Variant report

Variant	esv3392074
Chromosome Location	chr11:64409001-64411549
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	chr11:64411418-64411584	K562	blood:	n/a	n/a
2	CTBP2	chr11:64410352-64411287	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:64411118-64411198	NHEK	skin:	n/a	n/a
4	CTCF	chr11:64411084-64411205	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:64411086-64411156	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:64411107-64411220	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:64411077-64411250	LNCaP	prostate:	n/a	n/a
8	EGR1	chr11:64410858-64411231	H1-hESC	embryonic stem cell:	n/a	chr11:64411107-64411120
9	GATA2	chr11:64409423-64410072	SH-SY5Y	brain:	n/a	chr11:64409615-64409627 chr11:64409800-64409809
10	GATA2	chr11:64411242-64411635	SH-SY5Y	brain:	n/a	n/a
11	MAX	chr11:64411332-64411635	K562	blood:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
12	MAX	chr11:64411433-64411594	NB4	blood:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
13	MAX	chr11:64411418-64411523	A549	lung:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411477-64411487
14	MAX	chr11:64411036-64411674	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411265-64411275 chr11:64411107-64411117 chr11:64411477-64411487
15	MAX	chr11:64410952-64411712	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411265-64411275 chr11:64411107-64411117 chr11:64411477-64411487
16	MAX	chr11:64411335-64411654	MCF-7	breast:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
17	MAX	chr11:64411366-64411687	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
18	MXI1	chr11:64409351-64411995	SK-N-SH	brain:	n/a	chr11:64411478-64411487
19	MXI1	chr11:64411456-64411656	H1-hESC	embryonic stem cell:	n/a	chr11:64411478-64411487
20	MYC	chr11:64411414-64411582	MCF-7	breast:	n/a	chr11:64411478-64411485 chr11:64411476-64411487 chr11:64411538-64411548 chr11:64411477-64411487
21	POLR2A	chr11:64411268-64411269	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:64410292-64410611	U87	brain:	n/a	n/a
23	POLR2A	chr11:64409403-64409839	U87	brain:	n/a	n/a
24	POLR2A	chr11:64409300-64412311	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr11:64409535-64411757	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr11:64410292-64410617	U87	brain:	n/a	n/a
27	POLR2A	chr11:64411378-64412144	U87	brain:	n/a	n/a
28	POLR2A	chr11:64411443-64411628	ProgFib	skin:	n/a	n/a
29	POLR2A	chr11:64411429-64412144	U87	brain:	n/a	n/a
30	POLR2A	chr11:64411167-64429413	U87	brain:	n/a	n/a
31	POLR2A	chr11:64409438-64409839	U87	brain:	n/a	n/a
32	POLR2A	chr11:64411167-64414430	U87	brain:	n/a	n/a
33	REST	chr11:64410280-64411346	H1-neurons	neurons:	n/a	chr11:64410461-64410474
34	SIN3A	chr11:64410939-64411072	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3A	chr11:64409608-64409800	H1-hESC	embryonic stem cell:	n/a	n/a
36	SPI1	chr11:64409051-64409517	HL-60	blood:	n/a	chr11:64409258-64409267 chr11:64409255-64409268 chr11:64409255-64409268
37	SPI1	chr11:64409144-64409367	GM12878	blood:	n/a	chr11:64409258-64409267 chr11:64409255-64409268 chr11:64409255-64409268
38	SPI1	chr11:64409167-64409380	K562	blood:	n/a	chr11:64409258-64409267 chr11:64409255-64409268 chr11:64409255-64409268
39	SPI1	chr11:64409154-64409322	K562	blood:	n/a	chr11:64409258-64409267 chr11:64409255-64409268 chr11:64409255-64409268
40	TCF12	chr11:64410920-64411256	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr11:64410868-64411147	H1-hESC	embryonic stem cell:	n/a	n/a
42	USF1	chr11:64411352-64411595	SK-N-SH_RA	brain:	n/a	n/a
43	USF1	chr11:64411377-64411588	SK-N-SH_RA	brain:	n/a	n/a
44	ZNF143	chr11:64410873-64411209	H1-hESC	embryonic stem cell:	n/a	chr11:64411152-64411162

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64409932-64409982	IMR90	lung:	fetal
2	chr11:64411428-64411478	HNPCEpiC	eye:	n/a
3	chr11:64409932-64409982	GM12891	blood:	n/a
4	chr11:64410564-64410614	HCT-116	colon:	n/a
5	chr11:64409932-64409982	HIPEpiC	eye:	n/a
6	chr11:64410564-64410614	A549	lung:	n/a
7	chr11:64409932-64409982	AG10803	skin:	n/a
8	chr11:64410564-64410614	IMR90	lung:	fetal
9	chr11:64410392-64410442	HCF	heart:	n/a
10	chr11:64411504-64411554	HIPEpiC	eye:	n/a
11	chr11:64409932-64409982	Jurkat	blood:	n/a
12	chr11:64411504-64411554	HepG2	liver:	n/a
13	chr11:64410564-64410614	HIPEpiC	eye:	n/a
14	chr11:64409932-64409982	PANC-1	pancreas:	n/a
15	chr11:64410564-64410614	GM06990	blood:	n/a
16	chr11:64410564-64410614	HRPEpiC	eye:	n/a
17	chr11:64411428-64411478	HEK293	kidney:	embryo
18	chr11:64411428-64411478	SAEC	small airway:	n/a
19	chr11:64411504-64411554	HAEpiC	amniotic membrane:	n/a
20	chr11:64410392-64410442	LNCaP	prostate:	n/a
21	chr11:64409932-64409982	HepG2	liver:	n/a
22	chr11:64409932-64409982	AG04449	skin:	fetal
23	chr11:64409932-64409982	HEEpiC	esophagus:	n/a
24	chr11:64409932-64409982	HRCEpiC	kidney:	n/a
25	chr11:64410392-64410442	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:64411504-64411554	A549	lung:	n/a
27	chr11:64411428-64411478	HAEpiC	amniotic membrane:	n/a
28	chr11:64409932-64409982	BE2_C	brain:	n/a
29	chr11:64410392-64410442	HCPEpiC	choroid plexus:	n/a
30	chr11:64410564-64410614	PrEC	prostate:	n/a
31	chr11:64409932-64409982	CMK	blood:	n/a
32	chr11:64410564-64410614	NH-A	brain:	n/a
33	chr11:64410564-64410614	NHDF-neo	bronchial:	n/a
34	chr11:64410564-64410614	AG04450	lung:	fetal
35	chr11:64411428-64411478	CMK	blood:	n/a
36	chr11:64411428-64411478	HMEC	breast:	n/a
37	chr11:64411504-64411554	AG09309	skin:	n/a
38	chr11:64411504-64411554	NT2-D1	testis:	n/a
39	chr11:64409932-64409982	Hepatocyte	liver:	n/a
40	chr11:64411504-64411554	SKMC	muscle:	n/a
41	chr11:64409932-64409982	NHDF-neo	bronchial:	n/a
42	chr11:64409932-64409982	RPTEC	kidney:	n/a
43	chr11:64410392-64410442	SAEC	small airway:	n/a
44	chr11:64411504-64411554	HUVEC	blood vessel:	n/a
45	chr11:64410564-64410614	K562	blood:	n/a
46	chr11:64410564-64410614	SAEC	small airway:	n/a
47	chr11:64410564-64410614	ECC-1	luminal epithelium:	n/a
48	chr11:64410392-64410442	AoSMC	blood vessel:	n/a
49	chr11:64411504-64411554	U87	brain:	n/a
50	chr11:64411504-64411554	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64411217..64413501-chr11:64452044..64454513,2	K562	blood:
2	11:64187725-64189071..11:64402707-64415880	K562	blood:
3	chr11:64407781..64409296-chr11:64410548..64412915,2	K562	blood:
4	chr11:64406905..64410003-chr11:64415676..64418425,3	K562	blood:
5	chr11:64411039..64413414-chr11:64416751..64419165,4	K562	blood:

Variant related genes	Relation type
ENSG00000237410	TF binding region
NRXN2	TF binding region
ENSG00000237410	CpG island
NRXN2	CpG island
ENSG00000231492	chromatin interactions
ENSG00000110076	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371785995	chr11:64409008-64409009	Strong transcription Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188906634	chr11:64409080-64409081	Strong transcription Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs144358137	chr11:64409114-64409115	Strong transcription Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs114589352	chr11:64409119-64409120	Strong transcription Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs148372433	chr11:64409128-64409129	Strong transcription Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs529095920	chr11:64409203-64409204	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs143344120	chr11:64409206-64409207	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs193060306	chr11:64409232-64409233	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs544678607	chr11:64409295-64409296	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs147449930	chr11:64409326-64409327	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs551073056	chr11:64409334-64409335	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs570725243	chr11:64409381-64409382	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539833141	chr11:64409408-64409409	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs546932914	chr11:64409516-64409517	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs566871770	chr11:64409519-64409520	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs368788104	chr11:64409550-64409551	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs535645084	chr11:64409598-64409599	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183060628	chr11:64409600-64409601	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568589799	chr11:64409636-64409637	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs555984350	chr11:64409656-64409657	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs574505780	chr11:64409670-64409671	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557843714	chr11:64409677-64409678	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs577519846	chr11:64409698-64409699	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs540268865	chr11:64409703-64409704	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372194960	chr11:64409711-64409712	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs572257039	chr11:64409762-64409763	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs186987133	chr11:64409772-64409773	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs542820783	chr11:64409794-64409795	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562642433	chr11:64409805-64409806	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557721582	chr11:64409815-64409816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs531546323	chr11:64409832-64409833	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs139888762	chr11:64409850-64409851	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544341323	chr11:64409871-64409872	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs564611351	chr11:64409878-64409879	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371255645	chr11:64409882-64409883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs371486797	chr11:64410005-64410006	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs533170963	chr11:64410007-64410008	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373885284	chr11:64410048-64410049	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200324728	chr11:64410066-64410067	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138224166	chr11:64410075-64410076	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529571302	chr11:64410110-64410111	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549289478	chr11:64410132-64410133	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569067675	chr11:64410141-64410142	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373007284	chr11:64410150-64410151	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377111588	chr11:64410169-64410170	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs4373928	chr11:64410196-64410197	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs557563727	chr11:64410223-64410224	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575121691	chr11:64410349-64410350	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs571359241	chr11:64410384-64410385	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533537366	chr11:64410425-64410426	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64403000-64410400	Weak transcription	Aorta	Aorta
2	chr11:64406000-64409600	Weak transcription	HSMMtube	muscle
3	chr11:64406000-64409800	Weak transcription	Right Atrium	heart
4	chr11:64406600-64409400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:64406600-64410800	Active TSS	Brain Angular Gyrus	brain
6	chr11:64406800-64411400	Active TSS	Brain Anterior Caudate	brain
7	chr11:64407400-64409400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
8	chr11:64407800-64409200	Strong transcription	Osteobl	bone
9	chr11:64407800-64409400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:64407800-64409400	Active TSS	Brain Hippocampus Middle	brain
11	chr11:64407800-64409400	Bivalent Enhancer	Fetal Lung	lung
12	chr11:64408000-64409400	Weak transcription	Spleen	Spleen
13	chr11:64408200-64409800	Strong transcription	HSMM	muscle
14	chr11:64408400-64409200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr11:64408400-64409600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:64408400-64409600	Flanking Active TSS	Fetal Brain Female	brain
17	chr11:64408400-64409800	Enhancers	Ovary	ovary
18	chr11:64408400-64410000	Flanking Active TSS	Fetal Brain Male	brain
19	chr11:64408600-64409400	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr11:64408600-64409400	Bivalent Enhancer	Fetal Kidney	kidney
21	chr11:64408600-64409600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr11:64408800-64409200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:64408800-64409400	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:64408800-64411400	Weak transcription	Gastric	stomach
25	chr11:64409000-64409200	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:64409000-64409200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr11:64409000-64409200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr11:64409000-64409400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr11:64409200-64409400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:64409200-64409600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:64409200-64409600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:64409200-64409600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
33	chr11:64409200-64409800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr11:64409200-64409800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr11:64409200-64410000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr11:64409200-64410400	Bivalent Enhancer	Fetal Thymus	thymus
37	chr11:64409200-64410600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr11:64409200-64411000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr11:64409200-64411400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr11:64409200-64411400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
41	chr11:64409200-64411600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:64409400-64409600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr11:64409400-64409600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:64409400-64409600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr11:64409400-64409600	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr11:64409400-64409600	Active TSS	Colon Smooth Muscle	Colon
47	chr11:64409400-64409600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr11:64409400-64409600	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chr11:64409400-64409600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr11:64409400-64409800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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