Variant report

Variant	rs710629
Chromosome Location	chr12:67697856-67697857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67697781..67702337-chr12:67703261..67707738,6	K562	blood:
2	chr12:67660830..67663060-chr12:67697055..67700742,3	K562	blood:
3	chr12:67697667..67699390-chr12:67705731..67708067,2	K562	blood:
4	chr12:67661368..67664788-chr12:67696254..67698548,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10506544	0.89[ASN][1000 genomes]
rs1060350	0.95[ASN][1000 genomes]
rs1066389	0.95[ASN][1000 genomes]
rs1066390	0.95[ASN][1000 genomes]
rs1066391	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1066396	0.95[ASN][1000 genomes]
rs1066398	0.95[ASN][1000 genomes]
rs1066399	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1066404	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784619	0.91[ASN][1000 genomes]
rs10784624	0.81[ASN][1000 genomes]
rs1082700	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1082710	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10878596	0.93[ASN][1000 genomes]
rs10878601	0.85[ASN][1000 genomes]
rs1092600	0.95[ASN][1000 genomes]
rs1112445	0.89[ASN][1000 genomes]
rs11176647	0.86[ASN][1000 genomes]
rs11176657	0.90[ASN][1000 genomes]
rs11176677	0.95[ASN][1000 genomes]
rs11176683	0.95[ASN][1000 genomes]
rs11176690	0.90[ASN][1000 genomes]
rs11176695	0.89[ASN][1000 genomes]
rs11176700	0.85[ASN][1000 genomes]
rs1136080	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1137465	0.95[ASN][1000 genomes]
rs1143954	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1143956	0.93[ASN][1000 genomes]
rs1144939	0.92[ASN][1000 genomes]
rs1152877	0.95[ASN][1000 genomes]
rs1152895	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152896	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1152897	0.92[ASN][1000 genomes]
rs1152898	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1152901	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1152902	0.92[ASN][1000 genomes]
rs1161085	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1161087	0.85[ASN][1000 genomes]
rs1161089	0.95[ASN][1000 genomes]
rs1161090	0.95[ASN][1000 genomes]
rs1161092	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1183126	0.92[ASN][1000 genomes]
rs1184743	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1185918	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12366819	0.95[ASN][1000 genomes]
rs12369715	0.89[ASN][1000 genomes]
rs12370954	0.94[ASN][1000 genomes]
rs12422358	0.89[ASN][1000 genomes]
rs12422968	0.95[ASN][1000 genomes]
rs12424158	0.92[ASN][1000 genomes]
rs1252364	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252386	0.89[ASN][1000 genomes]
rs1252387	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1252388	0.89[ASN][1000 genomes]
rs1252402	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252405	0.92[ASN][1000 genomes]
rs1252407	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252419	0.93[ASN][1000 genomes]
rs1252422	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252424	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12580790	0.92[ASN][1000 genomes]
rs1272089	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1392587	0.93[ASN][1000 genomes]
rs1500431	0.90[ASN][1000 genomes]
rs1583648	0.90[ASN][1000 genomes]
rs1612693	0.89[ASN][1000 genomes]
rs1697232	0.92[ASN][1000 genomes]
rs1697233	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17781745	0.92[ASN][1000 genomes]
rs1921000	0.85[ASN][1000 genomes]
rs2028213	0.95[ASN][1000 genomes]
rs2091698	0.94[ASN][1000 genomes]
rs2118311	0.90[ASN][1000 genomes]
rs2178466	0.82[ASN][1000 genomes]
rs2248751	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2438109	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2576941	0.93[ASN][1000 genomes]
rs3861890	0.90[ASN][1000 genomes]
rs4913538	0.93[ASN][1000 genomes]
rs4913540	0.95[ASN][1000 genomes]
rs4913541	0.90[ASN][1000 genomes]
rs61918267	0.93[ASN][1000 genomes]
rs61920672	0.92[ASN][1000 genomes]
rs698123	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs710626	0.91[ASN][1000 genomes]
rs710627	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs710628	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs710630	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs710800	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7134743	0.89[ASN][1000 genomes]
rs775306	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs775309	0.93[ASN][1000 genomes]
rs775312	0.93[ASN][1000 genomes]
rs775644	0.90[ASN][1000 genomes]
rs775645	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs775651	0.85[ASN][1000 genomes]
rs775652	0.85[ASN][1000 genomes]
rs775655	0.85[ASN][1000 genomes]
rs775660	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs796522	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7968645	0.92[ASN][1000 genomes]
rs7973565	0.91[ASN][1000 genomes]
rs7977430	0.95[ASN][1000 genomes]
rs811820	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs811827	0.92[ASN][1000 genomes]
rs814290	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs710629	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
2	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
8	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
9	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
11	chr12:67678600-67699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:67681000-67698200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
14	chr12:67681200-67699200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:67682200-67699400	Weak transcription	Pancreas	Pancrea
16	chr12:67682200-67709000	Strong transcription	Dnd41	blood
17	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
20	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:67684400-67708400	Strong transcription	GM12878-XiMat	blood
22	chr12:67684800-67698400	Weak transcription	Lung	lung
23	chr12:67684800-67698800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:67684800-67699000	Weak transcription	Gastric	stomach
25	chr12:67685000-67698800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:67685800-67708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:67686200-67708800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:67686200-67711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:67686400-67707800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:67686400-67708800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:67686400-67708800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:67686400-67708800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:67686400-67709000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:67686400-67709000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:67686600-67708600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:67686600-67708800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:67686600-67708800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:67686800-67709000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:67687200-67698400	Weak transcription	Colonic Mucosa	Colon
43	chr12:67687200-67700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:67687200-67708600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:67687600-67708200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr12:67687600-67708600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:67687600-67708800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:67687600-67708800	Strong transcription	Liver	Liver
49	chr12:67687600-67708800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:67687800-67715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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