Variant report

Variant	rs4760323
Chromosome Location	chr12:58169902-58169903
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:58169760-58169910	GM12869	blood:	n/a	n/a
2	MAZ	chr12:58169829-58169917	K562	blood:	n/a	n/a
3	CTCF	chr12:58169780-58169930	GM12865	blood:	n/a	n/a
4	CTCF	chr12:58169722-58169944	H1-hESC	embryonic stem cell:	n/a	n/a
5	ELF1	chr12:58169586-58169947	K562	blood:	n/a	chr12:58169791-58169804
6	CTCF	chr12:58169736-58169930	HepG2	liver:	n/a	n/a
7	CTCF	chr12:58169780-58169930	AG10803	skin:	n/a	n/a
8	CTCF	chr12:58169760-58169910	GM12866	blood:	n/a	n/a
9	CTCF	chr12:58169780-58169918	HepG2	liver:	n/a	n/a
10	JUND	chr12:58169749-58169942	K562	blood:	n/a	n/a
11	CTCF	chr12:58169820-58169970	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr12:58169696-58170000	K562	blood:	n/a	n/a
13	CTCF	chr12:58169672-58169924	K562	blood:	n/a	n/a
14	CTCF	chr12:58169820-58169970	HMF	breast:	n/a	n/a
15	CTCF	chr12:58169800-58169950	GM12867	blood:	n/a	n/a
16	CTCF	chr12:58169747-58169911	K562	blood:	n/a	n/a
17	CTCF	chr12:58169800-58169950	HMEC	breast:	n/a	n/a
18	CTCF	chr12:58169760-58169910	GM12868	blood:	n/a	n/a
19	CTCF	chr12:58169685-58169969	GM12878	blood:	n/a	n/a
20	CTCF	chr12:58169760-58169910	HEK293	kidney:	n/a	n/a
21	CTCF	chr12:58169860-58170010	HVMF	connective:	n/a	n/a
22	CTCF	chr12:58169783-58169917	GM10266	blood:	n/a	n/a
23	CTCF	chr12:58169780-58169930	GM12873	blood:	n/a	n/a
24	CTCF	chr12:58169751-58169928	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr12:58169820-58169970	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr12:58169663-58169978	A549	lung:	n/a	n/a
27	CTCF	chr12:58169760-58169910	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr12:58169820-58169970	GM12870	blood:	n/a	n/a
29	CTCF	chr12:58169840-58169990	GM12873	blood:	n/a	n/a
30	CTCF	chr12:58169800-58169950	GM12878	blood:	n/a	n/a
31	CTCF	chr12:58169760-58169910	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr12:58169880-58170030	MCF-7	breast:	n/a	n/a
33	ZNF143	chr12:58169805-58169981	K562	blood:	n/a	n/a
34	CTCF	chr12:58169820-58169970	GM12866	blood:	n/a	n/a
35	CTCF	chr12:58169748-58169923	GM12878	blood:	n/a	n/a
36	CTCF	chr12:58169820-58169970	RPTEC	kidney:	n/a	n/a
37	POLR2A	chr12:58169889-58169920	K562	blood:	n/a	n/a
38	CTCF	chr12:58169780-58169930	GM12868	blood:	n/a	n/a
39	CTCF	chr12:58169659-58170024	K562	blood:	n/a	n/a
40	CTCF	chr12:58169780-58169930	GM12864	blood:	n/a	n/a
41	CTCF	chr12:58169800-58169950	GM12871	blood:	n/a	n/a
42	ELK1	chr12:58169886-58169913	K562	blood:	n/a	n/a
43	CTCF	chr12:58169780-58169930	HCT-116	colon:	n/a	n/a
44	NR2F2	chr12:58169448-58169940	K562	blood:	n/a	n/a
45	CTCF	chr12:58169780-58169930	GM06990	blood:	n/a	n/a
46	CTCF	chr12:58169780-58169930	RPTEC	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:58169310..58172664-chr12:58174820..58180538,7	MCF-7	breast:
2	chr12:58168432..58170962-chr12:58239519..58241035,2	K562	blood:
3	chr12:57912814..57915992-chr12:58164344..58170030,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266465	TF binding region
METTL1	TF binding region
ENSG00000175215	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000123297	Chromatin interaction

Extended variants
information (count: 29 )
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]
rs4760318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760321	1.00[ASN][1000 genomes]
rs4760322	1.00[AMR][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:7 , 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	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
4	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong 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	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58166800-58176600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:58167000-58172400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:58167000-58173600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:58167000-58173600	Weak transcription	Esophagus	oesophagus
5	chr12:58167000-58174000	Weak transcription	Aorta	Aorta
6	chr12:58167000-58175600	Weak transcription	Spleen	Spleen
7	chr12:58167000-58175800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:58167000-58176400	Weak transcription	Gastric	stomach
9	chr12:58167200-58171800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:58167200-58172000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:58167200-58173600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:58167200-58173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:58167200-58174000	Weak transcription	Primary T cells from cord blood	blood
14	chr12:58167200-58174000	Weak transcription	Brain Germinal Matrix	brain
15	chr12:58167200-58174000	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:58167200-58174200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:58167200-58174200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:58167200-58174400	Weak transcription	Liver	Liver
19	chr12:58167200-58174600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:58167200-58175600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:58167200-58176000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:58167200-58176000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:58167200-58176400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:58167200-58176400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:58167200-58176400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:58167200-58176400	Weak transcription	Right Ventricle	heart
27	chr12:58167400-58170000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:58167400-58170800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:58167400-58175600	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:58167400-58175600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:58167400-58176000	Weak transcription	Fetal Intestine Large	intestine
32	chr12:58167400-58176200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:58167400-58176200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:58167400-58176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:58167400-58176400	Weak transcription	Colonic Mucosa	Colon
36	chr12:58167400-58176400	Weak transcription	Left Ventricle	heart
37	chr12:58167600-58170000	Weak transcription	NHLF	lung
38	chr12:58167600-58170400	Weak transcription	Small Intestine	intestine
39	chr12:58167600-58171400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:58167600-58172000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:58167600-58173400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:58167600-58173600	Weak transcription	Pancreas	Pancrea
43	chr12:58167600-58174000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:58167600-58174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:58167600-58174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:58167600-58175800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:58167600-58175800	Weak transcription	HepG2	liver
48	chr12:58167600-58175800	Weak transcription	K562	blood
49	chr12:58167600-58176000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:58167600-58176000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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