Variant report

Variant	rs200905340
Chromosome Location	chr11:62369880-62369881
allele	-/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	CTCF	chr11:62369800-62369950	GM12875	blood:	n/a	n/a
2	POLR2A	chr11:62368951-62369976	K562	blood:	n/a	n/a
3	TEAD4	chr11:62368957-62370265	K562	blood:	n/a	n/a
4	MAZ	chr11:62368638-62370212	K562	blood:	n/a	n/a
5	NFYA	chr11:62369427-62370043	Hela-S3	cervix:	n/a	n/a
6	USF1	chr11:62369668-62370508	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr11:62368563-62370436	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:62368267-62370415	K562	blood:	n/a	n/a
9	SP4	chr11:62369100-62369943	H1-hESC	embryonic stem cell:	n/a	chr11:62369437-62369448 chr11:62369454-62369465 chr11:62369435-62369451 chr11:62369437-62369453
10	POLR2A	chr11:62368612-62370319	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr11:62368441-62370351	ECC-1	luminal epithelium:	n/a	chr11:62369378-62369385 chr11:62368934-62368950
12	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
13	UBTF	chr11:62368112-62369993	K562	blood:	n/a	n/a
14	POLR2A	chr11:62368494-62369950	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:62368444-62369960	GM19193	blood:	n/a	n/a
16	MAX	chr11:62368666-62370296	K562	blood:	n/a	n/a
17	MYC	chr11:62369841-62369902	K562	blood:	n/a	n/a
18	JUND	chr11:62368698-62370073	A549	lung:	n/a	n/a
19	POLR2A	chr11:62367492-62370094	SK-N-MC	brain:	n/a	n/a
20	CREB1	chr11:62369710-62369988	A549	lung:	n/a	n/a
21	E2F6	chr11:62369357-62370398	K562	blood:	n/a	chr11:62369455-62369467 chr11:62369527-62369541
22	CTBP2	chr11:62368974-62370850	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:62368488-62369904	GM18951	blood:	n/a	n/a
24	POLR2A	chr11:62368295-62370454	GM12878	blood:	n/a	n/a
25	TEAD4	chr11:62368969-62370036	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chr11:62369263-62369892	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:62368901-62370221	K562	blood:	n/a	n/a
28	TAF1	chr11:62368530-62369942	H1-neurons	neurons:	n/a	n/a
29	MAX	chr11:62368399-62370429	K562	blood:	n/a	n/a
30	SP1	chr11:62369000-62370081	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
31	SP4	chr11:62368738-62369925	H1-hESC	embryonic stem cell:	n/a	chr11:62369437-62369448 chr11:62369454-62369465 chr11:62369435-62369451 chr11:62369437-62369453
32	POLR2A	chr11:62369417-62370330	K562	blood:	n/a	n/a
33	NFYB	chr11:62369419-62369888	Hela-S3	cervix:	n/a	n/a
34	POU2F2	chr11:62368984-62369913	GM12878	blood:	n/a	chr11:62369575-62369587 chr11:62369577-62369588 chr11:62369576-62369586 chr11:62369212-62369224 chr11:62369578-62369585 chr11:62369577-62369587 chr11:62369573-62369591 chr11:62369578-62369586 chr11:62369575-62369589 chr11:62369574-62369589 chr11:62369572-62369593 chr11:62369576-62369586 chr11:62369577-62369586
35	USF1	chr11:62369879-62370318	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr11:62369749-62370326	K562	blood:	n/a	n/a
37	POLR2A	chr11:62368352-62370040	U87	brain:	n/a	n/a
38	POLR2A	chr11:62368666-62369900	K562	blood:	n/a	n/a
39	HCFC1	chr11:62367839-62371522	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:62368323-62370634	K562	blood:	n/a	n/a
41	EGR1	chr11:62368567-62369886	HCT-116	colon:	n/a	chr11:62369215-62369224 chr11:62369214-62369227 chr11:62369214-62369227 chr11:62369212-62369222 chr11:62369214-62369224 chr11:62369215-62369225 chr11:62368934-62368944 chr11:62369209-62369231 chr11:62369208-62369221 chr11:62369214-62369227 chr11:62369211-62369225 chr11:62369213-62369227 chr11:62369214-62369227
42	POLR2A	chr11:62369412-62369933	H1-hESC	embryonic stem cell:	n/a	n/a
43	PML	chr11:62368616-62369989	K562	blood:	n/a	n/a
44	USF2	chr11:62369147-62370277	Hela-S3	cervix:	n/a	chr11:62370108-62370119 chr11:62369244-62369260
45	CHD1	chr11:62365894-62370422	IMR90	lung:	n/a	chr11:62369509-62369519 chr11:62368807-62368817 chr11:62368545-62368555
46	YY1	chr11:62369799-62369922	K562	blood:	n/a	n/a
47	ZNF143	chr11:62369440-62369974	K562	blood:	n/a	chr11:62369640-62369658
48	POLR2A	chr11:62368369-62370399	Hela-S3	cervix:	n/a	n/a
49	MYC	chr11:62368583-62370304	K562	blood:	n/a	n/a
50	HMGN3	chr11:62368449-62370875	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62369859-62369909	BE2_C	brain:	n/a
2	chr11:62369859-62369909	Hepatocyte	liver:	n/a
3	chr11:62369870-62369920	HMEC	breast:	n/a
4	chr11:62369859-62369909	ovcar-3	ovarian:	n/a
5	chr11:62369870-62369920	AG10803	skin:	n/a
6	chr11:62369870-62369920	HEK293	kidney:	embryo
7	chr11:62369870-62369920	PFSK-1	brain:	n/a
8	chr11:62369859-62369909	PFSK-1	brain:	n/a
9	chr11:62369859-62369909	RPTEC	kidney:	n/a
10	chr11:62369870-62369920	HepG2	liver:	n/a
11	chr11:62369859-62369909	IMR90	lung:	fetal
12	chr11:62369859-62369909	HRPEpiC	eye:	n/a
13	chr11:62369859-62369909	AG04449	skin:	fetal
14	chr11:62369870-62369920	GM12878	blood:	n/a
15	chr11:62369870-62369920	NT2-D1	testis:	n/a
16	chr11:62369870-62369920	ECC-1	luminal epithelium:	n/a
17	chr11:62369859-62369909	PANC-1	pancreas:	n/a
18	chr11:62369859-62369909	SK-N-SH_RA	brain:	n/a
19	chr11:62369870-62369920	GM06990	blood:	n/a
20	chr11:62369859-62369909	SK-N-SH	brain:	n/a
21	chr11:62369870-62369920	T-47D	breast:	n/a
22	chr11:62369870-62369920	NHDF-neo	bronchial:	n/a
23	chr11:62369859-62369909	HEK293	kidney:	embryo
24	chr11:62369859-62369909	Jurkat	blood:	n/a
25	chr11:62369870-62369920	Jurkat	blood:	n/a
26	chr11:62369870-62369920	CMK	blood:	n/a
27	chr11:62369859-62369909	NH-A	brain:	n/a
28	chr11:62369870-62369920	U87	brain:	n/a
29	chr11:62369870-62369920	LNCaP	prostate:	n/a
30	chr11:62369859-62369909	GM12878	blood:	n/a
31	chr11:62369859-62369909	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:62369859-62369909	Hela-S3	cervix:	n/a
33	chr11:62369870-62369920	H1-hESC	embryonic stem cell:	embryo
34	chr11:62369859-62369909	HRCEpiC	kidney:	n/a
35	chr11:62369870-62369920	HRE	kidney:	n/a
36	chr11:62369870-62369920	SK-N-SH_RA	brain:	n/a
37	chr11:62369870-62369920	AG09319	gingival:	n/a
38	chr11:62369859-62369909	BJ	skin:	n/a
39	chr11:62369859-62369909	HCF	heart:	n/a
40	chr11:62369870-62369920	HCM	heart:	n/a
41	chr11:62369859-62369909	AG09319	gingival:	n/a
42	chr11:62369859-62369909	HCT-116	colon:	n/a
43	chr11:62369859-62369909	T-47D	breast:	n/a
44	chr11:62369859-62369909	HEEpiC	esophagus:	n/a
45	chr11:62369870-62369920	NHBE	bronchial:	n/a
46	chr11:62369859-62369909	GM19239	blood:	n/a
47	chr11:62369870-62369920	GM12891	blood:	n/a
48	chr11:62369870-62369920	BE2_C	brain:	n/a
49	chr11:62369870-62369920	NH-A	brain:	n/a
50	chr11:62369870-62369920	HNPCEpiC	eye:	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	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
4	chr11:62367786..62371340-chr11:62553206..62555734,4	K562	blood:
5	chr11:62366402..62370002-chr11:62419166..62421218,5	MCF-7	breast:
6	chr11:62366079..62370074-chr11:62386678..62390504,7	MCF-7	breast:
7	chr11:62369298..62371279-chr11:62444264..62446347,2	MCF-7	breast:
8	chr11:62369562..62370451-chr8:64080633..64081331,2	Hela-S3	cervix:
9	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
10	chr11:62367185..62372634-chr11:62607154..62610784,6	MCF-7	breast:
11	chr11:62369307..62371737-chr11:62414027..62416633,2	MCF-7	breast:
12	chr11:62366145..62371000-chr11:62493302..62496531,6	K562	blood:
13	chr11:62365873..62371127-chr11:62605447..62611263,11	K562	blood:
14	chr11:62367890..62370349-chr11:62493262..62495403,4	K562	blood:
15	chr11:62361223..62372590-chr11:62430599..62435389,30	K562	blood:
16	chr1:228353364..228354189-chr11:62369412..62370084,2	Hela-S3	cervix:
17	chr11:62365667..62370630-chr11:62493549..62497299,5	MCF-7	breast:
18	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
19	chr10:3214498..3215290-chr11:62369018..62369891,2	Hela-S3	cervix:
20	chr11:62367943..62370017-chr11:62571875..62574574,2	K562	blood:
21	chr11:62365983..62370724-chr11:62412063..62418373,9	K562	blood:
22	chr11:62367573..62370441-chr11:62435647..62437526,2	K562	blood:
23	chr11:62368856..62371722-chr11:62553192..62555886,2	MCF-7	breast:
24	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
25	chr11:62367640..62370552-chr11:62646699..62650475,4	K562	blood:
26	chr11:62363464..62373052-chr11:62429645..62434985,23	K562	blood:
27	chr11:62344267..62349689-chr11:62366431..62369887,5	MCF-7	breast:
28	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
29	chr11:62367785..62371189-chr11:62419322..62422312,3	K562	blood:
30	chr11:62366689..62370631-chr11:62475430..62478411,3	MCF-7	breast:
31	chr11:62367022..62370613-chr11:62412660..62415093,5	MCF-7	breast:
32	chr11:62368980..62371340-chr11:62553420..62555734,2	K562	blood:
33	chr11:62369006..62369884-chr5:40834874..40835819,3	Hela-S3	cervix:
34	chr11:62367086..62370916-chr11:62552894..62556677,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254964	TF binding region
MTA2	TF binding region
MTA2	CpG island
ENSG00000254964	CpG island
ENSG00000255432	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000107959	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000162191	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	chr11:62367600-62370000	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	chr11:62368200-62370000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:62368200-62370000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:62368200-62370000	Active TSS	Left Ventricle	heart
19	chr11:62368200-62370000	Active TSS	Right Ventricle	heart
20	chr11:62368200-62370000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:62368200-62370000	Active TSS	Spleen	Spleen
22	chr11:62368200-62370000	Active TSS	A549	lung
23	chr11:62368200-62370000	Active TSS	Hela-S3	cervix
24	chr11:62368200-62370200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:62368200-62370200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:62368200-62370200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:62368200-62370200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:62368200-62370200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:62368200-62370200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:62368200-62370200	Active TSS	Fetal Stomach	stomach
31	chr11:62368200-62370200	Active TSS	NHDF-Ad	bronchial
32	chr11:62368200-62370400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:62368200-62370400	Active TSS	Colon Smooth Muscle	Colon
34	chr11:62368200-62370400	Active TSS	Fetal Lung	lung
35	chr11:62368200-62370400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:62368200-62370400	Active TSS	Rectal Smooth Muscle	rectum
37	chr11:62368200-62370400	Active TSS	HSMM	muscle
38	chr11:62368200-62370600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr11:62368200-62370600	Active TSS	Small Intestine	intestine
40	chr11:62368200-62370800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:62368200-62370800	Active TSS	Esophagus	oesophagus
42	chr11:62368400-62370000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:62368400-62370000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:62368400-62370200	Active TSS	Primary T cells from cord blood	blood
45	chr11:62368400-62370200	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:62368400-62370200	Active TSS	Brain Substantia Nigra	brain
47	chr11:62368400-62370200	Active TSS	HSMMtube	muscle
48	chr11:62368400-62370400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:62368400-62370400	Active TSS	Brain Angular Gyrus	brain
50	chr11:62368400-62370400	Active TSS	Fetal Brain Female	brain

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