Variant report

Variant	nsv555443
Chromosome Location	chr11:74109166-74180489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1755)
CpG islands
(count:1773)
Chromatin interactive
region (count:90)
LncRNA
region (count:6)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74160458-74160641	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:74171281-74171428	K562	blood:	n/a	n/a
3	ARID3A	chr11:74164479-74164758	K562	blood:	n/a	n/a
4	ARID3A	chr11:74148513-74148787	K562	blood:	n/a	n/a
5	ARID3A	chr11:74109673-74110168	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:74170610-74171034	K562	blood:	n/a	n/a
7	ARID3A	chr11:74164481-74164749	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:74109792-74110550	K562	blood:	n/a	n/a
9	ATF1	chr11:74170581-74170935	K562	blood:	n/a	n/a
10	ATF1	chr11:74148465-74148864	K562	blood:	n/a	n/a
11	ATF1	chr11:74109795-74110168	K562	blood:	n/a	n/a
12	ATF2	chr11:74109517-74110209	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr11:74109553-74110141	GM12878	blood:	n/a	n/a
14	ATF3	chr11:74109530-74109947	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr11:74129496-74129947	HCT-116	colon:	n/a	n/a
16	ATF3	chr11:74173074-74173470	K562	blood:	n/a	n/a
17	ATF3	chr11:74129488-74129967	A549	lung:	n/a	n/a
18	ATF3	chr11:74109589-74109956	K562	blood:	n/a	n/a
19	ATF3	chr11:74109518-74110053	K562	blood:	n/a	n/a
20	ATF3	chr11:74148495-74148792	K562	blood:	n/a	n/a
21	BACH1	chr11:74173264-74173522	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr11:74178080-74178552	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr11:74171502-74172133	K562	blood:	n/a	n/a
24	BACH1	chr11:74109922-74110097	K562	blood:	n/a	n/a
25	BCL3	chr11:74109533-74110328	A549	lung:	n/a	n/a
26	BCL3	chr11:74109563-74110310	A549	lung:	n/a	n/a
27	BCLAF1	chr11:74109528-74110174	GM12878	blood:	n/a	n/a
28	BCLAF1	chr11:74164392-74164764	GM12878	blood:	n/a	n/a
29	BHLHE40	chr11:74109612-74110226	K562	blood:	n/a	n/a
30	BHLHE40	chr11:74109503-74110380	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:74171172-74171329	K562	blood:	n/a	n/a
32	BHLHE40	chr11:74171848-74172066	K562	blood:	n/a	n/a
33	BHLHE40	chr11:74109642-74110284	A549	lung:	n/a	n/a
34	BHLHE40	chr11:74172864-74173438	K562	blood:	n/a	chr11:74173301-74173317
35	BHLHE40	chr11:74164471-74164724	K562	blood:	n/a	n/a
36	BHLHE40	chr11:74109625-74110115	HepG2	liver:	n/a	n/a
37	BHLHE40	chr11:74170673-74170950	K562	blood:	n/a	n/a
38	BRCA1	chr11:74109737-74110106	GM12878	blood:	n/a	n/a
39	BRCA1	chr11:74129289-74129296	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr11:74109586-74110384	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr11:74160468-74160757	H1-hESC	embryonic stem cell:	n/a	n/a
42	CBX3	chr11:74109835-74110231	K562	blood:	n/a	n/a
43	CBX3	chr11:74136151-74136469	K562	blood:	n/a	n/a
44	CBX3	chr11:74151564-74151931	K562	blood:	n/a	n/a
45	CBX3	chr11:74160241-74160937	HCT-116	colon:	n/a	n/a
46	CBX3	chr11:74109585-74110277	K562	blood:	n/a	n/a
47	CBX3	chr11:74154094-74154564	HCT-116	colon:	n/a	n/a
48	CBX3	chr11:74172967-74173440	K562	blood:	n/a	n/a
49	CBX3	chr11:74148446-74148811	K562	blood:	n/a	n/a
50	CBX3	chr11:74170551-74170938	K562	blood:	n/a	n/a

(count:1773 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74154543-74154593	T-47D	breast:	n/a
2	chr11:74178268-74178318	HCPEpiC	choroid plexus:	n/a
3	chr11:74178684-74178734	HCM	heart:	n/a
4	chr11:74168469-74168519	PrEC	prostate:	n/a
5	chr11:74154543-74154593	T-47D	breast:	n/a
6	chr11:74178268-74178318	HCPEpiC	choroid plexus:	n/a
7	chr11:74178684-74178734	HCM	heart:	n/a
8	chr11:74168469-74168519	PrEC	prostate:	n/a
9	chr11:74110106-74110156	GM12891	blood:	n/a
10	chr11:74110223-74110273	HAEpiC	amniotic membrane:	n/a
11	chr11:74178749-74178799	AG04450	lung:	fetal
12	chr11:74109221-74109271	BJ	skin:	n/a
13	chr11:74172851-74172901	HRCEpiC	kidney:	n/a
14	chr11:74109510-74109560	HepG2	liver:	n/a
15	chr11:74161010-74161060	ProgFib	skin:	n/a
16	chr11:74172851-74172901	PFSK-1	brain:	n/a
17	chr11:74109674-74109724	SK-N-SH	brain:	n/a
18	chr11:74109560-74109610	HAEpiC	amniotic membrane:	n/a
19	chr11:74178883-74178933	HCF	heart:	n/a
20	chr11:74179054-74179104	AG04450	lung:	fetal
21	chr11:74174750-74174800	HAEpiC	amniotic membrane:	n/a
22	chr11:74146974-74147024	HepG2	liver:	n/a
23	chr11:74110106-74110156	AG04450	lung:	fetal
24	chr11:74109560-74109610	CMK	blood:	n/a
25	chr11:74109510-74109560	HRPEpiC	eye:	n/a
26	chr11:74146974-74147024	HL-60	blood:	n/a
27	chr11:74168469-74168519	SK-N-MC	brain:	n/a
28	chr11:74178462-74178512	AG04450	lung:	fetal
29	chr11:74179054-74179104	AG04449	skin:	fetal
30	chr11:74109221-74109271	T-47D	breast:	n/a
31	chr11:74178795-74178845	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:74178268-74178318	NB4	blood:	n/a
33	chr11:74161010-74161060	A549	lung:	n/a
34	chr11:74109971-74110021	Jurkat	blood:	n/a
35	chr11:74178883-74178933	PrEC	prostate:	n/a
36	chr11:74109971-74110021	SK-N-SH	brain:	n/a
37	chr11:74172851-74172901	T-47D	breast:	n/a
38	chr11:74178268-74178318	NHBE	bronchial:	n/a
39	chr11:74178800-74178850	AG09319	gingival:	n/a
40	chr11:74109221-74109271	SK-N-SH_RA	brain:	n/a
41	chr11:74154543-74154593	AG04450	lung:	fetal
42	chr11:74178883-74178933	ovcar-3	ovarian:	n/a
43	chr11:74179054-74179104	PrEC	prostate:	n/a
44	chr11:74178749-74178799	HCF	heart:	n/a
45	chr11:74168469-74168519	NH-A	brain:	n/a
46	chr11:74110145-74110195	T-47D	breast:	n/a
47	chr11:74110145-74110195	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:74179054-74179104	Hela-S3	cervix:	n/a
49	chr11:74109560-74109610	AG09319	gingival:	n/a
50	chr11:74109729-74109779	ovcar-3	ovarian:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:74128652..74130303-chr11:74131969..74134744,2	MCF-7	breast:
2	chr11:74109269..74109802-chr15:74907719..74908512,2	Hela-S3	cervix:
3	chr11:74108484..74111534-chr11:74133816..74136731,4	MCF-7	breast:
4	chr11:74169876..74171653-chr11:74203244..74205851,2	MCF-7	breast:
5	chr11:74128652..74130303-chr11:74131969..74134744,2	MCF-7	breast:
6	chr11:74175333..74177141-chr11:74189553..74191217,2	K562	blood:
7	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
8	chr11:73659948..73660516-chr11:74163796..74164632,2	K562	blood:
9	chr11:74166571..74169305-chr11:74204355..74205911,2	MCF-7	breast:
10	chr11:74122725..74125748-chr11:74128034..74129993,3	MCF-7	breast:
11	chr11:74147853..74150275-chr11:74150920..74154389,3	K562	blood:
12	chr11:74169367..74173365-chr11:74176278..74179176,5	K562	blood:
13	chr11:74164096..74165130-chr11:74281232..74282332,9	K562	blood:
14	chr11:73966906..73967494-chr11:74162661..74163221,2	MCF-7	breast:
15	chr11:74167420..74170050-chr11:74170321..74173103,2	MCF-7	breast:
16	chr11:74143518..74145498-chr11:74146789..74148395,2	K562	blood:
17	chr11:74099483..74099994-chr11:74153863..74154588,2	MCF-7	breast:
18	chr11:74130274..74132953-chr11:74151394..74153673,3	MCF-7	breast:
19	chr11:74153867..74156607-chr11:74157168..74160666,3	K562	blood:
20	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:
21	chr11:74163207..74164720-chr11:74203398..74205780,2	MCF-7	breast:
22	chr11:74108080..74110409-chr11:74141431..74143686,2	MCF-7	breast:
23	chr11:74153867..74156607-chr11:74157168..74160666,3	K562	blood:
24	chr11:74166040..74168250-chr11:74170163..74172017,2	K562	blood:
25	chr11:74107664..74111808-chr11:74126117..74130270,5	MCF-7	breast:
26	chr11:74171659..74173234-chr11:74174907..74176791,2	MCF-7	breast:
27	chr11:74108600..74111383-chr11:74152439..74157109,6	MCF-7	breast:
28	chr11:74153484..74156082-chr11:74157168..74159879,2	K562	blood:
29	chr11:74099605..74100422-chr11:74153909..74154835,7	MCF-7	breast:
30	chr11:74032300..74033169-chr11:74159606..74160900,3	MCF-7	breast:
31	chr11:74107926..74110579-chr11:74135503..74137366,2	K562	blood:
32	chr11:74171659..74173234-chr11:74174907..74176791,2	MCF-7	breast:
33	chr11:74107693..74110555-chr11:74110829..74112804,2	MCF-7	breast:
34	chr11:73966546..73967510-chr11:74160064..74160802,4	K562	blood:
35	chr1:154934133..154935027-chr11:74108929..74109438,2	Hela-S3	cervix:
36	chr11:74163738..74165354-chr11:74281298..74282640,17	MCF-7	breast:
37	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
38	chr11:74099429..74100351-chr11:74159564..74161010,6	K562	blood:
39	chr11:74107862..74112061-chr11:74124805..74130360,12	MCF-7	breast:
40	chr11:74111193..74112861-chr11:74116086..74118546,2	K562	blood:
41	chr11:74138649..74141159-chr11:74159030..74161938,2	MCF-7	breast:
42	chr11:73966574..73967455-chr11:74160091..74161097,4	MCF-7	breast:
43	chr11:74138649..74141159-chr11:74159030..74161938,2	MCF-7	breast:
44	chr11:74099388..74100488-chr11:74160054..74161057,5	MCF-7	breast:
45	chr11:74107780..74112076-chr11:74138285..74145600,7	MCF-7	breast:
46	chr11:74111193..74112861-chr11:74116086..74118546,2	K562	blood:
47	chr11:74169434..74171017-chr11:74173268..74174890,2	K562	blood:
48	chr11:74109326..74109999-chr15:65596506..65597464,2	Hela-S3	cervix:
49	chr11:74147853..74150275-chr11:74150920..74154389,3	K562	blood:
50	chr11:74108899..74110486-chr11:74151287..74153757,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLD3-2	chr11:74166393-74166817	ENSG00000254928.1
2	lnc-POLD3-2	chr11:74167687-74167870	ENSG00000254928.1
3	lnc-POLD3-3	chr11:74120105-74120210	ENSG00000255440
4	lnc-POLD3-3	chr11:74126892-74127424	ENSG00000255440
5	lnc-POLD3-4	chr11:74139378-74139610	ENSG00000254631.1
6	lnc-KCNE3-1	chr11:74108791-74109453	NONHSAT022898

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548al	chr11:74110346-74110367	MIMAT0019024

No data

Variant related genes	Relation type
MIR548AL	TF binding region
ENSG00000254928	TF binding region
ENSG00000255440	TF binding region
KCNE3	TF binding region
PGM2L1	TF binding region
MIR548AL	CpG island
ENSG00000254928	CpG island
ENSG00000255440	CpG island
KCNE3	CpG island
PGM2L1	CpG island
ENSG00000271380	chromatin interactions
ENSG00000254837	chromatin interactions
ENSG00000175536	chromatin interactions
ENSG00000260919	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000255440	chromatin interactions
ENSG00000175538	chromatin interactions
ENSG00000165434	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000179335	chromatin interactions
ENSG00000175575	chromatin interactions
ENSG00000163348	chromatin interactions
ENSG00000077514	chromatin interactions
ENSG00000254631	chromatin interactions
ENSG00000254928	chromatin interactions
ENSG00000149380	chromatin interactions
ENSG00000264402	chromatin interactions

Extended variants
information (count: 2634 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2634 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12049823	chr11:74109166-74109167	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148003019	chr11:74109178-74109179	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs201474390	chr11:74109185-74109186	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs374376321	chr11:74109198-74109199	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs377483284	chr11:74109209-74109210	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs368643686	chr11:74109221-74109222	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs139636577	chr11:74109231-74109232	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs200905130	chr11:74109232-74109233	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs199833213	chr11:74109241-74109242	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs115479879	chr11:74109258-74109259	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs542904884	chr11:74109280-74109281	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs559404775	chr11:74109293-74109294	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs904155	chr11:74109342-74109343	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs370518764	chr11:74109472-74109473	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs187446956	chr11:74109515-74109516	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs78431863	chr11:74109553-74109554	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs529701320	chr11:74109582-74109583	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs191059437	chr11:74109629-74109630	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs565364875	chr11:74109643-74109644	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs530951367	chr11:74109673-74109674	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs550556968	chr11:74109731-74109732	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs560901940	chr11:74109745-74109746	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs548158256	chr11:74109753-74109754	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs530044592	chr11:74109789-74109790	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs374401721	chr11:74109814-74109815	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530441993	chr11:74109819-74109820	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs567071286	chr11:74109857-74109858	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs539198702	chr11:74109881-74109882	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs552529252	chr11:74109919-74109920	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs112106456	chr11:74109924-74109925	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs367578865	chr11:74109940-74109941	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs182440433	chr11:74109972-74109973	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs201542111	chr11:74109983-74109984	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs557105749	chr11:74109985-74109986	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs372811829	chr11:74109990-74109991	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs140328947	chr11:74110053-74110054	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs536276435	chr11:74110157-74110158	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs553210669	chr11:74110163-74110164	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573090217	chr11:74110169-74110170	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200033906	chr11:74110170-74110171	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548606248	chr11:74110196-74110197	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs187872861	chr11:74110211-74110212	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs192596908	chr11:74110251-74110252	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs566898364	chr11:74110257-74110258	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs10437738	chr11:74110328-74110329	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs60917039	chr11:74110335-74110336	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs515924	chr11:74110353-74110354	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs145394973	chr11:74110358-74110359	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs540294651	chr11:74110395-74110396	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146451162	chr11:74110401-74110402	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1373 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74107200-74110400	Active TSS	Fetal Brain Female	brain
2	chr11:74107800-74109200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:74107800-74109200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:74107800-74110000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:74107800-74110000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:74107800-74110000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr11:74107800-74110000	Active TSS	Fetal Lung	lung
8	chr11:74107800-74110000	Active TSS	NH-A	brain
9	chr11:74107800-74110400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:74107800-74110400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:74107800-74110400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:74107800-74110400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:74107800-74110400	Active TSS	Thymus	Thymus
14	chr11:74107800-74110600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:74107800-74110600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:74107800-74110600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:74107800-74110800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:74108000-74109400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:74108000-74110000	Active TSS	Fetal Thymus	thymus
20	chr11:74108000-74110200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:74108000-74110400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:74108000-74110400	Active TSS	Brain Anterior Caudate	brain
23	chr11:74108000-74110600	Active TSS	Fetal Brain Male	brain
24	chr11:74108000-74110600	Active TSS	Fetal Kidney	kidney
25	chr11:74108000-74110600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:74108200-74109400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:74108200-74110000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:74108200-74110000	Active TSS	HMEC	breast
29	chr11:74108200-74110000	Active TSS	HUVEC	blood vessel
30	chr11:74108200-74110400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:74108200-74110400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:74108200-74110400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:74108200-74110400	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr11:74108200-74110400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:74108200-74110400	Active TSS	Brain Angular Gyrus	brain
36	chr11:74108200-74110400	Active TSS	Fetal Stomach	stomach
37	chr11:74108200-74110400	Active TSS	HSMM	muscle
38	chr11:74108200-74110600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:74108200-74110600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:74108200-74110600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:74108200-74110600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:74108400-74109200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:74108400-74109200	Flanking Active TSS	Dnd41	blood
44	chr11:74108400-74110000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:74108400-74110000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:74108400-74110200	Active TSS	Brain Hippocampus Middle	brain
47	chr11:74108400-74110400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:74108400-74110400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:74108400-74110400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:74108400-74110400	Active TSS	Aorta	Aorta

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