Variant report

Variant	rs1010230
Chromosome Location	chr17:46202965-46202966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46202062..46204690-chr17:46205157..46208075,2	K562	blood:
2	chr17:46194453..46197293-chr17:46201950..46204423,2	MCF-7	breast:
3	chr17:46123246..46128677-chr17:46197755..46203630,8	MCF-7	breast:
4	chr17:46183960..46186242-chr17:46200589..46203810,3	K562	blood:
5	chr17:46202789..46205247-chr17:46215518..46217432,2	K562	blood:
6	chr17:46107614..46109746-chr17:46202771..46206014,3	K562	blood:
7	chr17:46175748..46179895-chr17:46202616..46205569,5	MCF-7	breast:
8	chr17:46197608..46199562-chr17:46200754..46203056,2	MCF-7	breast:
9	chr17:46202062..46204213-chr17:46205157..46207474,2	K562	blood:
10	chr17:46161493..46163130-chr17:46201549..46203706,2	MCF-7	breast:
11	chr17:46202911..46205247-chr17:46215503..46217018,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000108468	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1002330	0.80[ASN][1000 genomes]
rs1010228	1.00[ASN][1000 genomes]
rs10445377	0.80[ASN][1000 genomes]
rs10853097	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10853098	0.80[ASN][1000 genomes]
rs11079806	0.82[ASN][1000 genomes]
rs11079808	0.92[ASN][1000 genomes]
rs11079809	1.00[ASN][1000 genomes]
rs11649919	0.83[ASN][1000 genomes]
rs11651097	0.83[ASN][1000 genomes]
rs11655407	0.83[ASN][1000 genomes]
rs12450620	0.81[ASN][1000 genomes]
rs12600980	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12936369	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12936731	0.81[ASN][1000 genomes]
rs12939334	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12939514	0.88[ASN][1000 genomes]
rs12941295	0.92[ASN][1000 genomes]
rs12941830	0.80[ASN][1000 genomes]
rs12943543	0.92[ASN][1000 genomes]
rs12946143	0.83[ASN][1000 genomes]
rs12946208	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12947089	0.80[ASN][1000 genomes]
rs12950213	0.88[ASN][1000 genomes]
rs12950402	0.92[ASN][1000 genomes]
rs12952163	0.83[ASN][1000 genomes]
rs1316657	0.80[ASN][1000 genomes]
rs1452662	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1452663	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1452665	0.89[ASN][1000 genomes]
rs16951519	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16953927	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16953941	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16954268	0.81[EUR][1000 genomes]
rs16954324	0.81[EUR][1000 genomes]
rs17681336	0.80[ASN][1000 genomes]
rs1860862	0.84[ASN][1000 genomes]
rs1860863	0.84[ASN][1000 genomes]
rs1860866	1.00[ASN][1000 genomes]
rs1979897	0.81[EUR][1000 genomes]
rs2021752	0.80[ASN][1000 genomes]
rs2023885	0.81[EUR][1000 genomes]
rs2041572	0.84[ASN][1000 genomes]
rs2051821	0.83[ASN][1000 genomes]
rs208005	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208008	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208009	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208011	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs208012	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs208015	0.88[ASN][1000 genomes]
rs208019	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2109983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109984	0.92[ASN][1000 genomes]
rs2229369	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240120	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240121	0.83[ASN][1000 genomes]
rs2325783	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2325784	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2325804	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2325885	0.89[ASN][1000 genomes]
rs34949267	0.80[ASN][1000 genomes]
rs34980108	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35361214	0.83[ASN][1000 genomes]
rs35688835	0.92[ASN][1000 genomes]
rs36071506	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3744346	1.00[ASN][1000 genomes]
rs3744347	0.88[ASN][1000 genomes]
rs3785737	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792692	0.80[ASN][1000 genomes]
rs3815472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3897789	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3944039	0.84[ASN][1000 genomes]
rs4794441	0.92[ASN][1000 genomes]
rs4794448	0.92[ASN][1000 genomes]
rs4794449	0.92[ASN][1000 genomes]
rs4794450	0.87[ASN][1000 genomes]
rs4794451	0.92[ASN][1000 genomes]
rs4794453	0.92[ASN][1000 genomes]
rs4995899	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55696440	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55920502	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58203448	0.83[ASN][1000 genomes]
rs58554000	0.81[EUR][1000 genomes]
rs58595405	0.83[ASN][1000 genomes]
rs58624511	0.81[ASN][1000 genomes]
rs62064953	0.91[ASN][1000 genomes]
rs6504024	0.83[ASN][1000 genomes]
rs6504025	0.83[ASN][1000 genomes]
rs6504031	0.92[ASN][1000 genomes]
rs6504032	0.90[ASN][1000 genomes]
rs67345313	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6847	0.83[ASN][1000 genomes]
rs71356520	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71356521	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71369829	0.81[ASN][1000 genomes]
rs7209585	0.91[ASN][1000 genomes]
rs7209730	1.00[ASN][1000 genomes]
rs7212202	0.81[ASN][1000 genomes]
rs7213339	0.87[ASN][1000 genomes]
rs7217496	0.83[ASN][1000 genomes]
rs7218700	0.96[ASN][1000 genomes]
rs7220520	0.88[ASN][1000 genomes]
rs7220922	0.80[ASN][1000 genomes]
rs7221441	0.88[ASN][1000 genomes]
rs7222136	1.00[ASN][1000 genomes]
rs7223867	0.80[ASN][1000 genomes]
rs7224014	0.83[ASN][1000 genomes]
rs7224461	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225550	0.80[ASN][1000 genomes]
rs7225865	0.82[ASN][1000 genomes]
rs741058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758999	0.84[ASN][1000 genomes]
rs8065670	0.92[ASN][1000 genomes]
rs8065993	0.92[ASN][1000 genomes]
rs8066049	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8066391	0.94[ASN][1000 genomes]
rs8069889	0.81[ASN][1000 genomes]
rs8071199	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8075500	0.90[ASN][1000 genomes]
rs8076380	0.92[ASN][1000 genomes]
rs8077860	0.92[ASN][1000 genomes]
rs8078125	0.83[ASN][1000 genomes]
rs8079616	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8080662	0.92[ASN][1000 genomes]
rs875065	0.83[ASN][1000 genomes]
rs875066	0.83[ASN][1000 genomes]
rs9747001	0.82[ASN][1000 genomes]
rs978263	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9807087	1.00[ASN][1000 genomes]
rs9889470	0.80[ASN][1000 genomes]
rs9890691	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9899275	0.81[ASN][1000 genomes]
rs9899461	0.81[ASN][1000 genomes]
rs9903692	0.91[ASN][1000 genomes]
rs9909933	0.89[ASN][1000 genomes]
rs9910516	0.92[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1010230	CBX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:46188200-46207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:46189400-46204200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:46190000-46204800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:46190400-46205000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:46191600-46204600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:46191800-46204600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:46192400-46204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:46192400-46205400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr17:46192800-46205600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:46194400-46204600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:46194800-46205000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr17:46196800-46204800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:46196800-46208800	Weak transcription	K562	blood
16	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:46198400-46204800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:46198800-46203400	Strong transcription	HMEC	breast
19	chr17:46199400-46204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:46199400-46212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:46199600-46203400	Weak transcription	Psoas Muscle	Psoas
22	chr17:46199800-46209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr17:46200000-46204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr17:46200200-46203000	Weak transcription	Esophagus	oesophagus
25	chr17:46200200-46203200	Weak transcription	Colonic Mucosa	Colon
26	chr17:46200200-46203400	Weak transcription	HSMM	muscle
27	chr17:46200200-46204000	Weak transcription	HUVEC	blood vessel
28	chr17:46200200-46204800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr17:46200200-46205000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr17:46200200-46206000	Weak transcription	Pancreas	Pancrea
31	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:46200600-46203200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:46200600-46203200	Weak transcription	Fetal Brain Female	brain
34	chr17:46200600-46204200	Weak transcription	Hela-S3	cervix
35	chr17:46200600-46205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:46200600-46206400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:46200600-46209000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:46200600-46209600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:46200800-46203000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr17:46200800-46203400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:46200800-46203400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr17:46200800-46204600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:46200800-46204800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr17:46200800-46204800	Weak transcription	NHDF-Ad	bronchial
45	chr17:46200800-46204800	Weak transcription	NHLF	lung
46	chr17:46200800-46207400	Weak transcription	Right Ventricle	heart
47	chr17:46200800-46208400	Weak transcription	Colon Smooth Muscle	Colon
48	chr17:46200800-46209000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:46200800-46212400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr17:46201000-46203000	Weak transcription	A549	lung

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