Variant report

Variant	rs56143168
Chromosome Location	chr2:10916233-10916234
allele	A/G
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	ZNF263	chr2:10915113-10916484	K562	blood:	n/a	chr2:10916357-10916366 chr2:10916092-10916101 chr2:10915279-10915288
2	POLR2A	chr2:10916153-10916285	K562	blood:	n/a	n/a
3	POLR2A	chr2:10914505-10916266	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr2:10915153-10919303	K562	blood:	n/a	n/a
5	ZNF263	chr2:10914777-10916516	HEK293-T-REx	kidney:	n/a	chr2:10916357-10916366 chr2:10916092-10916101 chr2:10915279-10915288
6	POLR2A	chr2:10915953-10916511	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10905922..10908917-chr2:10914932..10916687,3	MCF-7	breast:
2	chr2:10911679..10916866-chr2:10918103..10925152,7	K562	blood:

Variant related genes	Relation type
ATP6V1C2	TF binding region
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1198844	0.92[EUR][1000 genomes]
rs1198845	0.92[EUR][1000 genomes]
rs1198846	0.92[EUR][1000 genomes]
rs12463454	0.85[ASN][1000 genomes]
rs12464402	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12464513	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12468989	0.92[EUR][1000 genomes]
rs12471725	0.85[ASN][1000 genomes]
rs12471762	0.85[ASN][1000 genomes]
rs12472302	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12475790	0.85[ASN][1000 genomes]
rs12477285	0.83[EUR][1000 genomes]
rs17365181	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17365209	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17365216	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17455708	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17456162	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1817747	0.82[ASN][1000 genomes]
rs2046793	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306922	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3856465	0.85[ASN][1000 genomes]
rs3856466	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55648622	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55675740	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906240	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55975412	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56093996	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56140102	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56147885	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56195743	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56260452	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56264212	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56268818	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66538971	0.91[EUR][1000 genomes]
rs72777379	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72777381	0.93[EUR][1000 genomes]
rs72777384	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72777388	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72777393	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72779425	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72779433	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72779445	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10904200-10916400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:10904600-10916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:10905600-10918000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:10906200-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:10906200-10918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:10908000-10918200	Weak transcription	Pancreas	Pancrea
7	chr2:10908000-10918400	Weak transcription	Aorta	Aorta
8	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
9	chr2:10908800-10917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:10908800-10918200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:10910800-10917200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:10911400-10917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:10912200-10918200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:10912800-10917600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:10913200-10917200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:10913200-10917800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:10913200-10918200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:10913200-10920200	Weak transcription	NH-A	brain
19	chr2:10913400-10917200	Weak transcription	Thymus	Thymus
20	chr2:10913400-10920200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:10913600-10917200	Weak transcription	NHLF	lung
22	chr2:10913600-10918400	Weak transcription	HSMM	muscle
23	chr2:10913600-10919800	Weak transcription	Osteobl	bone
24	chr2:10913800-10916400	Enhancers	Fetal Heart	heart
25	chr2:10913800-10916600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:10913800-10917200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:10913800-10917200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:10914000-10916600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:10914200-10917200	Enhancers	Esophagus	oesophagus
30	chr2:10914200-10920000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:10914400-10917200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:10914400-10918000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:10914600-10916400	Weak transcription	Fetal Brain Female	brain
34	chr2:10914600-10917400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:10914600-10918400	Weak transcription	HepG2	liver
36	chr2:10914600-10920200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:10914600-10922400	Weak transcription	Fetal Kidney	kidney
38	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:10914800-10916400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:10914800-10917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:10914800-10917400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:10914800-10918600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:10915000-10917400	Weak transcription	Liver	Liver
44	chr2:10915000-10917800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:10915000-10918200	Weak transcription	A549	lung
46	chr2:10915000-10920000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:10915000-10920000	Weak transcription	Brain Angular Gyrus	brain
48	chr2:10915000-10921600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:10915200-10917600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:10915200-10918000	Weak transcription	Colonic Mucosa	Colon

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