Variant report

Variant	rs11172211
Chromosome Location	chr12:57822799-57822800
allele	C/G
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:13)
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	POLR2A	chr12:57821571-57823060	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:57821228-57824428	SK-N-MC	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
2	chr12:57808026..57810781-chr12:57822669..57824932,3	MCF-7	breast:
3	chr12:57675498..57678307-chr12:57822743..57825602,2	MCF-7	breast:
4	chr12:57664699..57666780-chr12:57821580..57823850,2	K562	blood:
5	chr12:57672368..57674775-chr12:57822497..57825097,2	K562	blood:
6	chr12:57821945..57826454-chr12:57843844..57847049,4	K562	blood:
7	chr12:57685797..57688003-chr12:57821497..57823959,2	K562	blood:
8	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
9	chr12:57822102..57825804-chr12:57846903..57851131,6	MCF-7	breast:
10	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
11	chr12:57734038..57735691-chr12:57822012..57824605,2	MCF-7	breast:
12	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
13	chr12:57654294..57656088-chr12:57822678..57824554,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258001	TF binding region
ENSG00000268367	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000201198	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000139269	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10783823	0.80[EUR][1000 genomes]
rs10876976	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876977	0.84[EUR][1000 genomes]
rs10876978	0.87[EUR][1000 genomes]
rs10876980	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876981	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876983	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11172177	0.84[ASN][1000 genomes]
rs11172190	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172191	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172205	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172214	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172222	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12230111	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12369598	0.86[ASN][1000 genomes]
rs12423654	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12579911	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12582640	0.82[ASN][1000 genomes]
rs1284252	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1798710	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2063778	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280139	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28504983	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4108243	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4760228	0.86[EUR][1000 genomes]
rs4760236	0.86[EUR][1000 genomes]
rs4760244	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4760305	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4760306	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4760308	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs481196	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs491750	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs492749	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs512223	0.86[EUR][1000 genomes]
rs533975	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs537482	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs543410	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs560048	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs568793	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs575153	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6581139	0.80[EUR][1000 genomes]
rs7132367	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7303070	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7980310	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9738004	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57770800-57824000	Weak transcription	Gastric	stomach
3	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
4	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:57788600-57823200	Weak transcription	NHDF-Ad	bronchial
6	chr12:57789200-57823000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:57789400-57823200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:57790000-57823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:57795400-57823000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:57795400-57823200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:57795400-57823200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:57795400-57823200	Weak transcription	HMEC	breast
13	chr12:57795400-57823600	Weak transcription	Aorta	Aorta
14	chr12:57795800-57823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:57795800-57823200	Weak transcription	Right Ventricle	heart
16	chr12:57808000-57823000	Weak transcription	NH-A	brain
17	chr12:57809400-57823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:57809400-57823200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:57809600-57822800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:57809600-57823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:57809600-57823200	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:57809600-57823400	Weak transcription	Fetal Kidney	kidney
23	chr12:57809800-57823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:57810200-57823400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:57810200-57823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:57811200-57823000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:57811400-57822800	Weak transcription	A549	lung
28	chr12:57812000-57822800	Weak transcription	Hela-S3	cervix
29	chr12:57812000-57823200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:57812200-57823200	Weak transcription	Brain Anterior Caudate	brain
31	chr12:57812200-57823200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:57812200-57823200	Weak transcription	Ovary	ovary
33	chr12:57812600-57822800	Weak transcription	Right Atrium	heart
34	chr12:57812600-57823200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:57812600-57823200	Weak transcription	Pancreas	Pancrea
36	chr12:57812600-57823200	Weak transcription	HSMMtube	muscle
37	chr12:57813000-57823200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:57814000-57823200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:57814600-57822800	Weak transcription	K562	blood
40	chr12:57814600-57823000	Weak transcription	HUVEC	blood vessel
41	chr12:57814800-57822800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:57814800-57823200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:57815000-57823000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:57815000-57823200	Weak transcription	Colonic Mucosa	Colon
45	chr12:57815000-57823200	Weak transcription	Psoas Muscle	Psoas
46	chr12:57815200-57823200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:57815600-57823200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:57816600-57822800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:57816600-57822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:57816600-57823000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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