Variant report

Variant	rs57263663
Chromosome Location	chr12:121566204-121566205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr12:121566155-121566328	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:121565959-121566522	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121564281..121567226-chr12:121569639..121571152,2	MCF-7	breast:
2	chr12:121565478..121567856-chr12:121646838..121650208,3	K562	blood:
3	chr12:121563121..121566575-chr12:121568260..121572155,4	K562	blood:
4	chr12:121565146..121566829-chr12:121666395..121668307,2	MCF-7	breast:
5	chr12:121561171..121566774-chr12:121646455..121649214,5	MCF-7	breast:
6	chr12:121559257..121561994-chr12:121565943..121568175,2	K562	blood:

No data

Variant related genes	Relation type
P2RX7	TF binding region
ENSG00000135124	Chromatin interaction
ENSG00000089041	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10849842	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1169714	0.91[ASN][1000 genomes]
rs1180009	0.97[ASN][1000 genomes]
rs12312648	0.90[AFR][1000 genomes]
rs12312695	0.90[AFR][1000 genomes]
rs12312758	0.90[AFR][1000 genomes]
rs12320058	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320178	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1718149	0.86[ASN][1000 genomes]
rs1794886	0.86[ASN][1000 genomes]
rs1794898	0.97[ASN][1000 genomes]
rs208288	0.83[ASN][1000 genomes]
rs35646440	0.83[ASN][1000 genomes]
rs3861795	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs487417	0.86[ASN][1000 genomes]
rs510660	0.86[ASN][1000 genomes]
rs511496	0.86[ASN][1000 genomes]
rs535557	0.86[ASN][1000 genomes]
rs56720891	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs568531	0.86[ASN][1000 genomes]
rs57902817	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590477	0.86[ASN][1000 genomes]
rs592340	0.86[ASN][1000 genomes]
rs593223	0.86[ASN][1000 genomes]
rs594423	0.86[ASN][1000 genomes]
rs607094	0.86[ASN][1000 genomes]
rs608425	0.86[ASN][1000 genomes]
rs622937	0.86[ASN][1000 genomes]
rs657995	0.91[ASN][1000 genomes]
rs669547	0.91[ASN][1000 genomes]
rs672140	0.86[ASN][1000 genomes]
rs73421546	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805004	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121562200-121566600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:121562400-121566800	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:121562400-121570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:121562600-121566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:121562600-121566600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:121562600-121566600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:121562600-121566800	Weak transcription	A549	lung
8	chr12:121562800-121566800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:121562800-121566800	Weak transcription	Fetal Heart	heart
10	chr12:121562800-121569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:121562800-121570400	Weak transcription	Ovary	ovary
12	chr12:121563000-121566800	Weak transcription	NHEK	skin
13	chr12:121563000-121569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:121563600-121566600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:121564000-121566600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:121564000-121566600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:121564000-121567400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:121564000-121568600	Enhancers	Liver	Liver
19	chr12:121564200-121570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:121565000-121566600	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:121565000-121567600	Enhancers	Right Atrium	heart
22	chr12:121565000-121567600	Enhancers	Stomach Mucosa	stomach
23	chr12:121565200-121569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:121565400-121566800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:121565400-121568400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:121565600-121567800	Enhancers	Spleen	Spleen
27	chr12:121565800-121566600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:121565800-121566600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:121565800-121566600	Enhancers	GM12878-XiMat	blood
30	chr12:121565800-121566800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:121565800-121566800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:121565800-121566800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr12:121565800-121567000	Enhancers	Primary B cells from cord blood	blood
34	chr12:121565800-121567000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:121565800-121567600	Enhancers	Right Ventricle	heart
36	chr12:121565800-121567800	Enhancers	Left Ventricle	heart
37	chr12:121565800-121568400	Enhancers	Fetal Thymus	thymus
38	chr12:121565800-121570600	Enhancers	Placenta	Placenta
39	chr12:121566000-121566400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:121566000-121566400	Enhancers	Brain Angular Gyrus	brain
41	chr12:121566000-121566600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:121566000-121566600	Enhancers	Brain Anterior Caudate	brain
43	chr12:121566000-121566600	Enhancers	Brain Hippocampus Middle	brain
44	chr12:121566000-121566600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:121566000-121566600	Weak transcription	Gastric	stomach
46	chr12:121566000-121566600	Enhancers	Small Intestine	intestine
47	chr12:121566000-121566600	Enhancers	Dnd41	blood
48	chr12:121566000-121566600	Enhancers	K562	blood
49	chr12:121566000-121566800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:121566000-121566800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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