Variant report

Variant	rs56195743
Chromosome Location	chr2:10914867-10914868
allele	A/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	POLR2A	chr2:10914505-10916266	SK-N-MC	brain:	n/a	n/a
2	TCF7L2	chr2:10914200-10914872	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr2:10914570-10914950	Hela-S3	cervix:	n/a	chr2:10914761-10914774
4	TFAP2A	chr2:10913830-10915380	Hela-S3	cervix:	n/a	chr2:10914839-10914847 chr2:10914699-10914714 chr2:10914206-10914216 chr2:10914839-10914847 chr2:10913942-10913953 chr2:10913942-10913953 chr2:10914361-10914373 chr2:10914204-10914218 chr2:10914839-10914847 chr2:10913942-10913953 chr2:10913937-10913952 chr2:10913942-10913953 chr2:10914206-10914216 chr2:10914206-10914216
5	ZNF263	chr2:10914777-10916516	HEK293-T-REx	kidney:	n/a	chr2:10916357-10916366 chr2:10916092-10916101 chr2:10915279-10915288
6	MAX	chr2:10914261-10914893	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:10914682-10915092	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:10914703-10914883	HepG2	liver:	n/a	n/a
9	GTF2F1	chr2:10914387-10915002	Hela-S3	cervix:	n/a	n/a
10	TFAP2C	chr2:10913823-10915409	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10830173..10833165-chr2:10913515..10915175,3	MCF-7	breast:
2	chr2:10850840..10852513-chr2:10914222..10915993,2	MCF-7	breast:
3	chr2:10912736..10915766-chr2:10920191..10922104,3	MCF-7	breast:
4	chr2:10911679..10916866-chr2:10918103..10925152,7	K562	blood:
5	chr2:10913988..10915917-chr2:10917137..10920155,3	MCF-7	breast:
6	chr2:10908984..10911442-chr2:10912799..10914956,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272275	TF binding region
ATP6V1C2	TF binding region
ENSG00000143882	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000272275	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1198844	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1198845	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1198846	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12464402	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12464513	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12468989	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12472302	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12477285	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17365181	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17365209	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17365216	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17455708	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17456162	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1817747	0.87[ASN][1000 genomes]
rs2046793	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306922	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3856466	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55648622	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55675740	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55906240	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55975412	0.83[EUR][1000 genomes]
rs56093996	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56140102	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56143168	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56147885	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56260452	0.85[EUR][1000 genomes]
rs56264212	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56268818	0.85[EUR][1000 genomes]
rs66538971	0.93[EUR][1000 genomes]
rs72777378	0.85[ASN][1000 genomes]
rs72777379	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72777381	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72777384	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72777388	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72777393	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72779425	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72779433	0.85[EUR][1000 genomes];0.83[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:78 , 50 per page) page: 1 2

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	chr2:10904800-10915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:10905600-10918000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:10906200-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:10906200-10918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:10908000-10918200	Weak transcription	Pancreas	Pancrea
8	chr2:10908000-10918400	Weak transcription	Aorta	Aorta
9	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
10	chr2:10908800-10917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:10908800-10918200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:10910800-10917200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:10911400-10917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:10912200-10916200	Enhancers	Placenta	Placenta
15	chr2:10912200-10918200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:10912800-10917600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:10913000-10915400	Enhancers	Fetal Intestine Small	intestine
18	chr2:10913000-10915800	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:10913000-10916000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:10913000-10916000	Enhancers	Fetal Muscle Leg	muscle
21	chr2:10913000-10916200	Enhancers	Fetal Intestine Large	intestine
22	chr2:10913200-10915600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:10913200-10917200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:10913200-10917800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:10913200-10918200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:10913200-10920200	Weak transcription	NH-A	brain
27	chr2:10913400-10915400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:10913400-10917200	Weak transcription	Thymus	Thymus
29	chr2:10913400-10920200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:10913600-10917200	Weak transcription	NHLF	lung
31	chr2:10913600-10918400	Weak transcription	HSMM	muscle
32	chr2:10913600-10919800	Weak transcription	Osteobl	bone
33	chr2:10913800-10915600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:10913800-10915600	Enhancers	HMEC	breast
35	chr2:10913800-10915800	Enhancers	Fetal Lung	lung
36	chr2:10913800-10915800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr2:10913800-10916400	Enhancers	Fetal Heart	heart
38	chr2:10913800-10916600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:10913800-10917200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:10913800-10917200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:10914000-10915000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:10914000-10915600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:10914000-10915600	Enhancers	NHEK	skin
44	chr2:10914000-10916600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:10914200-10915000	Enhancers	Lung	lung
46	chr2:10914200-10915600	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:10914200-10915600	Enhancers	Left Ventricle	heart
48	chr2:10914200-10916000	Enhancers	Right Ventricle	heart
49	chr2:10914200-10917200	Enhancers	Esophagus	oesophagus
50	chr2:10914200-10920000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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