Variant report

Variant	rs111661223
Chromosome Location	chr11:62369631-62369632
allele	A/C
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	POLR2A	chr11:62368951-62369976	K562	blood:	n/a	n/a
2	POLR2A	chr11:62367896-62369805	PFSK-1	brain:	n/a	n/a
3	TEAD4	chr11:62368957-62370265	K562	blood:	n/a	n/a
4	POLR2A	chr11:62368816-62369754	PBDE	blood:	n/a	n/a
5	MAZ	chr11:62368638-62370212	K562	blood:	n/a	n/a
6	POLR2A	chr11:62368434-62369831	GM12892	blood:	n/a	n/a
7	MAFK	chr11:62369376-62369735	K562	blood:	n/a	n/a
8	CHD2	chr11:62369350-62369874	H1-hESC	embryonic stem cell:	n/a	chr11:62369509-62369519
9	GTF2F1	chr11:62369195-62369791	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:62369540-62369690	AG09319	gingival:	n/a	n/a
11	NFYA	chr11:62369427-62370043	Hela-S3	cervix:	n/a	n/a
12	MAX	chr11:62368563-62370436	Hela-S3	cervix:	n/a	n/a
13	ATF2	chr11:62369431-62369874	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr11:62369177-62369696	K562	blood:	n/a	n/a
15	POLR2A	chr11:62368642-62369791	NB4	blood:	n/a	n/a
16	MAX	chr11:62368345-62369697	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:62368267-62370415	K562	blood:	n/a	n/a
18	MAX	chr11:62368717-62369772	A549	lung:	n/a	n/a
19	MAZ	chr11:62368731-62369838	GM12878	blood:	n/a	n/a
20	SP4	chr11:62369100-62369943	H1-hESC	embryonic stem cell:	n/a	chr11:62369437-62369448 chr11:62369454-62369465 chr11:62369435-62369451 chr11:62369437-62369453
21	REST	chr11:62369402-62369780	A549	lung:	n/a	n/a
22	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
23	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
24	BCL3	chr11:62368532-62369687	A549	lung:	n/a	chr11:62368925-62368938 chr11:62368931-62368940 chr11:62369058-62369067 chr11:62369212-62369221 chr11:62369660-62369673
25	POLR2A	chr11:62368612-62370319	H1-hESC	embryonic stem cell:	n/a	n/a
26	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
27	EP300	chr11:62368441-62370351	ECC-1	luminal epithelium:	n/a	chr11:62369378-62369385 chr11:62368934-62368950
28	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
29	UBTF	chr11:62368112-62369993	K562	blood:	n/a	n/a
30	POLR2A	chr11:62368494-62369950	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr11:62368536-62369802	ProgFib	skin:	n/a	n/a
32	CTCF	chr11:62369560-62369710	HFF-Myc	foreskin:	n/a	n/a
33	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
34	POLR2A	chr11:62368444-62369960	GM19193	blood:	n/a	n/a
35	ZNF263	chr11:62369001-62369704	HEK293-T-REx	kidney:	n/a	n/a
36	MAX	chr11:62368666-62370296	K562	blood:	n/a	n/a
37	MAFK	chr11:62369086-62369755	Hela-S3	cervix:	n/a	n/a
38	ZBTB33	chr11:62369003-62369649	A549	lung:	n/a	n/a
39	JUND	chr11:62368698-62370073	A549	lung:	n/a	n/a
40	POLR2A	chr11:62367492-62370094	SK-N-MC	brain:	n/a	n/a
41	E2F6	chr11:62369531-62369712	K562	blood:	n/a	n/a
42	E2F6	chr11:62369357-62370398	K562	blood:	n/a	chr11:62369455-62369467 chr11:62369527-62369541
43	SIN3AK20	chr11:62368964-62369689	K562	blood:	n/a	n/a
44	CTBP2	chr11:62368974-62370850	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr11:62368532-62369732	GM12878	blood:	n/a	chr11:62369509-62369519 chr11:62368807-62368817 chr11:62368545-62368555
46	POLR2A	chr11:62368509-62369875	GM19099	blood:	n/a	n/a
47	POLR2A	chr11:62368488-62369904	GM18951	blood:	n/a	n/a
48	POLR2A	chr11:62368295-62370454	GM12878	blood:	n/a	n/a
49	TEAD4	chr11:62368969-62370036	ECC-1	luminal epithelium:	n/a	n/a
50	E2F4	chr11:62369361-62369648	GM12878	blood:	n/a	chr11:62369455-62369467 chr11:62369527-62369541

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	chr11:62366079..62370074-chr11:62386678..62390504,7	MCF-7	breast:
8	chr11:62369298..62371279-chr11:62444264..62446347,2	MCF-7	breast:
9	chr11:62369562..62370451-chr8:64080633..64081331,2	Hela-S3	cervix:
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	chr11:62368980..62371340-chr11:62553420..62555734,2	K562	blood:
36	chr11:62369006..62369884-chr5:40834874..40835819,3	Hela-S3	cervix:
37	chr11:62367086..62370916-chr11:62552894..62556677,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254964	TF binding region
MTA2	TF binding region
ENSG00000089597	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000107959	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000181873	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	chr11:62367600-62370000	Active TSS	Right Atrium	heart
2	chr11:62367600-62370400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:62367600-62370600	Active TSS	Ovary	ovary
4	chr11:62367600-62370800	Active TSS	Aorta	Aorta
5	chr11:62367800-62370000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:62367800-62370000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:62367800-62370200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:62367800-62370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:62367800-62370200	Active TSS	Fetal Kidney	kidney
10	chr11:62367800-62370600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:62367800-62370600	Active TSS	Psoas Muscle	Psoas
12	chr11:62368000-62370000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:62368000-62370000	Active TSS	Gastric	stomach
14	chr11:62368000-62370000	Active TSS	Placenta Amnion	Placenta Amnion
15	chr11:62368000-62370200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:62368200-62369800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:62368200-62369800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr11:62368200-62369800	Active TSS	Pancreas	Pancrea
19	chr11:62368200-62370000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:62368200-62370000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:62368200-62370000	Active TSS	Left Ventricle	heart
22	chr11:62368200-62370000	Active TSS	Right Ventricle	heart
23	chr11:62368200-62370000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr11:62368200-62370000	Active TSS	Spleen	Spleen
25	chr11:62368200-62370000	Active TSS	A549	lung
26	chr11:62368200-62370000	Active TSS	Hela-S3	cervix
27	chr11:62368200-62370200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:62368200-62370200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:62368200-62370200	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:62368200-62370200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:62368200-62370200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:62368200-62370200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:62368200-62370200	Active TSS	Fetal Stomach	stomach
34	chr11:62368200-62370200	Active TSS	NHDF-Ad	bronchial
35	chr11:62368200-62370400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:62368200-62370400	Active TSS	Colon Smooth Muscle	Colon
37	chr11:62368200-62370400	Active TSS	Fetal Lung	lung
38	chr11:62368200-62370400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr11:62368200-62370400	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:62368200-62370400	Active TSS	HSMM	muscle
41	chr11:62368200-62370600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:62368200-62370600	Active TSS	Small Intestine	intestine
43	chr11:62368200-62370800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:62368200-62370800	Active TSS	Esophagus	oesophagus
45	chr11:62368400-62370000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:62368400-62370000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:62368400-62370200	Active TSS	Primary T cells from cord blood	blood
48	chr11:62368400-62370200	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:62368400-62370200	Active TSS	Brain Substantia Nigra	brain
50	chr11:62368400-62370200	Active TSS	HSMMtube	muscle

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