Variant report

Variant	rs34709729
Chromosome Location	chr11:62370246-62370247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:61)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:62368957-62370265	K562	blood:	n/a	n/a
2	RAD21	chr11:62370219-62370353	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF2	chr11:62369887-62370298	H1-hESC	embryonic stem cell:	n/a	chr11:62370108-62370119
4	USF1	chr11:62369668-62370508	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr11:62368563-62370436	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:62368267-62370415	K562	blood:	n/a	n/a
7	CTCF	chr11:62370200-62370350	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr11:62370240-62370390	NHEK	skin:	n/a	n/a
9	CTCF	chr11:62370200-62370350	BJ	skin:	n/a	n/a
10	POLR2A	chr11:62368612-62370319	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:62370240-62370390	NHDF-neo	bronchial:	n/a	n/a
12	EP300	chr11:62368441-62370351	ECC-1	luminal epithelium:	n/a	chr11:62369378-62369385 chr11:62368934-62368950
13	CTCF	chr11:62370200-62370350	SAEC	small airway:	n/a	n/a
14	CTCF	chr11:62370220-62370370	AG09319	gingival:	n/a	n/a
15	MAX	chr11:62368666-62370296	K562	blood:	n/a	n/a
16	E2F6	chr11:62369357-62370398	K562	blood:	n/a	chr11:62369455-62369467 chr11:62369527-62369541
17	ZNF143	chr11:62370060-62370435	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr11:62368974-62370850	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr11:62370215-62370385	NHEK	skin:	n/a	n/a
20	CTCF	chr11:62370180-62370330	HBMEC	blood vessel:	n/a	n/a
21	POLR2A	chr11:62368295-62370454	GM12878	blood:	n/a	n/a
22	CTCF	chr11:62370180-62370330	Caco-2	colon:	n/a	n/a
23	CTCF	chr11:62370221-62370360	Pancreas_OC	pancreas:	n/a	n/a
24	MAX	chr11:62368399-62370429	K562	blood:	n/a	n/a
25	MAX	chr11:62369952-62370482	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:62369417-62370330	K562	blood:	n/a	n/a
27	USF1	chr11:62369879-62370318	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr11:62369881-62370378	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr11:62370200-62370350	HEEpiC	esophagus:	n/a	n/a
30	E2F6	chr11:62369749-62370326	K562	blood:	n/a	n/a
31	HCFC1	chr11:62367839-62371522	Hela-S3	cervix:	n/a	n/a
32	USF1	chr11:62369926-62370342	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr11:62368323-62370634	K562	blood:	n/a	n/a
34	USF2	chr11:62369147-62370277	Hela-S3	cervix:	n/a	chr11:62370108-62370119 chr11:62369244-62369260
35	CHD1	chr11:62365894-62370422	IMR90	lung:	n/a	chr11:62369509-62369519 chr11:62368807-62368817 chr11:62368545-62368555
36	POLR2A	chr11:62368369-62370399	Hela-S3	cervix:	n/a	n/a
37	USF1	chr11:62369900-62370313	SK-N-SH_RA	brain:	n/a	n/a
38	MYC	chr11:62368583-62370304	K562	blood:	n/a	n/a
39	HMGN3	chr11:62368449-62370875	K562	blood:	n/a	n/a
40	MAZ	chr11:62367943-62370617	IMR90	lung:	n/a	n/a
41	CTCF	chr11:62370240-62370390	AG04449	skin:	n/a	n/a
42	POLR2A	chr11:62369960-62370335	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:62368465-62370378	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr11:62368474-62370720	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr11:62368640-62370778	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:62370240-62370390	HAc	cerebellar:	n/a	n/a
47	CTCF	chr11:62370120-62370270	BJ	skin:	n/a	n/a
48	RCOR1	chr11:62369070-62370310	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr11:62370140-62370290	HUVEC	blood vessel:	n/a	n/a
50	E2F6	chr11:62368571-62370483	K562	blood:	n/a	chr11:62369213-62369222 chr11:62368853-62368865 chr11:62368930-62368940 chr11:62368926-62368938 chr11:62369455-62369467 chr11:62369527-62369541 chr11:62368972-62368982

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62370246-62370296	MCF10A-Er-Src	breast:	n/a
2	chr11:62370246-62370296	GM12892	blood:	n/a
3	chr11:62370246-62370296	GM19239	blood:	n/a
4	chr11:62370246-62370296	A549	lung:	n/a
5	chr11:62370246-62370296	HNPCEpiC	eye:	n/a
6	chr11:62370246-62370296	GM12891	blood:	n/a
7	chr11:62370246-62370296	IMR90	lung:	fetal
8	chr11:62370246-62370296	HRE	kidney:	n/a
9	chr11:62370246-62370296	AG10803	skin:	n/a
10	chr11:62370246-62370296	PrEC	prostate:	n/a
11	chr11:62370246-62370296	HEK293	kidney:	embryo
12	chr11:62370246-62370296	Hepatocyte	liver:	n/a
13	chr11:62370246-62370296	MCF-7	breast:	n/a
14	chr11:62370246-62370296	HCF	heart:	n/a
15	chr11:62370246-62370296	GM12878	blood:	n/a
16	chr11:62370246-62370296	K562	blood:	n/a
17	chr11:62370246-62370296	BE2_C	brain:	n/a
18	chr11:62370246-62370296	H1-hESC	embryonic stem cell:	embryo
19	chr11:62370246-62370296	NH-A	brain:	n/a
20	chr11:62370246-62370296	SAEC	small airway:	n/a
21	chr11:62370246-62370296	HRPEpiC	eye:	n/a
22	chr11:62370246-62370296	RPTEC	kidney:	n/a
23	chr11:62370246-62370296	ProgFib	skin:	n/a
24	chr11:62370246-62370296	BJ	skin:	n/a
25	chr11:62370246-62370296	HL-60	blood:	n/a
26	chr11:62370246-62370296	CMK	blood:	n/a
27	chr11:62370246-62370296	NB4	blood:	n/a
28	chr11:62370246-62370296	NHBE	bronchial:	n/a
29	chr11:62370246-62370296	Caco-2	colon:	n/a
30	chr11:62370246-62370296	AG09309	skin:	n/a
31	chr11:62370246-62370296	AG04450	lung:	fetal
32	chr11:62370246-62370296	HCT-116	colon:	n/a
33	chr11:62370246-62370296	HCPEpiC	choroid plexus:	n/a
34	chr11:62370246-62370296	PFSK-1	brain:	n/a
35	chr11:62370246-62370296	T-47D	breast:	n/a
36	chr11:62370246-62370296	SK-N-SH_RA	brain:	n/a
37	chr11:62370246-62370296	ECC-1	luminal epithelium:	n/a
38	chr11:62370246-62370296	AoSMC	blood vessel:	n/a
39	chr11:62370246-62370296	NT2-D1	testis:	n/a
40	chr11:62370246-62370296	HUVEC	blood vessel:	n/a
41	chr11:62370246-62370296	HRCEpiC	kidney:	n/a
42	chr11:62370246-62370296	Jurkat	blood:	n/a
43	chr11:62370246-62370296	GM06990	blood:	n/a
44	chr11:62370246-62370296	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:62370246-62370296	PANC-1	pancreas:	n/a
46	chr11:62370246-62370296	SK-N-SH	brain:	n/a
47	chr11:62370246-62370296	HEEpiC	esophagus:	n/a
48	chr11:62370246-62370296	HIPEpiC	eye:	n/a
49	chr11:62370246-62370296	HCM	heart:	n/a
50	chr11:62370246-62370296	SK-N-MC	brain:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62368512..62370789-chr11:62571314..62573375,3	K562	blood:
2	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
3	chr11:62367786..62371340-chr11:62553206..62555734,4	K562	blood:
4	chr11:62370041..62371967-chr11:62445972..62447850,2	K562	blood:
5	chr11:62369298..62371279-chr11:62444264..62446347,2	MCF-7	breast:
6	chr11:62369562..62370451-chr8:64080633..64081331,2	Hela-S3	cervix:
7	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
8	chr11:62367185..62372634-chr11:62607154..62610784,6	MCF-7	breast:
9	chr11:62369307..62371737-chr11:62414027..62416633,2	MCF-7	breast:
10	chr11:62366145..62371000-chr11:62493302..62496531,6	K562	blood:
11	chr11:62370075..62372268-chr11:62419892..62421743,2	MCF-7	breast:
12	chr11:62365873..62371127-chr11:62605447..62611263,11	K562	blood:
13	chr11:62367890..62370349-chr11:62493262..62495403,4	K562	blood:
14	chr11:62361223..62372590-chr11:62430599..62435389,30	K562	blood:
15	chr11:62365667..62370630-chr11:62493549..62497299,5	MCF-7	breast:
16	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
17	chr11:62365983..62370724-chr11:62412063..62418373,9	K562	blood:
18	chr11:62367573..62370441-chr11:62435647..62437526,2	K562	blood:
19	chr11:62368856..62371722-chr11:62553192..62555886,2	MCF-7	breast:
20	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
21	chr11:62367640..62370552-chr11:62646699..62650475,4	K562	blood:
22	chr11:62363464..62373052-chr11:62429645..62434985,23	K562	blood:
23	chr11:62367785..62371189-chr11:62419322..62422312,3	K562	blood:
24	chr11:62366689..62370631-chr11:62475430..62478411,3	MCF-7	breast:
25	chr11:62367022..62370613-chr11:62412660..62415093,5	MCF-7	breast:
26	chr11:62368980..62371340-chr11:62553420..62555734,2	K562	blood:
27	chr11:62367086..62370916-chr11:62552894..62556677,4	MCF-7	breast:

No data

Variant related genes	Relation type
MTA2	TF binding region
ENSG00000254964	TF binding region
MTA2	CpG island
ENSG00000254964	CpG island
ENSG00000255432	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	1.00[AMR][1000 genomes]
rs11231140	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62367600-62370400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:62367600-62370600	Active TSS	Ovary	ovary
3	chr11:62367600-62370800	Active TSS	Aorta	Aorta
4	chr11:62367800-62370600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:62367800-62370600	Active TSS	Psoas Muscle	Psoas
6	chr11:62368200-62370400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:62368200-62370400	Active TSS	Colon Smooth Muscle	Colon
8	chr11:62368200-62370400	Active TSS	Fetal Lung	lung
9	chr11:62368200-62370400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:62368200-62370400	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:62368200-62370400	Active TSS	HSMM	muscle
12	chr11:62368200-62370600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:62368200-62370600	Active TSS	Small Intestine	intestine
14	chr11:62368200-62370800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:62368200-62370800	Active TSS	Esophagus	oesophagus
16	chr11:62368400-62370400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:62368400-62370400	Active TSS	Brain Angular Gyrus	brain
18	chr11:62368400-62370400	Active TSS	Fetal Brain Female	brain
19	chr11:62368400-62370600	Active TSS	Brain Anterior Caudate	brain
20	chr11:62368400-62370800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:62368400-62370800	Active TSS	Osteobl	bone
22	chr11:62369400-62370400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:62369400-62370400	Flanking Active TSS	NH-A	brain
24	chr11:62369400-62370600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr11:62369400-62370600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:62369400-62370600	Flanking Active TSS	Placenta	Placenta
27	chr11:62369400-62370800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr11:62369400-62371000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:62369400-62371400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:62369600-62370400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:62369600-62370400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:62369600-62370400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr11:62369600-62370400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:62369600-62370400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:62369600-62370400	Flanking Active TSS	NHEK	skin
36	chr11:62369600-62370600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:62369600-62370600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:62369600-62370600	Enhancers	Fetal Heart	heart
39	chr11:62369600-62370600	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr11:62369600-62370600	Flanking Active TSS	Fetal Thymus	thymus
41	chr11:62369600-62371400	Enhancers	Fetal Brain Male	brain
42	chr11:62369800-62370600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:62369800-62370600	Flanking Active TSS	Pancreas	Pancrea
44	chr11:62369800-62370800	Flanking Active TSS	Colonic Mucosa	Colon
45	chr11:62369800-62371400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:62369800-62371600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:62369800-62372000	Weak transcription	HepG2	liver
48	chr11:62370000-62370400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:62370000-62370400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:62370000-62370400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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