Variant report

Variant	nsv556858
Chromosome Location	chr12:291101-295145
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	BHLHE40	chr12:294714-295081	HepG2	liver:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294868-294877 chr12:294869-294878
2	BHLHE40	chr12:294691-295034	K562	blood:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294868-294877 chr12:294869-294878
3	CHD2	chr12:291781-291791	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:291500-291650	GM12878	blood:	n/a	n/a
5	E2F4	chr12:291874-292070	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr12:291474-292036	ECC-1	luminal epithelium:	n/a	n/a
7	EP300	chr12:291348-292077	ECC-1	luminal epithelium:	n/a	chr12:291400-291416
8	ESR1	chr12:294839-295037	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr12:294762-295125	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr12:294662-295210	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr12:294849-295101	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr12:291430-291973	ECC-1	luminal epithelium:	n/a	chr12:291750-291765
13	ESR1	chr12:291517-291957	ECC-1	luminal epithelium:	n/a	chr12:291750-291765
14	ESR1	chr12:291411-291990	ECC-1	luminal epithelium:	n/a	chr12:291750-291765
15	ESR1	chr12:291634-291905	ECC-1	luminal epithelium:	n/a	chr12:291750-291765
16	FOS	chr12:291814-292174	MCF10A-Er-Src	breast:	n/a	chr12:291990-292001 chr12:291990-292002 chr12:291992-292000
17	FOS	chr12:291806-292183	MCF10A-Er-Src	breast:	n/a	chr12:291990-292001 chr12:291990-292002 chr12:291992-292000
18	FOS	chr12:291818-292171	MCF10A-Er-Src	breast:	n/a	chr12:291990-292001 chr12:291990-292002 chr12:291992-292000
19	FOS	chr12:291833-292174	HUVEC	blood vessel:	n/a	chr12:291990-292001 chr12:291990-292002 chr12:291992-292000
20	FOS	chr12:291814-292169	MCF10A-Er-Src	breast:	n/a	chr12:291990-292001 chr12:291990-292002 chr12:291992-292000
21	FOSL1	chr12:291832-292071	K562	blood:	n/a	chr12:291990-292002 chr12:291992-292000
22	FOSL1	chr12:291666-292340	HCT-116	colon:	n/a	chr12:291990-292002 chr12:291992-292000
23	FOSL1	chr12:291715-292258	HCT-116	colon:	n/a	chr12:291990-292002 chr12:291992-292000
24	FOSL2	chr12:291679-292220	A549	lung:	n/a	chr12:291990-292002 chr12:291992-292000
25	FOSL2	chr12:291749-292106	SK-N-SH	brain:	n/a	chr12:291990-292002 chr12:291992-292000
26	FOSL2	chr12:291657-292303	SK-N-SH	brain:	n/a	chr12:291990-292002 chr12:291992-292000
27	FOSL2	chr12:291813-292055	A549	lung:	n/a	chr12:291990-292002 chr12:291992-292000
28	JUND	chr12:291702-292323	SK-N-SH	brain:	n/a	chr12:291990-292002 chr12:291992-292000
29	JUND	chr12:291674-292326	SK-N-SH	brain:	n/a	chr12:291990-292002 chr12:291992-292000
30	MAX	chr12:291845-292117	NB4	blood:	n/a	n/a
31	MAZ	chr12:291188-292528	IMR90	lung:	n/a	n/a
32	MYC	chr12:291790-292078	NB4	blood:	n/a	n/a
33	POLR2A	chr12:291847-291864	Gliobla	brain:	n/a	n/a
34	POLR2A	chr12:290642-291651	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr12:291869-291937	Gliobla	brain:	n/a	n/a
36	POLR2A	chr12:291805-292097	SK-N-SH	brain:	n/a	n/a
37	STAT3	chr12:291695-292021	MCF10A-Er-Src	breast:	n/a	chr12:291798-291809
38	STAT3	chr12:291742-291929	MCF10A-Er-Src	breast:	n/a	chr12:291798-291809
39	STAT3	chr12:291788-291909	MCF10A-Er-Src	breast:	n/a	chr12:291798-291809
40	TCF12	chr12:291277-292070	ECC-1	luminal epithelium:	n/a	n/a
41	TCF12	chr12:291282-292114	ECC-1	luminal epithelium:	n/a	n/a
42	USF1	chr12:294675-295072	ECC-1	luminal epithelium:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294867-294878 chr12:294868-294877 chr12:294869-294878
43	USF1	chr12:294777-294921	HepG2	liver:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294867-294878 chr12:294868-294877 chr12:294869-294878
44	USF2	chr12:294703-294743	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:291668-291718	AG04450	lung:	fetal
2	chr12:291668-291718	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:291668-291718	AoSMC	blood vessel:	n/a
4	chr12:291668-291718	SAEC	small airway:	n/a
5	chr12:291668-291718	HIPEpiC	eye:	n/a
6	chr12:291668-291718	Jurkat	blood:	n/a
7	chr12:291668-291718	GM12891	blood:	n/a
8	chr12:291668-291718	IMR90	lung:	fetal
9	chr12:291668-291718	BJ	skin:	n/a
10	chr12:291668-291718	HEK293	kidney:	embryo
11	chr12:291668-291718	Caco-2	colon:	n/a
12	chr12:291668-291718	K562	blood:	n/a
13	chr12:291668-291718	U87	brain:	n/a
14	chr12:291668-291718	SK-N-SH_RA	brain:	n/a
15	chr12:291668-291718	HAEpiC	amniotic membrane:	n/a
16	chr12:291668-291718	AG09319	gingival:	n/a
17	chr12:291668-291718	PFSK-1	brain:	n/a
18	chr12:291668-291718	AG04449	skin:	fetal
19	chr12:291668-291718	NH-A	brain:	n/a
20	chr12:291668-291718	HNPCEpiC	eye:	n/a
21	chr12:291668-291718	HRE	kidney:	n/a
22	chr12:291668-291718	HL-60	blood:	n/a
23	chr12:291668-291718	HEEpiC	esophagus:	n/a
24	chr12:291668-291718	HRCEpiC	kidney:	n/a
25	chr12:291668-291718	NB4	blood:	n/a
26	chr12:291668-291718	HRPEpiC	eye:	n/a
27	chr12:291668-291718	HCPEpiC	choroid plexus:	n/a
28	chr12:291668-291718	SK-N-SH	brain:	n/a
29	chr12:291668-291718	SKMC	muscle:	n/a
30	chr12:291668-291718	GM12878	blood:	n/a
31	chr12:291668-291718	NHDF-neo	bronchial:	n/a
32	chr12:291668-291718	HUVEC	blood vessel:	n/a
33	chr12:291668-291718	Hela-S3	cervix:	n/a
34	chr12:291668-291718	LNCaP	prostate:	n/a
35	chr12:291668-291718	HCM	heart:	n/a
36	chr12:291668-291718	NT2-D1	testis:	n/a
37	chr12:291668-291718	A549	lung:	n/a
38	chr12:291668-291718	MCF-7	breast:	n/a
39	chr12:291668-291718	GM12892	blood:	n/a
40	chr12:291668-291718	HepG2	liver:	n/a
41	chr12:291668-291718	AG10803	skin:	n/a
42	chr12:291668-291718	BE2_C	brain:	n/a
43	chr12:291668-291718	NHBE	bronchial:	n/a
44	chr12:291668-291718	PANC-1	pancreas:	n/a
45	chr12:291668-291718	PrEC	prostate:	n/a
46	chr12:291668-291718	H1-hESC	embryonic stem cell:	embryo
47	chr12:291668-291718	SK-N-MC	brain:	n/a
48	chr12:291668-291718	GM19239	blood:	n/a
49	chr12:291668-291718	ECC-1	luminal epithelium:	n/a
50	chr12:291668-291718	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:284257..286850-chr12:289241..291499,2	MCF-7	breast:
2	chr12:211691..214245-chr12:294558..297175,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC6A12-1	chr12:291234-291562	ENSG00000256540
2	lnc-SLC6A12-1	chr12:291234-291565	ENSG00000256540

Variant related genes	Relation type
ENSG00000256540	TF binding region
ENSG00000256540	CpG island
ENSG00000120645	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs216226	chr12:291101-291102	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139408096	chr12:291145-291146	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112347132	chr12:291241-291242	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs561826668	chr12:291261-291262	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs529027706	chr12:291262-291263	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs12300997	chr12:291287-291288	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182380162	chr12:291288-291289	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs539410431	chr12:291292-291293	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs551712331	chr12:291309-291310	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs537895292	chr12:291317-291318	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs186690702	chr12:291323-291324	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs76025086	chr12:291345-291346	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs533979418	chr12:291368-291369	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs556498656	chr12:291380-291381	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs573768297	chr12:291397-291398	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs201918859	chr12:291403-291404	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs191146949	chr12:291415-291416	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs145926736	chr12:291441-291442	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs377081128	chr12:291442-291443	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs373687935	chr12:291450-291451	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs557405619	chr12:291455-291456	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs372825444	chr12:291468-291469	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs545758155	chr12:291491-291492	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs541562792	chr12:291498-291499	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs564452112	chr12:291515-291516	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs183359616	chr12:291516-291517	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs369675403	chr12:291520-291521	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs536349568	chr12:291525-291526	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs542865578	chr12:291617-291618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs529466927	chr12:291668-291669	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs200850407	chr12:291712-291713	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs543993002	chr12:291715-291716	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs397825804	chr12:291716-291717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs562532778	chr12:291738-291739	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532966467	chr12:291739-291740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567875701	chr12:291780-291781	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs149625104	chr12:291809-291810	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs562715430	chr12:291819-291820	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527623488	chr12:291822-291823	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs549245749	chr12:291832-291833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567378500	chr12:291842-291843	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188910973	chr12:291905-291906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs61144307	chr12:291910-291911	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs58487822	chr12:291934-291935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539454239	chr12:291986-291987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76453552	chr12:292046-292047	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs546022730	chr12:292052-292053	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564418718	chr12:292090-292091	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs144316384	chr12:292106-292107	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs578261925	chr12:292128-292129	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:277200-292800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:282800-291200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:284200-292000	Enhancers	Right Atrium	heart
4	chr12:284200-292600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:285400-292200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:286200-291200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:286200-295800	Weak transcription	Liver	Liver
8	chr12:286200-298000	Weak transcription	Gastric	stomach
9	chr12:286800-291600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:288200-291800	Enhancers	Fetal Muscle Leg	muscle
11	chr12:288200-292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:288200-292800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:288400-291800	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:288400-295200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:288400-297800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:288600-291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:288800-291200	Weak transcription	HSMM	muscle
18	chr12:288800-291200	Weak transcription	Osteobl	bone
19	chr12:288800-297200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:289000-291200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:289000-291200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:289200-291600	Weak transcription	A549	lung
23	chr12:289200-297800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:289400-291200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:289600-291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:289600-298200	Weak transcription	HSMMtube	muscle
27	chr12:290000-292000	Weak transcription	Fetal Kidney	kidney
28	chr12:290000-297800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:290000-297800	Weak transcription	HUVEC	blood vessel
30	chr12:290000-298000	Weak transcription	Esophagus	oesophagus
31	chr12:290200-291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:290200-291200	Weak transcription	Spleen	Spleen
33	chr12:290200-291600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:290200-297800	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:290400-291200	Active TSS	Placenta	Placenta
36	chr12:290600-291200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr12:290600-291400	Bivalent/Poised TSS	Psoas Muscle	Psoas
38	chr12:290600-291600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:290800-291200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:290800-291200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr12:290800-291200	Active TSS	Left Ventricle	heart
42	chr12:290800-291200	Active TSS	Right Ventricle	heart
43	chr12:290800-291400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
44	chr12:290800-292000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:291000-291200	Enhancers	Pancreas	Pancrea
46	chr12:291000-292000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:291000-292000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr12:291000-292000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:291000-292400	Enhancers	NHLF	lung
50	chr12:291000-292600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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