Variant report

Variant	rs4760324
Chromosome Location	chr12:58170170-58170171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:58170127-58170225	HepG2	liver:	n/a	n/a
2	CTCF	chr12:58170020-58170170	GM12865	blood:	n/a	n/a
3	TAL1	chr12:58170133-58170221	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58169310..58172664-chr12:58174820..58180538,7	MCF-7	breast:
2	chr12:58168432..58170962-chr12:58239519..58241035,2	K562	blood:

Variant related genes	Relation type
METTL1	TF binding region
ENSG00000266465	TF binding region
ENSG00000175215	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]
rs4760323	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	chr12:58167400-58170800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:58167400-58175600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:58167400-58175600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:58167400-58176000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:58167400-58176200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:58167400-58176200	Weak transcription	Brain Substantia Nigra	brain
33	chr12:58167400-58176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:58167400-58176400	Weak transcription	Colonic Mucosa	Colon
35	chr12:58167400-58176400	Weak transcription	Left Ventricle	heart
36	chr12:58167600-58170400	Weak transcription	Small Intestine	intestine
37	chr12:58167600-58171400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:58167600-58172000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:58167600-58173400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:58167600-58173600	Weak transcription	Pancreas	Pancrea
41	chr12:58167600-58174000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:58167600-58174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:58167600-58174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:58167600-58175800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:58167600-58175800	Weak transcription	HepG2	liver
46	chr12:58167600-58175800	Weak transcription	K562	blood
47	chr12:58167600-58176000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:58167600-58176000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:58167600-58176000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:58167600-58176200	Weak transcription	NH-A	brain

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