Variant report

Variant	rs60455691
Chromosome Location	chr11:74204591-74204592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:324)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:74204029-74204961	K562	blood:	n/a	n/a
2	TAF1	chr11:74204149-74204742	PFSK-1	brain:	n/a	n/a
3	EP300	chr11:74204274-74204618	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:74204009-74205068	NB4	blood:	n/a	n/a
5	POLR2A	chr11:74203927-74204841	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:74204002-74205089	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr11:74204073-74204938	Hela-S3	cervix:	n/a	n/a
8	MYBL2	chr11:74203989-74204885	HepG2	liver:	n/a	n/a
9	TCF3	chr11:74204149-74204900	GM12878	blood:	n/a	n/a
10	JUND	chr11:74204499-74204967	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUN	chr11:74203805-74205537	K562	blood:	n/a	n/a
12	JUND	chr11:74203984-74205242	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFIC	chr11:74204495-74204811	GM12878	blood:	n/a	n/a
14	CREB1	chr11:74203965-74205020	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:74204098-74205006	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:74204255-74204893	SK-N-SH	brain:	n/a	n/a
17	CHD2	chr11:74203971-74204934	GM12878	blood:	n/a	n/a
18	MAX	chr11:74203963-74205051	HepG2	liver:	n/a	n/a
19	MXI1	chr11:74204093-74205014	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:74204159-74204739	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:74203811-74205078	PFSK-1	brain:	n/a	n/a
22	PML	chr11:74203917-74205042	MCF-7	breast:	n/a	n/a
23	TAF1	chr11:74204183-74204864	HepG2	liver:	n/a	n/a
24	REST	chr11:74204209-74204862	ECC-1	luminal epithelium:	n/a	n/a
25	GTF2F1	chr11:74203980-74205019	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr11:74204018-74204927	Hela-S3	cervix:	n/a	n/a
27	TCF12	chr11:74204167-74204926	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:74203964-74204797	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOXM1	chr11:74203830-74204911	GM12878	blood:	n/a	n/a
30	TAF1	chr11:74203885-74204928	PFSK-1	brain:	n/a	n/a
31	FOXM1	chr11:74203895-74204900	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:74203969-74204978	K562	blood:	n/a	n/a
33	TAL1	chr11:74204045-74204741	K562	blood:	n/a	n/a
34	CHD2	chr11:74204107-74204619	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:74203950-74205058	HepG2	liver:	n/a	n/a
36	NRF1	chr11:74204183-74204599	H1-hESC	embryonic stem cell:	n/a	chr11:74204408-74204419 chr11:74204218-74204227 chr11:74204366-74204377
37	POLR2A	chr11:74204135-74204886	GM12891	blood:	n/a	n/a
38	CREB1	chr11:74203947-74205072	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:74203880-74205590	MCF10A-Er-Src	breast:	n/a	n/a
40	MAZ	chr11:74203987-74204988	K562	blood:	n/a	n/a
41	POLR2A	chr11:74203893-74205090	GM12891	blood:	n/a	n/a
42	PML	chr11:74204220-74204862	K562	blood:	n/a	n/a
43	SIN3A	chr11:74203924-74204849	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:74203984-74204835	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr11:74203986-74205211	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr11:74203954-74205192	ECC-1	luminal epithelium:	n/a	n/a
47	ELF1	chr11:74203971-74204903	MCF-7	breast:	n/a	n/a
48	MAFK	chr11:74204030-74204921	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr11:74204129-74204973	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:74203862-74205175	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74204283..74204932-chr13:48611614..48612146,2	Hela-S3	cervix:
2	chr10:126106993..126107608-chr11:74204160..74204849,2	Hela-S3	cervix:
3	chr11:74204211..74205020-chr16:74734088..74734697,2	Hela-S3	cervix:
4	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
5	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
6	chr11:74204273..74205120-chr12:108955828..108956400,2	Hela-S3	cervix:
7	chr11:74204419..74204973-chr6:123110245..123110887,2	Hela-S3	cervix:
8	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:
9	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
10	chr1:145382677..145383294-chr11:74204286..74204811,2	Hela-S3	cervix:
11	chr11:74203150..74205819-chr11:74301632..74306352,4	MCF-7	breast:
12	chr11:74203709..74204682-chr11:75526078..75526626,2	Hela-S3	cervix:
13	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
14	chr11:74196733..74198968-chr11:74202003..74205722,4	K562	blood:
15	chr11:74204339..74204947-chr12:7052537..7053170,2	Hela-S3	cervix:
16	chr11:74204313..74206449-chr16:3506549..3509156,2	MCF-7	breast:
17	chr11:74185351..74193647-chr11:74202565..74206845,12	MCF-7	breast:
18	chr1:185286539..185287111-chr11:74204400..74204998,2	Hela-S3	cervix:
19	chr11:74204304..74205190-chr11:78285459..78286026,2	Hela-S3	cervix:
20	chr11:74203931..74204800-chr22:40742102..40742878,2	NB4	blood:
21	chr1:17222169..17223164-chr11:74203977..74204800,2	HCT-116	colon:
22	chr11:74203316..74206013-chr11:74301160..74305311,5	MCF-7	breast:
23	chr11:74196620..74198242-chr11:74204138..74205722,2	K562	blood:

No data

Variant related genes	Relation type
LIPT2	TF binding region
POLD3	TF binding region
ENSG00000137513	Chromatin interaction
ENSG00000273004	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000172594	Chromatin interaction
ENSG00000254974	Chromatin interaction
ENSG00000136003	Chromatin interaction
ENSG00000262621	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000239900	Chromatin interaction
ENSG00000255444	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000175538	Chromatin interaction
ENSG00000122390	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000065154	Chromatin interaction
ENSG00000207005	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1145663	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1145664	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1280087	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1280088	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1280089	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1280091	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1280350	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1280351	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1621859	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1787105	0.91[AMR][1000 genomes]
rs589283	0.88[ASN][1000 genomes]
rs600554	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs605834	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs641213	0.88[ASN][1000 genomes]
rs679050	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
7	nsv897913	chr11:74171997-74216705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv555444	chr11:74200739-74221170	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 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	chr11:74203200-74205000	Active TSS	HSMM	muscle
2	chr11:74203200-74205800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:74203400-74204800	Weak transcription	Fetal Heart	heart
4	chr11:74203400-74205000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:74203400-74205000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:74203400-74205200	Active TSS	Brain Germinal Matrix	brain
7	chr11:74203400-74205400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:74203400-74205600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:74203600-74204800	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr11:74203600-74205000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:74203600-74205000	Active TSS	A549	lung
12	chr11:74203600-74205000	Active TSS	K562	blood
13	chr11:74203600-74205200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:74203600-74205400	Active TSS	HSMMtube	muscle
15	chr11:74203600-74205600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:74203800-74204800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:74203800-74204800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr11:74203800-74204800	Active TSS	NH-A	brain
19	chr11:74203800-74205000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:74203800-74205000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:74203800-74205000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:74203800-74205000	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:74203800-74205000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:74203800-74205000	Active TSS	Brain Anterior Caudate	brain
25	chr11:74203800-74205000	Active TSS	Brain Hippocampus Middle	brain
26	chr11:74203800-74205000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:74203800-74205000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:74203800-74205000	Active TSS	Fetal Kidney	kidney
29	chr11:74203800-74205000	Active TSS	Fetal Muscle Leg	muscle
30	chr11:74203800-74205000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:74203800-74205000	Active TSS	Stomach Smooth Muscle	stomach
32	chr11:74203800-74205000	Active TSS	NHLF	lung
33	chr11:74203800-74205200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr11:74203800-74205200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:74203800-74205200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:74203800-74205200	Active TSS	Colonic Mucosa	Colon
37	chr11:74203800-74205200	Active TSS	Fetal Brain Female	brain
38	chr11:74203800-74205200	Active TSS	Fetal Intestine Small	intestine
39	chr11:74203800-74205200	Active TSS	Fetal Muscle Trunk	muscle
40	chr11:74203800-74205200	Active TSS	Psoas Muscle	Psoas
41	chr11:74203800-74205200	Active TSS	Right Ventricle	heart
42	chr11:74204000-74204600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:74204000-74204800	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr11:74204000-74205000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:74204000-74205000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:74204000-74205000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:74204000-74205000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:74204000-74205000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:74204000-74205000	Active TSS	Brain Angular Gyrus	brain
50	chr11:74204000-74205000	Active TSS	Brain Substantia Nigra	brain

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