Variant report

Variant	nsv897319
Chromosome Location	chr11:46396479-46417815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2215)
CpG islands
(count:2628)
Chromatin interactive
region (count:74)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2215 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:46410987-46411191	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:46413500-46413667	K562	blood:	n/a	n/a
3	ARID3A	chr11:46402101-46402260	K562	blood:	n/a	n/a
4	ARID3A	chr11:46414212-46414243	HepG2	liver:	n/a	n/a
5	ATF2	chr11:46402216-46402605	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:46401888-46402790	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:46400834-46401165	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:46402173-46402624	GM12878	blood:	n/a	n/a
9	ATF2	chr11:46403673-46404035	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr11:46413265-46413692	K562	blood:	n/a	n/a
11	ATF3	chr11:46401888-46402246	K562	blood:	n/a	n/a
12	ATF3	chr11:46413458-46413670	HepG2	liver:	n/a	n/a
13	ATF3	chr11:46404810-46405028	K562	blood:	n/a	n/a
14	BACH1	chr11:46413270-46413556	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:46401422-46401426	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:46414372-46414560	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr11:46402342-46402912	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:46411133-46411751	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr11:46402129-46402691	A549	lung:	n/a	chr11:46402337-46402346 chr11:46402354-46402363
20	BCL3	chr11:46413950-46414527	K562	blood:	n/a	chr11:46414284-46414297
21	BCL3	chr11:46413888-46414538	A549	lung:	n/a	chr11:46414284-46414297 chr11:46414525-46414534
22	BCL3	chr11:46413978-46414527	A549	lung:	n/a	chr11:46414284-46414297
23	BCL3	chr11:46402126-46402816	GM12878	blood:	n/a	chr11:46402337-46402346 chr11:46402354-46402363
24	BCLAF1	chr11:46414043-46414421	GM12878	blood:	n/a	chr11:46414284-46414297
25	BCLAF1	chr11:46402216-46402717	GM12878	blood:	n/a	chr11:46402337-46402346 chr11:46402354-46402363
26	BCLAF1	chr11:46410937-46411343	GM12878	blood:	n/a	chr11:46411089-46411102 chr11:46411089-46411098 chr11:46411090-46411103
27	BHLHE40	chr11:46402017-46402399	K562	blood:	n/a	n/a
28	BHLHE40	chr11:46414033-46414451	K562	blood:	n/a	n/a
29	BHLHE40	chr11:46411416-46411657	A549	lung:	n/a	n/a
30	BHLHE40	chr11:46414066-46414470	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:46414015-46414443	HepG2	liver:	n/a	n/a
32	BHLHE40	chr11:46410123-46410504	K562	blood:	n/a	n/a
33	BHLHE40	chr11:46410959-46411712	K562	blood:	n/a	chr11:46411086-46411102 chr11:46411090-46411106
34	BHLHE40	chr11:46404853-46404854	K562	blood:	n/a	n/a
35	BHLHE40	chr11:46411014-46411705	GM12878	blood:	n/a	chr11:46411086-46411102 chr11:46411090-46411106
36	BHLHE40	chr11:46413278-46413376	GM12878	blood:	n/a	chr11:46413308-46413324
37	BHLHE40	chr11:46413374-46413747	K562	blood:	n/a	chr11:46413557-46413573 chr11:46413660-46413676
38	BHLHE40	chr11:46407914-46408499	K562	blood:	n/a	n/a
39	BHLHE40	chr11:46403455-46403934	K562	blood:	n/a	n/a
40	BHLHE40	chr11:46410953-46411674	HepG2	liver:	n/a	chr11:46411086-46411102 chr11:46411090-46411106
41	BHLHE40	chr11:46408210-46408581	HepG2	liver:	n/a	n/a
42	BHLHE40	chr11:46414073-46414314	HepG2	liver:	n/a	n/a
43	BRCA1	chr11:46411058-46411249	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr11:46411060-46411104	GM12878	blood:	n/a	n/a
45	BRCA1	chr11:46414192-46414357	HepG2	liver:	n/a	n/a
46	CBX3	chr11:46399359-46399798	K562	blood:	n/a	n/a
47	CBX3	chr11:46414016-46414488	K562	blood:	n/a	n/a
48	CBX3	chr11:46414161-46414435	K562	blood:	n/a	n/a
49	CBX3	chr11:46401135-46401556	K562	blood:	n/a	n/a
50	CBX3	chr11:46399430-46399768	K562	blood:	n/a	n/a

(count:2628 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46402535-46402585	HRE	kidney:	n/a
2	chr11:46403409-46403459	GM12891	blood:	n/a
3	chr11:46412175-46412225	NH-A	brain:	n/a
4	chr11:46401702-46401752	GM06990	blood:	n/a
5	chr11:46403617-46403667	NHBE	bronchial:	n/a
6	chr11:46402535-46402585	HRE	kidney:	n/a
7	chr11:46403409-46403459	GM12891	blood:	n/a
8	chr11:46412175-46412225	NH-A	brain:	n/a
9	chr11:46401702-46401752	GM06990	blood:	n/a
10	chr11:46403617-46403667	NHBE	bronchial:	n/a
11	chr11:46415316-46415366	CMK	blood:	n/a
12	chr11:46413072-46413122	HCM	heart:	n/a
13	chr11:46402666-46402716	HCPEpiC	choroid plexus:	n/a
14	chr11:46408584-46408634	NH-A	brain:	n/a
15	chr11:46402535-46402585	GM06990	blood:	n/a
16	chr11:46402949-46402999	SK-N-SH	brain:	n/a
17	chr11:46415316-46415366	HRPEpiC	eye:	n/a
18	chr11:46400378-46400428	NB4	blood:	n/a
19	chr11:46408399-46408449	HCT-116	colon:	n/a
20	chr11:46401422-46401472	HNPCEpiC	eye:	n/a
21	chr11:46403617-46403667	SK-N-SH	brain:	n/a
22	chr11:46413816-46413866	RPTEC	kidney:	n/a
23	chr11:46407677-46407727	ProgFib	skin:	n/a
24	chr11:46402210-46402260	PFSK-1	brain:	n/a
25	chr11:46407677-46407727	Hela-S3	cervix:	n/a
26	chr11:46402949-46402999	HRE	kidney:	n/a
27	chr11:46402548-46402598	NB4	blood:	n/a
28	chr11:46403409-46403459	HIPEpiC	eye:	n/a
29	chr11:46410953-46411003	ProgFib	skin:	n/a
30	chr11:46402535-46402585	MCF-7	breast:	n/a
31	chr11:46408399-46408449	AoSMC	blood vessel:	n/a
32	chr11:46414469-46414519	Jurkat	blood:	n/a
33	chr11:46397185-46397235	HIPEpiC	eye:	n/a
34	chr11:46409428-46409478	HRE	kidney:	n/a
35	chr11:46403617-46403667	NHDF-neo	bronchial:	n/a
36	chr11:46413816-46413866	SK-N-MC	brain:	n/a
37	chr11:46409428-46409478	GM19239	blood:	n/a
38	chr11:46403087-46403137	NB4	blood:	n/a
39	chr11:46410121-46410171	HepG2	liver:	n/a
40	chr11:46407677-46407727	HCF	heart:	n/a
41	chr11:46402051-46402101	GM19239	blood:	n/a
42	chr11:46413072-46413122	AG09319	gingival:	n/a
43	chr11:46414469-46414519	HepG2	liver:	n/a
44	chr11:46402601-46402651	ECC-1	luminal epithelium:	n/a
45	chr11:46403416-46403466	K562	blood:	n/a
46	chr11:46400378-46400428	U87	brain:	n/a
47	chr11:46400378-46400428	AG09309	skin:	n/a
48	chr11:46401447-46401497	MCF10A-Er-Src	breast:	n/a
49	chr11:46405046-46405096	ProgFib	skin:	n/a
50	chr11:46414626-46414676	A549	lung:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:46404448..46405323-chr11:46559050..46559932,2	K562	blood:
2	chr11:46390741..46391631-chr11:46413418..46414279,3	MCF-7	breast:
3	chr11:46367411..46370383-chr11:46395468..46399934,4	K562	blood:
4	chr11:46404460..46405392-chr11:46550904..46551508,2	MCF-7	breast:
5	chr11:46408502..46412876-chr11:46558221..46561633,5	MCF-7	breast:
6	chr11:46141600..46143492-chr11:46413694..46415670,2	K562	blood:
7	chr11:46403212..46404191-chr8:23386218..23387002,2	HCT-116	colon:
8	chr11:46373454..46374263-chr11:46410665..46411382,2	MCF-7	breast:
9	chr11:46404862..46405373-chr11:46413237..46414117,2	MCF-7	breast:
10	chr11:46413148..46415878-chr11:46416015..46418632,3	MCF-7	breast:
11	chr11:46142288..46144850-chr11:46412656..46414370,2	K562	blood:
12	chr11:46404830..46405368-chr11:46550578..46551221,2	MCF-7	breast:
13	chr11:46258315..46261111-chr11:46410413..46412185,2	K562	blood:
14	chr11:46411121..46411885-chr11:46431663..46432191,2	MCF-7	breast:
15	chr11:46410113..46411901-chr11:46416140..46417772,2	K562	blood:
16	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:
17	chr11:46259601..46262600-chr11:46396117..46399053,2	K562	blood:
18	chr11:46413333..46415363-chr11:46417315..46419574,2	MCF-7	breast:
19	chr11:46385451..46387272-chr11:46410071..46412680,2	MCF-7	breast:
20	chr11:46413333..46415363-chr11:46417315..46419574,2	MCF-7	breast:
21	chr11:46391433..46393341-chr11:46403120..46407243,3	MCF-7	breast:
22	chr11:46407801..46410593-chr11:46412319..46414287,2	MCF-7	breast:
23	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:
24	chr11:46369976..46372560-chr11:46412510..46415040,2	K562	blood:
25	chr11:46368921..46370887-chr11:46401609..46403776,2	MCF-7	breast:
26	chr10:35624220..35626742-chr11:46396388..46399236,2	MCF-7	breast:
27	chr11:46415996..46418970-chr11:46425126..46426689,2	K562	blood:
28	chr11:46368337..46369929-chr11:46403347..46406253,2	MCF-7	breast:
29	chr11:46405206..46407245-chr11:46550618..46552285,2	K562	blood:
30	chr11:46413148..46415878-chr11:46416015..46418632,3	MCF-7	breast:
31	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
32	chr11:46368742..46371364-chr11:46409380..46411367,2	K562	blood:
33	chr11:46382914..46384504-chr11:46401158..46403727,3	MCF-7	breast:
34	chr11:46402485..46405164-chr11:46638326..46640546,2	MCF-7	breast:
35	chr11:46401089..46404766-chr11:46549861..46553085,3	K562	blood:
36	chr11:46409244..46409823-chr11:46550686..46551621,2	MCF-7	breast:
37	chr11:46410487..46414649-chr11:46636425..46640304,4	K562	blood:
38	chr11:46387017..46391551-chr11:46409922..46414717,7	K562	blood:
39	chr11:46410664..46411246-chr11:46550524..46551339,3	MCF-7	breast:
40	chr11:46410222..46413059-chr11:46439314..46440904,2	K562	blood:
41	chr11:46383271..46387552-chr11:46403551..46406378,4	MCF-7	breast:
42	chr11:46406341..46408409-chr11:46409553..46411751,2	MCF-7	breast:
43	chr11:46389075..46389843-chr11:46400385..46401154,2	K562	blood:
44	chr11:46387947..46390422-chr11:46401426..46404815,4	MCF-7	breast:
45	chr11:46382758..46384571-chr11:46413597..46415273,2	K562	blood:
46	chr11:46404862..46405373-chr11:46413237..46414117,2	MCF-7	breast:
47	chr11:46391583..46394850-chr11:46399666..46402869,4	MCF-7	breast:
48	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:
49	chr11:46409177..46411497-chr11:46563543..46566290,2	K562	blood:
50	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MDK-2	chr11:46399520-46399779	NONHSAT021173
2	lnc-MDK-2	chr11:46400007-46400477	NONHSAT021173

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4688	chr11:46398006-46398027	MIMAT0019777

No data

Variant related genes	Relation type
DGKZ	TF binding region
MDK	TF binding region
MIR4688	TF binding region
CHRM4	TF binding region
DGKZ	CpG island
MDK	CpG island
MIR4688	CpG island
CHRM4	CpG island
ENSG00000180423	chromatin interactions
ENSG00000254639	chromatin interactions
ENSG00000110492	chromatin interactions
ENSG00000135365	chromatin interactions
ENSG00000147454	chromatin interactions
ENSG00000180210	chromatin interactions
ENSG00000180720	chromatin interactions
ENSG00000149091	chromatin interactions
ENSG00000110497	chromatin interactions
ENSG00000264102	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000271335	chromatin interactions
ENSG00000175224	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000108100	chromatin interactions

Extended variants
information (count: 829 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2046768	chr11:46396479-46396480	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs267602891	chr11:46396539-46396540	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs11557399	chr11:46396566-46396567	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs77238695	chr11:46396584-46396585	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs375351262	chr11:46396589-46396590	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs372454957	chr11:46396615-46396616	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs537426693	chr11:46396682-46396683	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs112515619	chr11:46396730-46396731	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs578213865	chr11:46396738-46396739	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs111525364	chr11:46396856-46396857	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs544072624	chr11:46396867-46396868	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs563753345	chr11:46396873-46396874	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs529412805	chr11:46396909-46396910	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs116698407	chr11:46396937-46396938	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs529684270	chr11:46396959-46396960	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs73466016	chr11:46396966-46396967	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375247412	chr11:46396985-46396986	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs368401110	chr11:46396999-46397000	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs369196316	chr11:46397036-46397037	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs372305940	chr11:46397077-46397078	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs372479915	chr11:46397154-46397155	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs377289328	chr11:46397157-46397158	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs558925508	chr11:46397165-46397166	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs570403825	chr11:46397180-46397181	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs370635034	chr11:46397192-46397193	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs373692332	chr11:46397201-46397202	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs550013140	chr11:46397203-46397204	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs74356618	chr11:46397242-46397243	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs147604011	chr11:46397253-46397254	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs554511859	chr11:46397267-46397268	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs535600743	chr11:46397276-46397277	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs555600192	chr11:46397299-46397300	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs566220356	chr11:46397305-46397306	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs3740974	chr11:46397323-46397324	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557897247	chr11:46397341-46397342	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs142276931	chr11:46397342-46397343	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs543776004	chr11:46397348-46397349	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs111984305	chr11:46397354-46397355	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs201107559	chr11:46397373-46397374	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs200163016	chr11:46397378-46397379	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs370921130	chr11:46397385-46397386	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs542853981	chr11:46397396-46397397	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs376231459	chr11:46397410-46397411	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs368562103	chr11:46397477-46397478	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs559504458	chr11:46397483-46397484	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs371856869	chr11:46397509-46397510	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs541090731	chr11:46397514-46397515	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs202133346	chr11:46397532-46397533	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs556842314	chr11:46397555-46397556	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs574786990	chr11:46397559-46397560	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2081 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
2	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
3	chr11:46385400-46401200	Strong transcription	Dnd41	blood
4	chr11:46386000-46398200	Weak transcription	Primary B cells from cord blood	blood
5	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
6	chr11:46387200-46399200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:46387600-46396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:46388600-46400200	Strong transcription	Gastric	stomach
9	chr11:46388800-46400600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:46389000-46399600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:46389000-46399600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:46389000-46402000	Weak transcription	Right Atrium	heart
13	chr11:46389400-46400200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:46389400-46400400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:46389400-46401400	Strong transcription	Primary T cells from cord blood	blood
16	chr11:46389600-46396600	Weak transcription	Fetal Lung	lung
17	chr11:46389600-46397000	Strong transcription	Spleen	Spleen
18	chr11:46389600-46398400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:46389600-46399200	Strong transcription	Right Ventricle	heart
20	chr11:46389600-46399800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:46389600-46400200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:46389600-46400200	Strong transcription	Liver	Liver
23	chr11:46389600-46400200	Strong transcription	Left Ventricle	heart
24	chr11:46389600-46400200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:46389600-46400400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:46389600-46400400	Strong transcription	Adipose Nuclei	Adipose
27	chr11:46389600-46400400	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr11:46389600-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:46389600-46401800	Weak transcription	Stomach Mucosa	stomach
30	chr11:46389800-46398000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:46389800-46400000	Strong transcription	Pancreas	Pancrea
32	chr11:46389800-46400200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:46389800-46400200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:46389800-46400600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:46389800-46401000	Strong transcription	Fetal Thymus	thymus
36	chr11:46390000-46399600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:46390000-46400000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:46390200-46400000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:46390200-46400400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:46390200-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:46390800-46399000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:46391000-46399800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:46391000-46402000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:46391200-46400400	Strong transcription	Fetal Brain Female	brain
45	chr11:46391400-46400400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:46391400-46400600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:46391400-46402200	Weak transcription	NH-A	brain
48	chr11:46391600-46399400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr11:46391600-46399800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:46391600-46400200	Strong transcription	Brain Germinal Matrix	brain

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