Variant report

Variant	esv3399639
Chromosome Location	chr11:64057076-64061574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:915)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:64059313-64059703	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr11:64059512-64059782	GM12878	blood:	n/a	chr11:64059701-64059717
3	CTBP2	chr11:64058361-64059911	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:64058440-64058590	AG04449	skin:	n/a	n/a
5	EBF1	chr11:64059419-64059766	GM12878	blood:	n/a	n/a
6	EGR1	chr11:64059559-64059739	GM12878	blood:	n/a	chr11:64059637-64059647 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705
7	EGR1	chr11:64059482-64059869	ECC-1	luminal epithelium:	n/a	chr11:64059637-64059647 chr11:64059548-64059558 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705 chr11:64059501-64059523
8	EGR1	chr11:64059286-64059750	K562	blood:	n/a	chr11:64059637-64059647 chr11:64059548-64059558 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705 chr11:64059501-64059523 chr11:64059348-64059358
9	FOS	chr11:64058180-64058303	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:64058106-64058345	MCF10A-Er-Src	breast:	n/a	n/a
11	GABPA	chr11:64058729-64059312	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA2	chr11:64058675-64059033	SH-SY5Y	brain:	n/a	n/a
13	JUND	chr11:64058505-64058690	H1-hESC	embryonic stem cell:	n/a	chr11:64058638-64058652
14	MXI1	chr11:64059169-64059899	IMR90	lung:	n/a	n/a
15	MXI1	chr11:64058325-64060172	SK-N-SH	brain:	n/a	n/a
16	MYC	chr11:64059551-64059564	MCF-7	breast:	n/a	n/a
17	MYC	chr11:64059420-64059535	MCF-7	breast:	n/a	n/a
18	MYC	chr11:64059568-64059570	MCF-7	breast:	n/a	n/a
19	MYC	chr11:64059543-64059546	MCF-7	breast:	n/a	n/a
20	PAX5	chr11:64059219-64059752	GM12892	blood:	n/a	chr11:64059392-64059411
21	POLR2A	chr11:64058407-64058609	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:64058426-64058486	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:64060742-64060793	K562	blood:	n/a	n/a
24	POLR2A	chr11:64058881-64059938	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr11:64057742-64058038	K562	blood:	n/a	n/a
26	POLR2A	chr11:64057920-64057941	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:64058882-64060134	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr11:64057914-64058973	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr11:64058295-64058477	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:64057818-64058202	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:64056632-64057120	K562	blood:	n/a	n/a
32	POLR2A	chr11:64060807-64060818	K562	blood:	n/a	n/a
33	REST	chr11:64059157-64059995	H1-neurons	neurons:	n/a	chr11:64059816-64059829 chr11:64059881-64059894
34	STAT3	chr11:64058102-64058393	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr11:64058093-64058391	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr11:64058138-64058370	MCF10A-Er-Src	breast:	n/a	n/a
37	SUZ12	chr11:64058751-64061073	H1-hESC	embryonic stem cell:	n/a	n/a
38	SUZ12	chr11:64058028-64060943	NT2-D1	testis:	n/a	n/a
39	ZBTB7A	chr11:64059038-64059171	K562	blood:	n/a	n/a
40	ZNF263	chr11:64058517-64058636	HEK293-T-REx	kidney:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64058878-64058928	AG04450	lung:	fetal
2	chr11:64057807-64057857	HCM	heart:	n/a
3	chr11:64057771-64057821	ECC-1	luminal epithelium:	n/a
4	chr11:64059453-64059503	H1-hESC	embryonic stem cell:	embryo
5	chr11:64058878-64058928	HepG2	liver:	n/a
6	chr11:64058878-64058928	MCF-7	breast:	n/a
7	chr11:64060409-64060459	NT2-D1	testis:	n/a
8	chr11:64058937-64058987	MCF-7	breast:	n/a
9	chr11:64059937-64059987	Hepatocyte	liver:	n/a
10	chr11:64059453-64059503	AG04449	skin:	fetal
11	chr11:64058550-64058600	GM19239	blood:	n/a
12	chr11:64057807-64057857	HCF	heart:	n/a
13	chr11:64059054-64059104	SK-N-SH	brain:	n/a
14	chr11:64059916-64059966	GM06990	blood:	n/a
15	chr11:64059054-64059104	H1-hESC	embryonic stem cell:	embryo
16	chr11:64059479-64059529	HUVEC	blood vessel:	n/a
17	chr11:64058937-64058987	MCF10A-Er-Src	breast:	n/a
18	chr11:64058704-64058754	CMK	blood:	n/a
19	chr11:64057771-64057821	AoSMC	blood vessel:	n/a
20	chr11:64057771-64057821	T-47D	breast:	n/a
21	chr11:64059307-64059357	PrEC	prostate:	n/a
22	chr11:64059479-64059529	H1-hESC	embryonic stem cell:	embryo
23	chr11:64059937-64059987	GM19239	blood:	n/a
24	chr11:64059937-64059987	BJ	skin:	n/a
25	chr11:64059937-64059987	AG04450	lung:	fetal
26	chr11:64059453-64059503	HCF	heart:	n/a
27	chr11:64059054-64059104	AG09319	gingival:	n/a
28	chr11:64058550-64058600	NB4	blood:	n/a
29	chr11:64057807-64057857	ECC-1	luminal epithelium:	n/a
30	chr11:64058704-64058754	Jurkat	blood:	n/a
31	chr11:64059057-64059107	HEK293	kidney:	embryo
32	chr11:64060409-64060459	SAEC	small airway:	n/a
33	chr11:64059916-64059966	Jurkat	blood:	n/a
34	chr11:64058878-64058928	H1-hESC	embryonic stem cell:	embryo
35	chr11:64058937-64058987	NB4	blood:	n/a
36	chr11:64059479-64059529	Hepatocyte	liver:	n/a
37	chr11:64059453-64059503	BJ	skin:	n/a
38	chr11:64058878-64058928	AG09319	gingival:	n/a
39	chr11:64059594-64059644	Jurkat	blood:	n/a
40	chr11:64057771-64057821	HepG2	liver:	n/a
41	chr11:64059594-64059644	SK-N-MC	brain:	n/a
42	chr11:64058550-64058600	HEEpiC	esophagus:	n/a
43	chr11:64059453-64059503	HMEC	breast:	n/a
44	chr11:64057771-64057821	SK-N-SH_RA	brain:	n/a
45	chr11:64059307-64059357	ECC-1	luminal epithelium:	n/a
46	chr11:64059479-64059529	HCT-116	colon:	n/a
47	chr11:64059937-64059987	A549	lung:	n/a
48	chr11:64057771-64057821	ProgFib	skin:	n/a
49	chr11:64060409-64060459	NHBE	bronchial:	n/a
50	chr11:64059054-64059104	BJ	skin:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64058435..64061008-chr11:64080225..64081908,2	K562	blood:
2	chr11:64021477..64024375-chr11:64060158..64061742,2	MCF-7	breast:
3	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
4	chr11:64013373..64015770-chr11:64059905..64062431,2	MCF-7	breast:
5	chr11:64013225..64015116-chr11:64056938..64059333,2	MCF-7	breast:
6	chr11:63973628..63976272-chr11:64056827..64059574,2	MCF-7	breast:
7	chr11:64006794..64010904-chr11:64055205..64058214,4	MCF-7	breast:
8	chr11:64046688..64048904-chr11:64060394..64063372,2	MCF-7	breast:
9	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
10	chr11:64012590..64014829-chr11:64057902..64059525,2	MCF-7	breast:
11	chr11:64028329..64041732-chr11:64049023..64058851,39	MCF-7	breast:
12	chr11:63977636..63979457-chr11:64056171..64057684,2	MCF-7	breast:
13	chr11:64035819..64037712-chr11:64056886..64059211,2	MCF-7	breast:
14	chr11:64017360..64020043-chr11:64060077..64062122,2	MCF-7	breast:
15	chr11:64011811..64014800-chr11:64054845..64057591,2	MCF-7	breast:
16	chr11:64015797..64019000-chr11:64055834..64058652,3	MCF-7	breast:
17	chr11:64033188..64045448-chr11:64059274..64075790,38	MCF-7	breast:
18	chr11:63993205..63994873-chr11:64060700..64063524,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNK4-1	chr11:64058774-64059038	NONHSAT021980

No data

Variant related genes	Relation type
KCNK4	TF binding region
ENSG00000257069	TF binding region
ENSG00000207024	TF binding region
BAD	TF binding region
KCNK4	CpG island
ENSG00000257069	CpG island
ENSG00000207024	CpG island
BAD	CpG island
ENSG00000257086	chromatin interactions
ENSG00000149743	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000149761	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000002330	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12794369	chr11:64057082-64057083	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
2	rs687424	chr11:64057111-64057112	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11231744	chr11:64057117-64057118	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs551102387	chr11:64057121-64057122	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs571193099	chr11:64057200-64057201	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs150422226	chr11:64057211-64057212	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs567200328	chr11:64057238-64057239	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs547473670	chr11:64057242-64057243	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs116806304	chr11:64057251-64057252	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs532750285	chr11:64057272-64057273	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs536447676	chr11:64057309-64057310	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs61886865	chr11:64057327-64057328	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs566691354	chr11:64057350-64057351	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs201361024	chr11:64057368-64057369	Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs34891968	chr11:64057441-64057442	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs544758519	chr11:64057477-64057478	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs556524662	chr11:64057514-64057515	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs192052155	chr11:64057557-64057558	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs183056922	chr11:64057564-64057565	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs552537056	chr11:64057575-64057576	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs202135694	chr11:64057578-64057579	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs557891176	chr11:64057603-64057604	Weak transcription Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs577923943	chr11:64057760-64057761	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs540382740	chr11:64057773-64057774	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs560207064	chr11:64057789-64057790	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs569446980	chr11:64057852-64057853	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs573945675	chr11:64057853-64057854	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs542794807	chr11:64057972-64057973	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs56218700	chr11:64058030-64058031	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs537908244	chr11:64058067-64058068	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs377718585	chr11:64058070-64058071	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs187027570	chr11:64058107-64058108	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs545783841	chr11:64058114-64058115	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs555068848	chr11:64058126-64058127	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs191750851	chr11:64058183-64058184	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs185073972	chr11:64058193-64058194	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs189092405	chr11:64058213-64058214	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs561443938	chr11:64058235-64058236	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs60997246	chr11:64058280-64058281	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527269516	chr11:64058314-64058315	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs375700788	chr11:64058321-64058322	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs547561501	chr11:64058324-64058325	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs2232407	chr11:64058325-64058326	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs199510574	chr11:64058373-64058374	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs2232408	chr11:64058398-64058399	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs35016155	chr11:64058422-64058423	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs76328910	chr11:64058439-64058440	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs2232409	chr11:64058445-64058446	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs538560899	chr11:64058468-64058469	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs558777853	chr11:64058504-64058505	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 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
Pituitary adenoma	18645599	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	21785460	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
Prostate cancer	18779856	CNVD
Cancer	17160897	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

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64053800-64058000	Weak transcription	Aorta	Aorta
2	chr11:64054000-64057200	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:64054200-64057200	Weak transcription	Adipose Nuclei	Adipose
4	chr11:64054200-64057200	Weak transcription	Fetal Lung	lung
5	chr11:64054200-64057600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:64054200-64057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:64054200-64057800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:64054200-64058000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:64054200-64058000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:64054200-64058000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:64054200-64058800	Weak transcription	Ovary	ovary
12	chr11:64054200-64059200	Weak transcription	HSMMtube	muscle
13	chr11:64054400-64057600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:64054400-64057600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:64054400-64057800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:64054400-64057800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:64054400-64058200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:64054400-64058800	Weak transcription	A549	lung
19	chr11:64054600-64057200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:64054600-64057200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:64054600-64057800	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:64054600-64058200	Weak transcription	NHEK	skin
23	chr11:64054600-64058800	Weak transcription	Right Ventricle	heart
24	chr11:64054800-64057600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:64054800-64057600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:64054800-64057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:64055000-64057600	Weak transcription	Hela-S3	cervix
28	chr11:64055000-64057800	Weak transcription	Brain Angular Gyrus	brain
29	chr11:64055000-64058400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:64055200-64057200	Strong transcription	Gastric	stomach
31	chr11:64055200-64058200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:64055400-64058200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:64055400-64058400	Weak transcription	Dnd41	blood
34	chr11:64055600-64057400	Strong transcription	Placenta	Placenta
35	chr11:64055600-64057800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:64055800-64057400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:64056000-64057400	Strong transcription	Fetal Brain Female	brain
38	chr11:64056000-64058000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:64056200-64058800	Weak transcription	Pancreas	Pancrea
40	chr11:64056800-64057200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:64056800-64057200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:64056800-64057200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:64056800-64057200	Genic enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:64056800-64057200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:64056800-64057400	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr11:64057000-64057200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:64057000-64057200	Strong transcription	Spleen	Spleen
48	chr11:64057000-64058200	Weak transcription	Esophagus	oesophagus
49	chr11:64057200-64058000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:64057200-64058000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links