Variant report

Variant	rs4760318
Chromosome Location	chr12:58087281-58087282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:58087160-58087310	GM12870	blood:	n/a	n/a
2	CTCF	chr12:58087252-58087340	GM19240	blood:	n/a	n/a
3	PML	chr12:58087103-58088359	GM12878	blood:	n/a	n/a
4	CTCF	chr12:58087128-58087899	MCF-7	breast:	n/a	n/a
5	KAP1	chr12:58086992-58088113	HEK293	kidney:	n/a	n/a
6	MYC	chr12:58087156-58087349	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:58087218-58087742	H1-hESC	embryonic stem cell:	n/a	chr12:58087724-58087732
8	TEAD4	chr12:58087244-58088157	K562	blood:	n/a	n/a
9	CTCF	chr12:58087235-58087343	GM19238	blood:	n/a	n/a
10	CTCF	chr12:58087160-58087310	WERI-Rb-1	eye:	n/a	n/a
11	SETDB1	chr12:58087185-58087986	U2OS	brain:	n/a	n/a
12	CEBPB	chr12:58087239-58088292	A549	lung:	n/a	chr12:58087724-58087732
13	MYBL2	chr12:58087198-58088174	HepG2	liver:	n/a	n/a
14	CTCF	chr12:58087242-58087360	GM12892	blood:	n/a	n/a
15	SP1	chr12:58087142-58088363	HCT-116	colon:	n/a	chr12:58088350-58088359 chr12:58088348-58088360 chr12:58088348-58088360 chr12:58088349-58088359
16	MAX	chr12:58087255-58088103	A549	lung:	n/a	n/a
17	MAX	chr12:58087248-58088180	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:58087250-58087784	MCF-7	breast:	n/a	n/a
19	HCFC1	chr12:58087207-58088963	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr12:58087232-58088137	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr12:58087200-58088584	SK-N-SH	brain:	n/a	chr12:58088241-58088250 chr12:58088235-58088253
22	CTCF	chr12:58087237-58087372	GM12891	blood:	n/a	n/a
23	CREB1	chr12:58087212-58088328	HepG2	liver:	n/a	n/a
24	CTCF	chr12:58087234-58087321	ProgFib	skin:	n/a	n/a
25	MYBL2	chr12:58086992-58088117	HepG2	liver:	n/a	n/a
26	MXI1	chr12:58086825-58088941	SK-N-SH	brain:	n/a	n/a
27	CREB1	chr12:58087274-58088302	GM12878	blood:	n/a	n/a
28	SMC3	chr12:58087178-58087831	HepG2	liver:	n/a	n/a
29	TCF12	chr12:58087099-58088444	ECC-1	luminal epithelium:	n/a	chr12:58088278-58088286
30	BCLAF1	chr12:58087278-58087724	GM12878	blood:	n/a	n/a
31	MXI1	chr12:58087214-58088796	IMR90	lung:	n/a	n/a
32	SIN3AK20	chr12:58087229-58088382	MCF-7	breast:	n/a	n/a
33	ARID3A	chr12:58087222-58088064	HepG2	liver:	n/a	n/a
34	TBL1XR1	chr12:58087231-58088112	K562	blood:	n/a	n/a
35	ELF1	chr12:58087213-58088485	MCF-7	breast:	n/a	chr12:58088159-58088170 chr12:58088139-58088150
36	CREB1	chr12:58087281-58088445	K562	blood:	n/a	n/a
37	NRF1	chr12:58087043-58088232	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr12:58087281-58087774	A549	lung:	n/a	chr12:58087567-58087581
39	RUNX3	chr12:58087237-58088298	GM12878	blood:	n/a	n/a
40	MAX	chr12:58087139-58088206	MCF-7	breast:	n/a	n/a
41	MAX	chr12:58087087-58088236	A549	lung:	n/a	n/a
42	CTCF	chr12:58087251-58087344	Fibrobl	skin:	n/a	n/a
43	ARID3A	chr12:58087143-58088049	K562	blood:	n/a	n/a
44	MAX	chr12:58087219-58088189	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr12:58087251-58087338	Gliobla	brain:	n/a	n/a
46	CEBPB	chr12:58086975-58087968	K562	blood:	n/a	chr12:58087724-58087732
47	CTCF	chr12:58086815-58088250	A549	lung:	n/a	chr12:58088241-58088250
48	ELF1	chr12:58087220-58088203	A549	lung:	n/a	chr12:58088159-58088170 chr12:58088139-58088150
49	MAX	chr12:58087254-58088220	K562	blood:	n/a	n/a
50	RAD21	chr12:58087238-58087852	H1-hESC	embryonic stem cell:	n/a	chr12:58087567-58087581

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57915543..57917497-chr12:58086337..58088295,2	K562	blood:
2	chr12:58086909..58089805-chr12:58175888..58177930,2	K562	blood:
3	chr12:57983103..57986007-chr12:58086180..58089172,2	MCF-7	breast:
4	chr12:58080821..58083516-chr12:58085497..58087662,2	MCF-7	breast:
5	chr12:58072546..58075361-chr12:58085496..58087677,2	K562	blood:
6	chr12:58086950..58089833-chr12:58113163..58115231,2	K562	blood:
7	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
8	chr12:57852567..57853136-chr12:58087060..58087719,2	MCF-7	breast:
9	chr12:58026407..58027580-chr12:58087150..58087941,5	MCF-7	breast:
10	chr12:57914055..57914634-chr12:58087066..58087962,2	MCF-7	breast:
11	chr12:58086741..58089162-chr12:58114553..58116663,2	MCF-7	breast:
12	chr12:58086918..58087453-chr12:58130392..58131290,2	K562	blood:
13	chr12:58086381..58087931-chr12:58138408..58140168,2	K562	blood:
14	chr12:58087206..58088752-chr12:58165817..58167834,2	MCF-7	breast:
15	chr12:58062107..58064323-chr12:58086416..58089211,2	K562	blood:
16	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:
17	chr12:57913089..57916136-chr12:58086816..58089656,3	MCF-7	breast:
18	chr12:57983190..57986031-chr12:58086563..58089648,3	K562	blood:

No data

Variant related genes	Relation type
OS9	TF binding region
ENSG00000175197	Chromatin interaction
ENSG00000257342	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000238436	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000166908	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs3211607	1.00[AMR][1000 genomes]
rs3211614	1.00[AMR][1000 genomes]
rs3211618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211627	1.00[AMR][1000 genomes]
rs4016098	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760321	1.00[ASN][1000 genomes]
rs4760322	1.00[AMR][1000 genomes]
rs4760323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760338	1.00[AMR][1000 genomes]
rs7307835	1.00[ASN][1000 genomes]
rs73338229	1.00[EUR][1000 genomes]
rs73338231	1.00[EUR][1000 genomes]
rs73338254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176339	1.00[AMR][1000 genomes]
rs8176344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58086800-58087400	Flanking Active TSS	HepG2	liver
2	chr12:58087000-58087400	Enhancers	Primary B cells from cord blood	blood
3	chr12:58087000-58087400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr12:58087000-58087400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:58087000-58087400	Flanking Active TSS	Liver	Liver
6	chr12:58087000-58087400	Flanking Active TSS	K562	blood
7	chr12:58087000-58087600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:58087000-58087600	Flanking Active TSS	Dnd41	blood
9	chr12:58087000-58088000	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr12:58087000-58088200	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:58087000-58088400	Active TSS	Brain Cingulate Gyrus	brain
12	chr12:58087000-58088600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:58087000-58089000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:58087200-58087400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:58087200-58087400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:58087200-58087400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:58087200-58087400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:58087200-58087400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:58087200-58087400	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:58087200-58087400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr12:58087200-58087400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr12:58087200-58087400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:58087200-58087400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:58087200-58087400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr12:58087200-58087400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:58087200-58087400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:58087200-58087400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:58087200-58087400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:58087200-58087400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:58087200-58087400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:58087200-58087400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:58087200-58087400	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr12:58087200-58087400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:58087200-58087400	Flanking Active TSS	Fetal Brain Male	brain
35	chr12:58087200-58087400	Flanking Active TSS	Fetal Brain Female	brain
36	chr12:58087200-58087400	Enhancers	Fetal Intestine Large	intestine
37	chr12:58087200-58087400	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr12:58087200-58087400	Flanking Active TSS	Fetal Lung	lung
39	chr12:58087200-58087400	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr12:58087200-58087400	Enhancers	Fetal Stomach	stomach
41	chr12:58087200-58087400	Flanking Active TSS	Fetal Thymus	thymus
42	chr12:58087200-58087400	Enhancers	Left Ventricle	heart
43	chr12:58087200-58087400	Enhancers	Ovary	ovary
44	chr12:58087200-58087400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:58087200-58087400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:58087200-58087400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:58087200-58087400	Flanking Active TSS	Right Atrium	heart
48	chr12:58087200-58087400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:58087200-58087400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr12:58087200-58087400	Flanking Active TSS	Thymus	Thymus

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