Variant report

Variant	esv32849
Chromosome Location	chr11:66059034-66060286
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	ATF2	chr11:66059433-66059860	H1-hESC	embryonic stem cell:	n/a	chr11:66059805-66059819 chr11:66059807-66059818
2	BHLHE40	chr11:66060189-66060701	HepG2	liver:	n/a	n/a
3	BHLHE40	chr11:66060249-66060579	GM12878	blood:	n/a	n/a
4	BHLHE40	chr11:66060240-66060618	K562	blood:	n/a	n/a
5	CREB1	chr11:66059343-66060115	H1-hESC	embryonic stem cell:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
6	CREB1	chr11:66059384-66059949	A549	lung:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
7	CREB1	chr11:66059472-66060012	H1-hESC	embryonic stem cell:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
8	EGR1	chr11:66059711-66059912	K562	blood:	n/a	chr11:66059862-66059875 chr11:66059862-66059872
9	EGR1	chr11:66059627-66059918	K562	blood:	n/a	chr11:66059862-66059875 chr11:66059862-66059872
10	EGR1	chr11:66060045-66060288	K562	blood:	n/a	chr11:66060193-66060204
11	HMGN3	chr11:66059891-66059996	K562	blood:	n/a	n/a
12	JUN	chr11:66059641-66059691	HepG2	liver:	n/a	chr11:66059669-66059682 chr11:66059673-66059682
13	JUN	chr11:66059651-66059847	H1-hESC	embryonic stem cell:	n/a	chr11:66059669-66059682 chr11:66059808-66059817 chr11:66059673-66059682
14	JUND	chr11:66059489-66059869	H1-hESC	embryonic stem cell:	n/a	chr11:66059808-66059817 chr11:66059673-66059682 chr11:66059572-66059581
15	JUND	chr11:66059499-66059849	HepG2	liver:	n/a	chr11:66059808-66059817 chr11:66059673-66059682 chr11:66059572-66059581
16	JUND	chr11:66059525-66059783	H1-hESC	embryonic stem cell:	n/a	chr11:66059673-66059682 chr11:66059572-66059581
17	MAX	chr11:66060262-66060591	K562	blood:	n/a	n/a
18	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
19	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr11:66059211-66059609	HCT-116	colon:	n/a	n/a
21	POLR2A	chr11:66059489-66059515	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:66059295-66059497	A549	lung:	n/a	n/a
23	POLR2A	chr11:66059340-66059374	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:66059296-66059456	A549	lung:	n/a	n/a
25	POLR2A	chr11:66059395-66059480	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:66059754-66060681	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr11:66058781-66059682	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr11:66059223-66059526	HCT-116	colon:	n/a	n/a
29	POLR2A	chr11:66059181-66059557	A549	lung:	n/a	n/a
30	REST	chr11:66058880-66059195	SK-N-SH	brain:	n/a	n/a
31	REST	chr11:66059029-66059857	H1-neurons	neurons:	n/a	chr11:66059419-66059432 chr11:66059287-66059300 chr11:66059358-66059371
32	SIN3A	chr11:66059130-66059136	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3A	chr11:66059450-66059943	H1-hESC	embryonic stem cell:	n/a	chr11:66059901-66059914 chr11:66059903-66059914 chr11:66059931-66059940
34	SIN3AK20	chr11:66059172-66059716	PANC-1	pancreas:	n/a	n/a
35	ZBTB7A	chr11:66059534-66060339	ECC-1	luminal epithelium:	n/a	n/a
36	ZBTB7A	chr11:66059388-66060267	ECC-1	luminal epithelium:	n/a	n/a
37	ZBTB7A	chr11:66059584-66059949	K562	blood:	n/a	n/a
38	ZBTB7A	chr11:66059608-66059770	HepG2	liver:	n/a	n/a
39	ZBTB7A	chr11:66059066-66059216	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66059798-66059848	SKMC	muscle:	n/a
2	chr11:66059129-66059179	HUVEC	blood vessel:	n/a
3	chr11:66059695-66059745	HNPCEpiC	eye:	n/a
4	chr11:66059695-66059745	HEEpiC	esophagus:	n/a
5	chr11:66059156-66059206	LNCaP	prostate:	n/a
6	chr11:66059599-66059649	SKMC	muscle:	n/a
7	chr11:66059129-66059179	H1-hESC	embryonic stem cell:	embryo
8	chr11:66059599-66059649	LNCaP	prostate:	n/a
9	chr11:66059129-66059179	MCF10A-Er-Src	breast:	n/a
10	chr11:66059164-66059214	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:66059695-66059745	SK-N-SH	brain:	n/a
12	chr11:66059129-66059179	PANC-1	pancreas:	n/a
13	chr11:66059798-66059848	PrEC	prostate:	n/a
14	chr11:66059164-66059214	AG10803	skin:	n/a
15	chr11:66059798-66059848	Jurkat	blood:	n/a
16	chr11:66059599-66059649	HCM	heart:	n/a
17	chr11:66059064-66059114	U87	brain:	n/a
18	chr11:66059599-66059649	PANC-1	pancreas:	n/a
19	chr11:66059064-66059114	HCPEpiC	choroid plexus:	n/a
20	chr11:66059156-66059206	GM12892	blood:	n/a
21	chr11:66059164-66059214	HepG2	liver:	n/a
22	chr11:66059695-66059745	NHBE	bronchial:	n/a
23	chr11:66059599-66059649	RPTEC	kidney:	n/a
24	chr11:66059599-66059649	HAEpiC	amniotic membrane:	n/a
25	chr11:66059695-66059745	HCT-116	colon:	n/a
26	chr11:66059599-66059649	BJ	skin:	n/a
27	chr11:66059798-66059848	GM06990	blood:	n/a
28	chr11:66059129-66059179	HIPEpiC	eye:	n/a
29	chr11:66059695-66059745	HEK293	kidney:	embryo
30	chr11:66059695-66059745	K562	blood:	n/a
31	chr11:66059156-66059206	HEK293	kidney:	embryo
32	chr11:66059164-66059214	HIPEpiC	eye:	n/a
33	chr11:66059064-66059114	HNPCEpiC	eye:	n/a
34	chr11:66059599-66059649	HNPCEpiC	eye:	n/a
35	chr11:66059164-66059214	H1-hESC	embryonic stem cell:	embryo
36	chr11:66059064-66059114	PFSK-1	brain:	n/a
37	chr11:66059064-66059114	Hela-S3	cervix:	n/a
38	chr11:66059798-66059848	HRE	kidney:	n/a
39	chr11:66059798-66059848	BJ	skin:	n/a
40	chr11:66059695-66059745	NH-A	brain:	n/a
41	chr11:66059129-66059179	NHDF-neo	bronchial:	n/a
42	chr11:66059129-66059179	HRPEpiC	eye:	n/a
43	chr11:66059064-66059114	SKMC	muscle:	n/a
44	chr11:66059064-66059114	HepG2	liver:	n/a
45	chr11:66059599-66059649	HEK293	kidney:	embryo
46	chr11:66059599-66059649	GM06990	blood:	n/a
47	chr11:66059599-66059649	GM12892	blood:	n/a
48	chr11:66059064-66059114	PrEC	prostate:	n/a
49	chr11:66059798-66059848	K562	blood:	n/a
50	chr11:66059599-66059649	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
2	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
3	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
4	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
5	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:

Variant related genes	Relation type
TMEM151A	TF binding region
YIF1A	TF binding region
TMEM151A	CpG island
YIF1A	CpG island
ENSG00000174903	chromatin interactions
ENSG00000174669	chromatin interactions
ENSG00000254762	chromatin interactions
ENSG00000174744	chromatin interactions
ENSG00000254458	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574316105	chr11:66059054-66059055	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs543082964	chr11:66059061-66059062	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs539554333	chr11:66059101-66059102	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs140223079	chr11:66059104-66059105	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs11227452	chr11:66059105-66059106	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs112089750	chr11:66059148-66059149	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs527939460	chr11:66059165-66059166	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs541766031	chr11:66059170-66059171	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs561431805	chr11:66059176-66059177	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs530300940	chr11:66059199-66059200	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs115512438	chr11:66059209-66059210	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs570048448	chr11:66059349-66059350	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs143463479	chr11:66059425-66059426	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs532681971	chr11:66059494-66059495	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs552250699	chr11:66059504-66059505	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs565739401	chr11:66059564-66059565	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs138823111	chr11:66059570-66059571	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs534577479	chr11:66059575-66059576	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs12795582	chr11:66059610-66059611	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs12795591	chr11:66059628-66059629	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs150934757	chr11:66059642-66059643	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372753220	chr11:66059742-66059743	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs536826198	chr11:66059761-66059762	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs6591210	chr11:66059782-66059783	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs576821381	chr11:66059798-66059799	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs545885674	chr11:66059831-66059832	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs552973153	chr11:66059844-66059845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs557647536	chr11:66059850-66059851	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs560517256	chr11:66059912-66059913	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs140761126	chr11:66059934-66059935	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs561542189	chr11:66059959-66059960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs530462631	chr11:66059962-66059963	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs543644985	chr11:66060053-66060054	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs370594680	chr11:66060184-66060185	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs529556878	chr11:66060222-66060223	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs202175630	chr11:66060243-66060244	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs113399864	chr11:66060244-66060245	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs559290204	chr11:66060285-66060286	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66057800-66059200	Weak transcription	Ovary	ovary
3	chr11:66058200-66059400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:66058400-66059200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:66058400-66059400	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr11:66058400-66059800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:66058400-66060200	Active TSS	Brain Substantia Nigra	brain
8	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix
10	chr11:66058600-66059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:66058600-66059800	Bivalent Enhancer	Placenta	Placenta
12	chr11:66058600-66060200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:66058600-66060400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:66058600-66060800	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
17	chr11:66058800-66059200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
19	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:66058800-66059200	Bivalent Enhancer	Liver	Liver
21	chr11:66058800-66059200	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr11:66058800-66059400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:66058800-66059400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr11:66058800-66059400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr11:66058800-66059400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:66058800-66059400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr11:66058800-66059600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr11:66058800-66059600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:66058800-66059600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr11:66058800-66060000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr11:66058800-66060200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:66058800-66060200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:66058800-66060200	Active TSS	Brain Anterior Caudate	brain
34	chr11:66058800-66060200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:66058800-66060200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr11:66058800-66060400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:66058800-66060400	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:66058800-66060400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:66058800-66060400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr11:66058800-66060600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:66058800-66060600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:66059000-66059200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr11:66059000-66059200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr11:66059000-66059200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:66059000-66059200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links