Variant report

Variant	rs11174416
Chromosome Location	chr12:62688413-62688414
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62685750..62688478-chr12:62691387..62693441,2	MCF-7	breast:
2	chr12:62686999..62689791-chr12:62697810..62699486,2	MCF-7	breast:
3	chr12:62650924..62654188-chr12:62688256..62690932,4	K562	blood:
4	chr12:62661583..62664398-chr12:62686936..62688522,2	MCF-7	breast:
5	chr12:62652239..62655569-chr12:62686648..62690779,4	MCF-7	breast:
6	chr12:62685329..62689047-chr12:62691891..62696883,6	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10431509	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10431510	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431565	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459253	0.83[ASN][1000 genomes]
rs10506440	0.84[ASN][1000 genomes]
rs10747958	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10784292	0.81[ASN][1000 genomes]
rs10877819	0.98[ASN][1000 genomes]
rs10877820	0.87[ASN][1000 genomes]
rs10877824	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877826	0.84[ASN][1000 genomes]
rs10877829	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877831	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174401	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174404	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174408	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174409	0.87[ASN][1000 genomes]
rs11174410	0.87[ASN][1000 genomes]
rs11174411	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174412	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174417	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174418	0.87[ASN][1000 genomes]
rs11174420	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174423	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174424	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174428	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174431	0.84[ASN][1000 genomes]
rs11174433	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174435	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174436	0.81[ASN][1000 genomes]
rs11174437	0.81[ASN][1000 genomes]
rs11174438	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174449	0.84[ASN][1000 genomes]
rs11504121	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11504122	0.82[ASN][1000 genomes]
rs11561463	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11830242	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836268	0.84[ASN][1000 genomes]
rs12228015	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12229271	0.82[ASN][1000 genomes]
rs12231778	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12297474	0.84[ASN][1000 genomes]
rs12299072	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12306066	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12307900	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310318	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310616	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12310651	0.84[ASN][1000 genomes]
rs12311259	0.82[ASN][1000 genomes]
rs12311279	0.87[ASN][1000 genomes]
rs12315645	0.83[ASN][1000 genomes]
rs12317437	0.82[ASN][1000 genomes]
rs12318287	0.84[ASN][1000 genomes]
rs1376342	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1496859	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1901239	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2131434	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131435	0.87[ASN][1000 genomes]
rs2132651	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2242032	0.96[ASN][1000 genomes]
rs28526400	0.84[ASN][1000 genomes]
rs35634758	0.87[ASN][1000 genomes]
rs3803106	0.87[ASN][1000 genomes]
rs6581444	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67044039	0.87[ASN][1000 genomes]
rs67853252	0.87[ASN][1000 genomes]
rs7132814	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133294	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7137068	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7295013	0.87[ASN][1000 genomes]
rs7298827	0.87[ASN][1000 genomes]
rs7300928	0.87[ASN][1000 genomes]
rs7302033	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302617	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953967	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965326	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7974973	0.83[ASN][1000 genomes]
rs7976058	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902971	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
2	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:62674800-62688600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:62676600-62688600	Weak transcription	Ovary	ovary
5	chr12:62677000-62688600	Weak transcription	Fetal Kidney	kidney
6	chr12:62679400-62696800	Weak transcription	Fetal Brain Male	brain
7	chr12:62682800-62688600	Weak transcription	HepG2	liver
8	chr12:62683200-62688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:62683600-62697600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:62685000-62688600	Weak transcription	Primary B cells from cord blood	blood
12	chr12:62685000-62689400	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:62685000-62691000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:62685200-62688600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:62685400-62691200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:62685800-62688600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:62685800-62688600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:62685800-62688600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:62685800-62690400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:62686000-62688600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:62686000-62688600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:62686200-62688600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:62686200-62688600	Weak transcription	Colonic Mucosa	Colon
24	chr12:62686200-62688600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:62686200-62688600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:62686200-62688600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:62686200-62688600	Weak transcription	HSMM	muscle
28	chr12:62686200-62688800	Weak transcription	NHEK	skin
29	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:62686400-62688600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:62686400-62688600	Weak transcription	Spleen	Spleen
32	chr12:62686400-62688600	Weak transcription	A549	lung
33	chr12:62686400-62688600	Weak transcription	Hela-S3	cervix
34	chr12:62686400-62690600	Weak transcription	Esophagus	oesophagus
35	chr12:62686400-62698200	Weak transcription	Small Intestine	intestine
36	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:62686600-62688600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:62686600-62688600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:62686600-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:62686600-62688600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:62686600-62689600	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:62686600-62696600	Weak transcription	NH-A	brain
43	chr12:62686800-62688600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:62686800-62688600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:62686800-62688600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:62686800-62688600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:62686800-62688600	Weak transcription	Psoas Muscle	Psoas
48	chr12:62686800-62688600	Weak transcription	Thymus	Thymus
49	chr12:62686800-62688800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:62686800-62697000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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