Variant report

Variant	rs12274689
Chromosome Location	chr11:62648265-62648266
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:477)
CpG islands
(count:122)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62647770-62649522	GM12878	blood:	n/a	n/a
2	REST	chr11:62648247-62648613	HepG2	liver:	n/a	chr11:62648470-62648488
3	MYC	chr11:62647930-62649574	H1-hESC	embryonic stem cell:	n/a	chr11:62649208-62649217 chr11:62649557-62649566
4	ETS1	chr11:62648187-62648966	K562	blood:	n/a	chr11:62648224-62648238
5	FOS	chr11:62648257-62648387	MCF10A-Er-Src	breast:	n/a	n/a
6	REST	chr11:62648197-62648562	SK-N-SH	brain:	n/a	chr11:62648470-62648488
7	NFATC1	chr11:62647988-62648659	GM12878	blood:	n/a	n/a
8	CHD2	chr11:62647906-62649396	GM12878	blood:	n/a	chr11:62648309-62648319
9	STAT3	chr11:62648207-62648434	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr11:62648169-62649513	MCF-7	breast:	n/a	chr11:62649208-62649217
11	MAX	chr11:62647995-62649490	MCF-7	breast:	n/a	chr11:62649208-62649217
12	FOSL2	chr11:62648219-62649376	MCF-7	breast:	n/a	chr11:62649133-62649141 chr11:62649134-62649145 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649131-62649143
13	PBX3	chr11:62648149-62648826	A549	lung:	n/a	n/a
14	POLR2A	chr11:62647549-62652363	U87	brain:	n/a	n/a
15	CREB1	chr11:62647987-62649522	H1-hESC	embryonic stem cell:	n/a	n/a
16	PAX5	chr11:62648195-62649012	GM12892	blood:	n/a	n/a
17	TCF7L2	chr11:62647956-62649515	Hela-S3	cervix:	n/a	chr11:62649132-62649141
18	POLR2A	chr11:62648173-62649394	GM10847	blood:	n/a	n/a
19	MAX	chr11:62648041-62649472	SK-N-SH	brain:	n/a	chr11:62649208-62649217
20	POLR2A	chr11:62647758-62649624	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr11:62648142-62649418	GM12878	blood:	n/a	n/a
22	STAT3	chr11:62648104-62648462	MCF10A-Er-Src	breast:	n/a	chr11:62648160-62648168 chr11:62648160-62648183
23	NFATC1	chr11:62648109-62649052	GM12878	blood:	n/a	n/a
24	BRCA1	chr11:62648238-62649015	GM12878	blood:	n/a	n/a
25	MAX	chr11:62648107-62649413	H1-hESC	embryonic stem cell:	n/a	chr11:62649208-62649217
26	JUND	chr11:62648179-62649432	MCF-7	breast:	n/a	chr11:62649133-62649141 chr11:62649131-62649142 chr11:62649134-62649145 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649132-62649142 chr11:62649131-62649143
27	GTF2B	chr11:62648253-62649292	K562	blood:	n/a	n/a
28	CHD2	chr11:62648111-62649603	K562	blood:	n/a	chr11:62648309-62648319
29	ETS1	chr11:62648069-62649391	K562	blood:	n/a	chr11:62648224-62648238
30	EP300	chr11:62648094-62649328	GM12878	blood:	n/a	chr11:62648270-62648286
31	POLR2A	chr11:62647455-62649898	PANC-1	pancreas:	n/a	n/a
32	BHLHE40	chr11:62647771-62649680	K562	blood:	n/a	chr11:62647977-62647993 chr11:62648309-62648325 chr11:62648348-62648364
33	STAT5A	chr11:62647656-62649038	GM12878	blood:	n/a	chr11:62648160-62648168 chr11:62648160-62648183
34	EGR1	chr11:62647952-62648622	MCF-7	breast:	n/a	chr11:62648312-62648322
35	POLR2A	chr11:62647110-62659411	PFSK-1	brain:	n/a	n/a
36	NR2F2	chr11:62647550-62649619	K562	blood:	n/a	n/a
37	YY1	chr11:62648188-62649052	A549	lung:	n/a	chr11:62648328-62648339 chr11:62648348-62648362
38	POLR2A	chr11:62647898-62649465	GM19193	blood:	n/a	n/a
39	ELF1	chr11:62648082-62649100	K562	blood:	n/a	n/a
40	POLR2A	chr11:62647941-62649519	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:62648102-62649341	Raji	blood:	n/a	n/a
42	CHD2	chr11:62648161-62649427	Hela-S3	cervix:	n/a	chr11:62648309-62648319
43	POLR2A	chr11:62647788-62652250	K562	blood:	n/a	n/a
44	CTCF	chr11:62647690-62649787	SK-N-SH	brain:	n/a	n/a
45	NRF1	chr11:62648240-62648901	H1-hESC	embryonic stem cell:	n/a	chr11:62648312-62648321
46	STAT1	chr11:62648061-62649362	GM12878	blood:	n/a	chr11:62649267-62649279 chr11:62648160-62648168 chr11:62649052-62649064 chr11:62648160-62648183
47	POLR2A	chr11:62647848-62649426	GM12892	blood:	n/a	n/a
48	POLR2A	chr11:62648187-62649462	K562	blood:	n/a	n/a
49	CTCF	chr11:62648063-62649243	A549	lung:	n/a	n/a
50	PBX3	chr11:62648194-62649250	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62648244-62648294	IMR90	lung:	fetal
2	chr11:62648244-62648294	HRE	kidney:	n/a
3	chr11:62648238-62648288	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:62648238-62648288	K562	blood:	n/a
5	chr11:62648244-62648294	HAEpiC	amniotic membrane:	n/a
6	chr11:62648238-62648288	SKMC	muscle:	n/a
7	chr11:62648238-62648288	SK-N-MC	brain:	n/a
8	chr11:62648238-62648288	CMK	blood:	n/a
9	chr11:62648244-62648294	PANC-1	pancreas:	n/a
10	chr11:62648244-62648294	ProgFib	skin:	n/a
11	chr11:62648244-62648294	HMEC	breast:	n/a
12	chr11:62648238-62648288	ovcar-3	ovarian:	n/a
13	chr11:62648244-62648294	Jurkat	blood:	n/a
14	chr11:62648244-62648294	AG04449	skin:	fetal
15	chr11:62648244-62648294	GM12878	blood:	n/a
16	chr11:62648244-62648294	Hepatocyte	liver:	n/a
17	chr11:62648244-62648294	SKMC	muscle:	n/a
18	chr11:62648244-62648294	U87	brain:	n/a
19	chr11:62648238-62648288	HL-60	blood:	n/a
20	chr11:62648238-62648288	AG04449	skin:	fetal
21	chr11:62648238-62648288	BJ	skin:	n/a
22	chr11:62648238-62648288	GM12891	blood:	n/a
23	chr11:62648244-62648294	AG09319	gingival:	n/a
24	chr11:62648238-62648288	HEEpiC	esophagus:	n/a
25	chr11:62648238-62648288	HCF	heart:	n/a
26	chr11:62648244-62648294	AG04450	lung:	fetal
27	chr11:62648238-62648288	NH-A	brain:	n/a
28	chr11:62648238-62648288	AG09309	skin:	n/a
29	chr11:62648238-62648288	HepG2	liver:	n/a
30	chr11:62648244-62648294	HL-60	blood:	n/a
31	chr11:62648244-62648294	HEEpiC	esophagus:	n/a
32	chr11:62648238-62648288	AoSMC	blood vessel:	n/a
33	chr11:62648238-62648288	PANC-1	pancreas:	n/a
34	chr11:62648244-62648294	BE2_C	brain:	n/a
35	chr11:62648244-62648294	MCF-7	breast:	n/a
36	chr11:62648244-62648294	AG09309	skin:	n/a
37	chr11:62648244-62648294	GM12892	blood:	n/a
38	chr11:62648244-62648294	HRPEpiC	eye:	n/a
39	chr11:62648244-62648294	MCF10A-Er-Src	breast:	n/a
40	chr11:62648238-62648288	NT2-D1	testis:	n/a
41	chr11:62648238-62648288	T-47D	breast:	n/a
42	chr11:62648238-62648288	HCPEpiC	choroid plexus:	n/a
43	chr11:62648238-62648288	HIPEpiC	eye:	n/a
44	chr11:62648238-62648288	GM12892	blood:	n/a
45	chr11:62648238-62648288	GM06990	blood:	n/a
46	chr11:62648244-62648294	AoSMC	blood vessel:	n/a
47	chr11:62648244-62648294	A549	lung:	n/a
48	chr11:62648238-62648288	Hepatocyte	liver:	n/a
49	chr11:62648244-62648294	GM19239	blood:	n/a
50	chr11:62648238-62648288	MCF10A-Er-Src	breast:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62648055..62648850-chr14:75745199..75745842,2	Hela-S3	cervix:
2	chr1:84543599..84544134-chr11:62648019..62648854,2	Hela-S3	cervix:
3	chr11:62648238..62648742-chr18:61637231..61637807,2	Hela-S3	cervix:
4	chr11:62535249..62539593-chr11:62647377..62651642,6	K562	blood:
5	chr11:62417050..62420796-chr11:62647729..62650585,3	K562	blood:
6	chr11:62393128..62395925-chr11:62647491..62649507,2	K562	blood:
7	chr11:62357563..62359095-chr11:62646957..62649775,2	K562	blood:
8	chr11:62648257..62649092-chr20:45985368..45985883,2	NB4	blood:
9	chr11:62608723..62609316-chr11:62647563..62648351,2	NB4	blood:
10	chr11:62431843..62435669-chr11:62647350..62651900,6	K562	blood:
11	chr11:62472359..62475828-chr11:62647268..62649751,3	K562	blood:
12	chr11:62647907..62648905-chr5:10760946..10761689,2	Hela-S3	cervix:
13	chr11:62436644..62439359-chr11:62646545..62649165,3	MCF-7	breast:
14	chr11:62491208..62492713-chr11:62647494..62650289,2	K562	blood:
15	chr11:62339901..62342185-chr11:62647277..62648815,2	K562	blood:
16	chr11:62647607..62649189-chr6:26216943..26218786,2	MCF-7	breast:
17	chr11:62357563..62359193-chr11:62647721..62650234,3	K562	blood:
18	chr11:62520275..62522946-chr11:62645985..62649381,3	K562	blood:
19	chr11:62492683..62497467-chr11:62646838..62651892,11	MCF-7	breast:
20	chr11:62568262..62574296-chr11:62646831..62652869,25	K562	blood:
21	chr11:62608283..62609997-chr11:62648116..62649062,5	MCF-7	breast:
22	chr11:62492996..62496945-chr11:62646247..62651278,7	K562	blood:
23	chr11:62367640..62370552-chr11:62646699..62650475,4	K562	blood:
24	chr11:62521216..62523210-chr11:62647073..62650275,3	MCF-7	breast:
25	chr11:62570028..62574835-chr11:62645876..62651719,9	MCF-7	breast:
26	chr11:62646885..62648514-chr7:148821203..148823858,2	MCF-7	breast:
27	chr11:62647917..62648896-chr22:43010853..43011360,2	Hela-S3	cervix:
28	chr11:62491044..62492713-chr11:62648215..62650289,2	K562	blood:
29	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
30	chr11:62647065..62649717-chr20:58515490..58517271,2	MCF-7	breast:
31	chr11:62537178..62539067-chr11:62647194..62649874,3	MCF-7	breast:
32	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
33	chr11:62645804..62648522-chr12:133562375..133564190,2	MCF-7	breast:
34	chr11:62432088..62434387-chr11:62647031..62649538,2	MCF-7	breast:
35	chr11:62557524..62562234-chr11:62648109..62651861,7	MCF-7	breast:
36	chr11:62648165..62648854-chr16:56967899..56968887,2	Hela-S3	cervix:
37	chr11:62437394..62440869-chr11:62646713..62650476,3	MCF-7	breast:
38	chr11:62648007..62648558-chr19:59055244..59055770,2	Hela-S3	cervix:
39	chr11:62552792..62555847-chr11:62647130..62649597,5	MCF-7	breast:
40	chr11:62322655..62325440-chr11:62647674..62649903,2	MCF-7	breast:
41	chr11:62561630..62563637-chr11:62647744..62650258,2	K562	blood:
42	chr11:62544506..62546986-chr11:62647497..62649225,2	K562	blood:
43	chr11:62547790..62550201-chr11:62647689..62650271,2	K562	blood:
44	chr11:62648174..62648773-chr19:49468140..49468998,2	NB4	blood:
45	chr11:62551512..62560180-chr11:62645894..62651775,24	K562	blood:
46	chr11:62358169..62360257-chr11:62648192..62650722,2	MCF-7	breast:
47	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:
48	chr11:62444978..62447315-chr11:62646743..62649778,3	K562	blood:

No data

Variant related genes	Relation type
SLC3A2	TF binding region
SLC3A2	CpG island
ENSG00000267811	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000272324	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000198393	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000166401	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000196227	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000130726	Chromatin interaction
ENSG00000204947	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000051108	Chromatin interaction
ENSG00000142875	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000112977	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000197024	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000271576	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000240877	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12292281	1.00[YRI][hapmap]
rs12295052	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12295208	1.00[AMR][1000 genomes]
rs73490010	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
4	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
5	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62630800-62648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62647200-62648600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:62647200-62648800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:62647200-62648800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr11:62647200-62649400	Active TSS	Fetal Brain Female	brain
6	chr11:62647200-62652000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
7	chr11:62647400-62648400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:62647400-62651800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr11:62647600-62648400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:62647600-62648400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:62647600-62648400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr11:62647600-62648400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:62647600-62649400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:62647600-62649400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:62647600-62650000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:62647600-62650000	Active TSS	Psoas Muscle	Psoas
17	chr11:62647600-62650000	Active TSS	Right Ventricle	heart
18	chr11:62647600-62650400	Active TSS	Aorta	Aorta
19	chr11:62647800-62648400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:62647800-62648400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:62647800-62649000	Transcr. at gene 5' and 3'	Right Atrium	heart
22	chr11:62647800-62649200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:62647800-62649200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:62647800-62649400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:62647800-62649400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:62647800-62649400	Active TSS	Brain Angular Gyrus	brain
27	chr11:62647800-62649600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:62647800-62649600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:62647800-62649600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:62647800-62649800	Active TSS	Small Intestine	intestine
31	chr11:62647800-62650000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:62647800-62650000	Active TSS	Lung	lung
33	chr11:62647800-62650200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:62647800-62650200	Active TSS	Brain Substantia Nigra	brain
35	chr11:62647800-62650200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr11:62647800-62650200	Active TSS	HSMMtube	muscle
37	chr11:62647800-62650200	Active TSS	NHDF-Ad	bronchial
38	chr11:62647800-62650400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:62647800-62650400	Active TSS	Ovary	ovary
40	chr11:62647800-62650800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:62648000-62648400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:62648000-62648400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:62648000-62648400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:62648000-62648800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:62648000-62648800	Bivalent/Poised TSS	HepG2	liver
46	chr11:62648000-62649200	Active TSS	Brain Germinal Matrix	brain
47	chr11:62648000-62649200	Active TSS	Fetal Brain Male	brain
48	chr11:62648000-62649400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:62648000-62649400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:62648000-62649400	Active TSS	Brain Hippocampus Middle	brain

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