Variant report

Variant	rs533373486
Chromosome Location	chr11:62369503-62369504
allele	C/T
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	CTCF	chr11:62369437-62369605	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:62368951-62369976	K562	blood:	n/a	n/a
3	HEY1	chr11:62368534-62369558	HepG2	liver:	n/a	chr11:62369092-62369107
4	POLR2A	chr11:62368629-62369553	A549	lung:	n/a	n/a
5	POLR2A	chr11:62367896-62369805	PFSK-1	brain:	n/a	n/a
6	TEAD4	chr11:62368957-62370265	K562	blood:	n/a	n/a
7	POLR2A	chr11:62368816-62369754	PBDE	blood:	n/a	n/a
8	MAZ	chr11:62368638-62370212	K562	blood:	n/a	n/a
9	POLR2A	chr11:62368434-62369831	GM12892	blood:	n/a	n/a
10	MAFK	chr11:62369376-62369735	K562	blood:	n/a	n/a
11	CHD2	chr11:62369350-62369874	H1-hESC	embryonic stem cell:	n/a	chr11:62369509-62369519
12	GTF2F1	chr11:62369195-62369791	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr11:62369456-62369609	GM12891	blood:	n/a	n/a
14	CTCF	chr11:62369440-62369590	HCPEpiC	choroid plexus:	n/a	n/a
15	POLR2A	chr11:62368442-62369554	MCF-7	breast:	n/a	n/a
16	NFYA	chr11:62369427-62370043	Hela-S3	cervix:	n/a	n/a
17	MAX	chr11:62368563-62370436	Hela-S3	cervix:	n/a	n/a
18	ATF2	chr11:62369431-62369874	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr11:62369177-62369696	K562	blood:	n/a	n/a
20	POLR2A	chr11:62368642-62369791	NB4	blood:	n/a	n/a
21	ETS1	chr11:62368799-62369533	K562	blood:	n/a	chr11:62368932-62368943 chr11:62369377-62369386 chr11:62369377-62369393 chr11:62369213-62369224 chr11:62368972-62368983 chr11:62369377-62369386 chr11:62369375-62369385 chr11:62369377-62369386
22	MAX	chr11:62368345-62369697	HepG2	liver:	n/a	n/a
23	TAF1	chr11:62369045-62369578	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:62368267-62370415	K562	blood:	n/a	n/a
25	MAX	chr11:62368717-62369772	A549	lung:	n/a	n/a
26	MYC	chr11:62368601-62369600	MCF10A-Er-Src	breast:	n/a	n/a
27	MAZ	chr11:62368731-62369838	GM12878	blood:	n/a	n/a
28	TAF1	chr11:62368510-62369534	PFSK-1	brain:	n/a	n/a
29	SP4	chr11:62369100-62369943	H1-hESC	embryonic stem cell:	n/a	chr11:62369437-62369448 chr11:62369454-62369465 chr11:62369435-62369451 chr11:62369437-62369453
30	REST	chr11:62369402-62369780	A549	lung:	n/a	n/a
31	E2F4	chr11:62368689-62369633	MCF10A-Er-Src	breast:	n/a	chr11:62369213-62369222 chr11:62368853-62368865 chr11:62368930-62368940 chr11:62368926-62368938 chr11:62369455-62369467 chr11:62369527-62369541 chr11:62368972-62368982
32	HA-E2F1	chr11:62368590-62369742	MCF-7	breast:	n/a	chr11:62369213-62369222 chr11:62368853-62368865 chr11:62368930-62368940 chr11:62368926-62368938 chr11:62369455-62369467 chr11:62369527-62369541 chr11:62368972-62368982
33	BCL3	chr11:62368532-62369687	A549	lung:	n/a	chr11:62368925-62368938 chr11:62368931-62368940 chr11:62369058-62369067 chr11:62369212-62369221 chr11:62369660-62369673
34	CTCF	chr11:62369440-62369590	BJ	skin:	n/a	n/a
35	POLR2A	chr11:62368612-62370319	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr11:62368424-62369734	K562	blood:	n/a	chr11:62368674-62368688 chr11:62369039-62369053 chr11:62368932-62368941 chr11:62369213-62369222 chr11:62368571-62368582 chr11:62369091-62369105 chr11:62369042-62369056 chr11:62368933-62368947
37	EP300	chr11:62368441-62370351	ECC-1	luminal epithelium:	n/a	chr11:62369378-62369385 chr11:62368934-62368950
38	SP1	chr11:62368927-62369932	A549	lung:	n/a	chr11:62369213-62369222 chr11:62369437-62369448 chr11:62369438-62369448 chr11:62369212-62369222 chr11:62369211-62369223 chr11:62369454-62369465 chr11:62369437-62369449 chr11:62369438-62369447 chr11:62369438-62369448 chr11:62369211-62369223 chr11:62369437-62369449 chr11:62369439-62369448 chr11:62369212-62369221
39	NFATC1	chr11:62369067-62369628	GM12878	blood:	n/a	n/a
40	CTCF	chr11:62369460-62369610	SAEC	small airway:	n/a	n/a
41	UBTF	chr11:62368112-62369993	K562	blood:	n/a	n/a
42	POLR2A	chr11:62368494-62369950	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr11:62369480-62369630	HEEpiC	esophagus:	n/a	n/a
44	POLR2A	chr11:62368536-62369802	ProgFib	skin:	n/a	n/a
45	ELF1	chr11:62368461-62369847	GM12878	blood:	n/a	chr11:62369376-62369389 chr11:62368934-62368946 chr11:62369212-62369224 chr11:62368938-62368947 chr11:62369650-62369659 chr11:62368932-62368941 chr11:62369660-62369669 chr11:62368526-62368537
46	POLR2A	chr11:62368444-62369960	GM19193	blood:	n/a	n/a
47	ZNF263	chr11:62369001-62369704	HEK293-T-REx	kidney:	n/a	n/a
48	MAX	chr11:62368666-62370296	K562	blood:	n/a	n/a
49	GATA3	chr11:62368653-62369602	A549	lung:	n/a	n/a
50	MAFK	chr11:62369086-62369755	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62369460-62369510	SK-N-SH_RA	brain:	n/a
2	chr11:62369460-62369510	PFSK-1	brain:	n/a
3	chr11:62369490-62369540	H1-hESC	embryonic stem cell:	embryo
4	chr11:62369490-62369540	HMEC	breast:	n/a
5	chr11:62369460-62369510	HCT-116	colon:	n/a
6	chr11:62369460-62369510	ovcar-3	ovarian:	n/a
7	chr11:62369460-62369510	GM12891	blood:	n/a
8	chr11:62369460-62369510	HCM	heart:	n/a
9	chr11:62369490-62369540	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:62369460-62369510	BJ	skin:	n/a
11	chr11:62369490-62369540	NHDF-neo	bronchial:	n/a
12	chr11:62369490-62369540	SK-N-SH_RA	brain:	n/a
13	chr11:62369490-62369540	RPTEC	kidney:	n/a
14	chr11:62369490-62369540	PANC-1	pancreas:	n/a
15	chr11:62369460-62369510	NHDF-neo	bronchial:	n/a
16	chr11:62369490-62369540	HAEpiC	amniotic membrane:	n/a
17	chr11:62369460-62369510	ECC-1	luminal epithelium:	n/a
18	chr11:62369490-62369540	HCT-116	colon:	n/a
19	chr11:62369490-62369540	MCF-7	breast:	n/a
20	chr11:62369460-62369510	LNCaP	prostate:	n/a
21	chr11:62369490-62369540	HEEpiC	esophagus:	n/a
22	chr11:62369490-62369540	LNCaP	prostate:	n/a
23	chr11:62369460-62369510	NHBE	bronchial:	n/a
24	chr11:62369460-62369510	HAEpiC	amniotic membrane:	n/a
25	chr11:62369490-62369540	AoSMC	blood vessel:	n/a
26	chr11:62369460-62369510	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:62369460-62369510	SKMC	muscle:	n/a
28	chr11:62369490-62369540	BE2_C	brain:	n/a
29	chr11:62369490-62369540	Jurkat	blood:	n/a
30	chr11:62369490-62369540	PFSK-1	brain:	n/a
31	chr11:62369490-62369540	HRPEpiC	eye:	n/a
32	chr11:62369490-62369540	SK-N-MC	brain:	n/a
33	chr11:62369490-62369540	NH-A	brain:	n/a
34	chr11:62369460-62369510	RPTEC	kidney:	n/a
35	chr11:62369460-62369510	Hela-S3	cervix:	n/a
36	chr11:62369460-62369510	HMEC	breast:	n/a
37	chr11:62369490-62369540	HRE	kidney:	n/a
38	chr11:62369490-62369540	HRCEpiC	kidney:	n/a
39	chr11:62369490-62369540	U87	brain:	n/a
40	chr11:62369490-62369540	NHBE	bronchial:	n/a
41	chr11:62369460-62369510	HEEpiC	esophagus:	n/a
42	chr11:62369490-62369540	AG04450	lung:	fetal
43	chr11:62369460-62369510	AG04449	skin:	fetal
44	chr11:62369490-62369540	HUVEC	blood vessel:	n/a
45	chr11:62369460-62369510	HepG2	liver:	n/a
46	chr11:62369490-62369540	ovcar-3	ovarian:	n/a
47	chr11:62369490-62369540	GM06990	blood:	n/a
48	chr11:62369460-62369510	HL-60	blood:	n/a
49	chr11:62369460-62369510	AoSMC	blood vessel:	n/a
50	chr11:62369490-62369540	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62368512..62370789-chr11:62571314..62573375,3	K562	blood:
2	chr11:62367818..62370152-chr11:64017422..64019610,2	MCF-7	breast:
3	chr11:62367343..62369766-chr11:62446126..62447935,2	MCF-7	breast:
4	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
5	chr11:62367786..62371340-chr11:62553206..62555734,4	K562	blood:
6	chr11:62366402..62370002-chr11:62419166..62421218,5	MCF-7	breast:
7	chr11:62365951..62369565-chr11:62622521..62625872,5	K562	blood:
8	chr11:62366079..62370074-chr11:62386678..62390504,7	MCF-7	breast:
9	chr11:62369298..62371279-chr11:62444264..62446347,2	MCF-7	breast:
10	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
11	chr11:62367185..62372634-chr11:62607154..62610784,6	MCF-7	breast:
12	chr11:62369307..62371737-chr11:62414027..62416633,2	MCF-7	breast:
13	chr11:62366145..62371000-chr11:62493302..62496531,6	K562	blood:
14	chr11:62365873..62371127-chr11:62605447..62611263,11	K562	blood:
15	chr11:9482300..9482841-chr11:62369140..62369848,2	Hela-S3	cervix:
16	chr11:62367890..62370349-chr11:62493262..62495403,4	K562	blood:
17	chr11:62361223..62372590-chr11:62430599..62435389,30	K562	blood:
18	chr1:228353364..228354189-chr11:62369412..62370084,2	Hela-S3	cervix:
19	chr11:62365667..62370630-chr11:62493549..62497299,5	MCF-7	breast:
20	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
21	chr10:3214498..3215290-chr11:62369018..62369891,2	Hela-S3	cervix:
22	chr11:62367943..62370017-chr11:62571875..62574574,2	K562	blood:
23	chr11:62365983..62370724-chr11:62412063..62418373,9	K562	blood:
24	chr11:62366955..62369844-chr11:62535933..62538904,2	K562	blood:
25	chr11:62367573..62370441-chr11:62435647..62437526,2	K562	blood:
26	chr11:62368856..62371722-chr11:62553192..62555886,2	MCF-7	breast:
27	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
28	chr11:62367640..62370552-chr11:62646699..62650475,4	K562	blood:
29	chr11:62363464..62373052-chr11:62429645..62434985,23	K562	blood:
30	chr11:62344267..62349689-chr11:62366431..62369887,5	MCF-7	breast:
31	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
32	chr11:62367785..62371189-chr11:62419322..62422312,3	K562	blood:
33	chr11:62366689..62370631-chr11:62475430..62478411,3	MCF-7	breast:
34	chr11:62367022..62370613-chr11:62412660..62415093,5	MCF-7	breast:
35	chr11:62368041..62369560-chr11:62472282..62474702,2	K562	blood:
36	chr11:62368980..62371340-chr11:62553420..62555734,2	K562	blood:
37	chr11:62369006..62369884-chr5:40834874..40835819,3	Hela-S3	cervix:
38	chr11:62367086..62370916-chr11:62552894..62556677,4	MCF-7	breast:

Variant related genes	Relation type
MTA2	TF binding region
ENSG00000254964	TF binding region
ENSG00000254964	CpG island
MTA2	CpG island
ENSG00000255432	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000107959	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000214753	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
6	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
8	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
9	nsv897622	chr11:62366986-62392229	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv3423373	chr11:62368801-62371349	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62367400-62369600	Active TSS	HMEC	breast
2	chr11:62367400-62369600	Active TSS	NHEK	skin
3	chr11:62367600-62370000	Active TSS	Right Atrium	heart
4	chr11:62367600-62370400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:62367600-62370600	Active TSS	Ovary	ovary
6	chr11:62367600-62370800	Active TSS	Aorta	Aorta
7	chr11:62367800-62369600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:62367800-62369600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:62367800-62369600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:62367800-62369600	Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:62367800-62369600	Active TSS	Lung	lung
12	chr11:62367800-62369600	Active TSS	Thymus	Thymus
13	chr11:62367800-62370000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:62367800-62370000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:62367800-62370200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:62367800-62370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:62367800-62370200	Active TSS	Fetal Kidney	kidney
18	chr11:62367800-62370600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:62367800-62370600	Active TSS	Psoas Muscle	Psoas
20	chr11:62368000-62369600	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr11:62368000-62369600	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:62368000-62369600	Active TSS	GM12878-XiMat	blood
23	chr11:62368000-62369600	Active TSS	NHLF	lung
24	chr11:62368000-62370000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:62368000-62370000	Active TSS	Gastric	stomach
26	chr11:62368000-62370000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr11:62368000-62370200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:62368200-62369600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:62368200-62369600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:62368200-62369600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:62368200-62369600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:62368200-62369600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:62368200-62369600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:62368200-62369600	Active TSS	Stomach Mucosa	stomach
35	chr11:62368200-62369600	Active TSS	HUVEC	blood vessel
36	chr11:62368200-62369600	Active TSS	K562	blood
37	chr11:62368200-62369600	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:62368200-62369800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:62368200-62369800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr11:62368200-62369800	Active TSS	Pancreas	Pancrea
41	chr11:62368200-62370000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:62368200-62370000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:62368200-62370000	Active TSS	Left Ventricle	heart
44	chr11:62368200-62370000	Active TSS	Right Ventricle	heart
45	chr11:62368200-62370000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr11:62368200-62370000	Active TSS	Spleen	Spleen
47	chr11:62368200-62370000	Active TSS	A549	lung
48	chr11:62368200-62370000	Active TSS	Hela-S3	cervix
49	chr11:62368200-62370200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr11:62368200-62370200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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