUN	chr12:1609109-1610314	K562	blood:	n/a	n/a
33	KAP1	chr12:1610885-1611272	K562	blood:	n/a	n/a
34	POLR2A	chr12:1609228-1610248	K562	blood:	n/a	n/a
35	POLR2A	chr12:1610955-1611138	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:1616245-1616294	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:1609284-1610200	K562	blood:	n/a	n/a
38	POLR2A	chr12:1616217-1616241	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:1611101-1611469	K562	blood:	n/a	n/a
40	RAD21	chr12:1614718-1615145	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr12:1611982-1612257	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr12:1614858-1615058	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr12:1611923-1612655	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr12:1614835-1615045	H1-hESC	embryonic stem cell:	n/a	n/a
45	SPI1	chr12:1613380-1613887	HL-60	blood:	n/a	chr12:1613643-1613652 chr12:1613641-1613654
46	USF2	chr12:1611030-1611130	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZEB1	chr12:1613807-1613987	GM12878	blood:	n/a	chr12:1613881-1613890 chr12:1613852-1613861
48	ZMIZ1	chr12:1610074-1610101	K562	blood:	n/a	n/a
49	ZNF143	chr12:1610942-1611147	K562	blood:	n/a	n/a
50	ZNF263	chr12:1608987-1610149	K562	blood:	n/a	chr12:1609589-1609598 chr12:1609677-1609686 chr12:1609278-1609287

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1612770-1612820	SAEC	small airway:	n/a
2	chr12:1614380-1614430	NHBE	bronchial:	n/a
3	chr12:1614380-1614430	NH-A	brain:	n/a
4	chr12:1614439-1614489	AG09319	gingival:	n/a
5	chr12:1614439-1614489	K562	blood:	n/a
6	chr12:1614439-1614489	IMR90	lung:	fetal
7	chr12:1612770-1612820	MCF10A-Er-Src	breast:	n/a
8	chr12:1612770-1612820	HCF	heart:	n/a
9	chr12:1612672-1612722	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:1612664-1612714	ovcar-3	ovarian:	n/a
11	chr12:1612770-1612820	HCPEpiC	choroid plexus:	n/a
12	chr12:1612672-1612722	Jurkat	blood:	n/a
13	chr12:1612672-1612722	HIPEpiC	eye:	n/a
14	chr12:1614439-1614489	ProgFib	skin:	n/a
15	chr12:1614380-1614430	T-47D	breast:	n/a
16	chr12:1612664-1612714	HepG2	liver:	n/a
17	chr12:1614380-1614430	HCF	heart:	n/a
18	chr12:1612664-1612714	PFSK-1	brain:	n/a
19	chr12:1612770-1612820	GM12878	blood:	n/a
20	chr12:1614380-1614430	MCF10A-Er-Src	breast:	n/a
21	chr12:1612664-1612714	IMR90	lung:	fetal
22	chr12:1612664-1612714	NB4	blood:	n/a
23	chr12:1612770-1612820	PANC-1	pancreas:	n/a
24	chr12:1612664-1612714	AG09319	gingival:	n/a
25	chr12:1612664-1612714	PANC-1	pancreas:	n/a
26	chr12:1612672-1612722	LNCaP	prostate:	n/a
27	chr12:1612664-1612714	U87	brain:	n/a
28	chr12:1612664-1612714	Hepatocyte	liver:	n/a
29	chr12:1612672-1612722	AG10803	skin:	n/a
30	chr12:1612770-1612820	AG04449	skin:	fetal
31	chr12:1612672-1612722	NH-A	brain:	n/a
32	chr12:1612770-1612820	AG10803	skin:	n/a
33	chr12:1612672-1612722	NB4	blood:	n/a
34	chr12:1612672-1612722	HAEpiC	amniotic membrane:	n/a
35	chr12:1612672-1612722	PANC-1	pancreas:	n/a
36	chr12:1612672-1612722	HCT-116	colon:	n/a
37	chr12:1612672-1612722	SK-N-SH_RA	brain:	n/a
38	chr12:1612664-1612714	Caco-2	colon:	n/a
39	chr12:1612770-1612820	HRE	kidney:	n/a
40	chr12:1614439-1614489	HAEpiC	amniotic membrane:	n/a
41	chr12:1612672-1612722	GM19239	blood:	n/a
42	chr12:1614439-1614489	SAEC	small airway:	n/a
43	chr12:1614439-1614489	AG09309	skin:	n/a
44	chr12:1612672-1612722	HUVEC	blood vessel:	n/a
45	chr12:1614380-1614430	Caco-2	colon:	n/a
46	chr12:1614439-1614489	Hela-S3	cervix:	n/a
47	chr12:1612770-1612820	NH-A	brain:	n/a
48	chr12:1612770-1612820	PrEC	prostate:	n/a
49	chr12:1614380-1614430	AG09309	skin:	n/a
50	chr12:1614380-1614430	HPAEpiC	pulmonary alveolar:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1611483..1613501-chr12:1625253..1627123,2	K562	blood:
2	chr12:1603741..1607368-chr12:1607408..1611728,5	K562	blood:
3	chr12:1598160..1599823-chr12:1609239..1611026,2	K562	blood:
4	chr12:1603741..1607368-chr12:1607408..1611542,6	K562	blood:
5	chr12:1608089..1610158-chr12:1624609..1627312,2	K562	blood:
6	chr12:1609960..1612455-chr12:1612690..1615017,2	K562	blood:
7	chr12:1609960..1612455-chr12:1612690..1615017,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERC1-1	chr12:1611633-1613590	XLOC_009615
2	lnc-ERC1-1	chr12:1615325-1616484	ENSG00000249628
3	lnc-ERC1-1	chr12:1615336-1616484	NONHSAT025400
4	lnc-ERC1-1	chr12:1615339-1616484	XLOC_009615
5	lnc-FBXL14-1	chr12:1611627-1612636	ENSG00000249628
6	lnc-ERC1-1	chr12:1611633-1612648	XLOC_009615
7	lnc-FBXL14-1	chr12:1615325-1616484	ENSG00000249628
8	lnc-ERC1-1	chr12:1612440-1613590	NONHSAT025399
9	lnc-ERC1-1	chr12:1615339-1616484	ENSG00000249628
10	lnc-ERC1-1	chr12:1611633-1612648	ENSG00000249628
11	lnc-ERC1-1	chr12:1611627-1612636	ENSG00000249628

No data

Variant related genes	Relation type
LINC00942	TF binding region
LINC00942	CpG island
PRPF4B	miRNA target sites
RNMT	miRNA target sites
PTPRK	miRNA target sites
ATP8A2	miRNA target sites
PDCD10	miRNA target sites

Extended variants
information (count: 345 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533024436	chr12:1610102-1610103	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs562516747	chr12:1610104-1610105	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs550510626	chr12:1610130-1610131	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs192851168	chr12:1610146-1610147	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs76437063	chr12:1610163-1610164	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs115121332	chr12:1610172-1610173	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs73041284	chr12:1610178-1610179	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs556159488	chr12:1610181-1610182	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs577732334	chr12:1610201-1610202	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs368334242	chr12:1610249-1610250	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs2057797	chr12:1610253-1610254	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11061784	chr12:1610260-1610261	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369250191	chr12:1610359-1610360	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs183393344	chr12:1610380-1610381	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs187928632	chr12:1610383-1610384	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs6144584	chr12:1610407-1610408	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs58393377	chr12:1610417-1610418	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs11061785	chr12:1610418-1610419	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs11061786	chr12:1610419-1610420	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs373846672	chr12:1610430-1610431	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs376740721	chr12:1610440-1610441	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs112944556	chr12:1610445-1610446	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs374954931	chr12:1610452-1610453	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs5795972	chr12:1610457-1610458	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs529330440	chr12:1610499-1610500	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs553243949	chr12:1610526-1610527	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs187969602	chr12:1610555-1610556	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs1985903	chr12:1610556-1610557	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1985902	chr12:1610638-1610639	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs556988170	chr12:1610651-1610652	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs115738918	chr12:1610662-1610663	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs1985901	chr12:1610677-1610678	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527633042	chr12:1610684-1610685	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs548859541	chr12:1610685-1610686	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs567468305	chr12:1610748-1610749	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs148088043	chr12:1610779-1610780	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs556269569	chr12:1610825-1610826	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369231138	chr12:1610833-1610834	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7296006	chr12:1610863-1610864	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140914947	chr12:1610867-1610868	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76811368	chr12:1610926-1610927	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs929315	chr12:1610934-1610935	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10848501	chr12:1610964-1610965	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112803961	chr12:1611003-1611004	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs11611443	chr12:1611024-1611025	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573918805	chr12:1611050-1611051	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs544432512	chr12:1611106-1611107	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs929316	chr12:1611107-1611108	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533294751	chr12:1611142-1611143	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192538383	chr12:1611149-1611150	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	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
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
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1598400-1610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:1598400-1610800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:1600800-1612600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:1600800-1613600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:1602200-1611400	Weak transcription	Fetal Brain Female	brain
6	chr12:1602200-1613800	Weak transcription	Primary B cells from cord blood	blood
7	chr12:1603400-1611400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:1603600-1611200	Weak transcription	Brain Germinal Matrix	brain
9	chr12:1604800-1613400	Weak transcription	Primary T cells from cord blood	blood
10	chr12:1605000-1611600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:1605000-1611800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:1606000-1611200	Weak transcription	Colonic Mucosa	Colon
13	chr12:1606000-1611200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:1606200-1611000	Weak transcription	Fetal Lung	lung
15	chr12:1606200-1611400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:1606200-1611800	Weak transcription	NHEK	skin
17	chr12:1606400-1611000	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:1607200-1611800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:1607200-1613800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:1607400-1611200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:1607600-1610800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:1608400-1610200	Enhancers	NHDF-Ad	bronchial
23	chr12:1608400-1610600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:1608400-1613000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr12:1608800-1610200	Enhancers	NHLF	lung
26	chr12:1608800-1610400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:1608800-1618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:1609200-1610200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:1609200-1610200	Flanking Active TSS	K562	blood
30	chr12:1609200-1611200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:1609400-1610200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:1609400-1611600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:1609400-1612200	Enhancers	Fetal Muscle Leg	muscle
34	chr12:1609600-1610200	Flanking Active TSS	HSMMtube	muscle
35	chr12:1609600-1610800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:1609600-1611800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:1609600-1613400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:1609800-1610200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:1609800-1610600	Weak transcription	Brain Substantia Nigra	brain
40	chr12:1609800-1610800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:1609800-1610800	Weak transcription	Fetal Stomach	stomach
42	chr12:1609800-1610800	Weak transcription	Spleen	Spleen
43	chr12:1609800-1611400	Weak transcription	Brain Anterior Caudate	brain
44	chr12:1609800-1612400	Weak transcription	Esophagus	oesophagus
45	chr12:1609800-1613400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:1609800-1613600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:1610000-1610200	Enhancers	A549	lung
48	chr12:1610000-1610400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr12:1610000-1611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:1610000-1611000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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