Variant report

Variant	rs1168666
Chromosome Location	chr12:122243905-122243906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:122243014-122244873	A549	lung:	n/a	n/a
2	MAX	chr12:122243804-122244143	A549	lung:	n/a	n/a
3	POLR2A	chr12:122243852-122244162	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr12:122243715-122244581	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr12:122243768-122244113	MCF-7	breast:	n/a	n/a
6	BHLHE40	chr12:122243847-122243977	K562	blood:	n/a	n/a
7	MXI1	chr12:122234637-122245085	SK-N-SH	brain:	n/a	n/a
8	SPI1	chr12:122243884-122244015	K562	blood:	n/a	n/a
9	MYC	chr12:122243848-122244114	MCF-7	breast:	n/a	n/a
10	MYC	chr12:122243802-122243966	HepG2	liver:	n/a	n/a
11	MXI1	chr12:122240530-122245335	IMR90	lung:	n/a	n/a
12	WRNIP1	chr12:122243816-122244016	GM12878	blood:	n/a	n/a
13	MAX	chr12:122243632-122244374	MCF-7	breast:	n/a	n/a
14	MXI1	chr12:122243793-122244359	K562	blood:	n/a	n/a
15	MYC	chr12:122243809-122244186	MCF10A-Er-Src	breast:	n/a	n/a
16	SIN3AK20	chr12:122243718-122244628	A549	lung:	n/a	n/a
17	SIN3A	chr12:122243318-122244509	GM12878	blood:	n/a	n/a
18	MAX	chr12:122243624-122244274	K562	blood:	n/a	n/a
19	MYC	chr12:122243692-122244126	K562	blood:	n/a	n/a
20	ZBTB7A	chr12:122243819-122244163	K562	blood:	n/a	n/a
21	POLR2A	chr12:122243777-122245067	K562	blood:	n/a	n/a
22	MAX	chr12:122243248-122244778	K562	blood:	n/a	n/a
23	TBL1XR1	chr12:122243753-122243937	K562	blood:	n/a	n/a
24	ETS1	chr12:122243840-122244375	K562	blood:	n/a	chr12:122244066-122244080
25	SIN3AK20	chr12:122243653-122244200	A549	lung:	n/a	n/a
26	ELF1	chr12:122243745-122244162	K562	blood:	n/a	chr12:122243964-122243977
27	MYC	chr12:122243848-122244107	MCF-7	breast:	n/a	n/a
28	REST	chr12:122243729-122243964	A549	lung:	n/a	n/a
29	REST	chr12:122243882-122243982	GM12878	blood:	n/a	n/a
30	MAX	chr12:122243633-122244420	HepG2	liver:	n/a	n/a
31	MXI1	chr12:122243720-122244548	GM12878	blood:	n/a	n/a
32	MAX	chr12:122243875-122244072	Hela-S3	cervix:	n/a	n/a
33	SIN3AK20	chr12:122243380-122244728	K562	blood:	n/a	n/a
34	MXI1	chr12:122243818-122244141	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:122243841-122243992	GM12878	blood:	n/a	n/a
36	ZNF263	chr12:122243729-122244943	HEK293-T-REx	kidney:	n/a	chr12:122244024-122244033 chr12:122244567-122244588 chr12:122244347-122244356
37	MAX	chr12:122243382-122244333	GM12878	blood:	n/a	n/a
38	MXI1	chr12:122243803-122244401	HepG2	liver:	n/a	n/a
39	SPI1	chr12:122243874-122244689	HL-60	blood:	n/a	chr12:122244573-122244586 chr12:122244580-122244593
40	ELF1	chr12:122243626-122244146	GM12878	blood:	n/a	chr12:122243964-122243977
41	MXI1	chr12:122243894-122244332	Hela-S3	cervix:	n/a	n/a
42	MAX	chr12:122243848-122244172	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZC3H11A	chr12:122243803-122243984	K562	blood:	n/a	n/a
44	MTA3	chr12:122243588-122244047	GM12878	blood:	n/a	n/a
45	MAX	chr12:122243693-122244328	K562	blood:	n/a	n/a
46	E2F6	chr12:122243894-122244068	K562	blood:	n/a	n/a
47	MAX	chr12:122243827-122244112	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr12:122243868-122244412	K562	blood:	n/a	n/a
49	SIN3A	chr12:122243813-122244879	H1-hESC	embryonic stem cell:	n/a	n/a
50	EBF1	chr12:122243740-122244048	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
2	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
3	chr12:122241918..122243936-chr12:122370973..122373698,2	K562	blood:
4	chr12:122149069..122151072-chr12:122242291..122244324,2	MCF-7	breast:
5	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:

No data

Variant related genes	Relation type
RHOF	TF binding region
ENSG00000212694	TF binding region
ENSG00000188735	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000256950	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs1004390	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11043202	0.94[EUR][1000 genomes]
rs11043203	1.00[CEU][hapmap];0.80[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs11043207	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs1168663	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168664	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168665	0.90[EUR][1000 genomes]
rs1168668	0.91[EUR][1000 genomes]
rs1168669	0.94[EUR][1000 genomes]
rs1168671	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168672	0.94[EUR][1000 genomes]
rs1168673	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837955	0.81[ASN][1000 genomes]
rs12303659	0.81[ASN][1000 genomes]
rs12307227	0.93[EUR][1000 genomes]
rs12823194	0.82[EUR][1000 genomes]
rs12832268	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12832320	0.86[ASN][1000 genomes]
rs1667578	0.94[EUR][1000 genomes]
rs1667579	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795965	0.95[EUR][1000 genomes]
rs1795966	0.82[EUR][1000 genomes]
rs2019561	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2019562	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2122266	0.93[EUR][1000 genomes]
rs2707066	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2707067	0.91[EUR][1000 genomes]
rs28493021	0.86[ASN][1000 genomes]
rs34226605	0.86[ASN][1000 genomes]
rs712852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136373	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7300684	0.86[ASN][1000 genomes]
rs7308123	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7308348	0.86[ASN][1000 genomes]
rs73413732	0.83[ASN][1000 genomes]
rs7957564	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7974348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895951	1.00[CEU][hapmap];0.80[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs895952	0.94[EUR][1000 genomes]
rs895953	1.00[CEU][hapmap];0.80[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs895954	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895957	1.00[CEU][hapmap];0.80[GIH][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs921286	1.00[CEU][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs921287	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs930665	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	esv3344041	chr12:122240869-122244017	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1168666	CCDC60	cis	parietal	SCAN
rs1168666	LOC338799	cis	cerebellum	SCAN
rs1168666	SBNO1	cis	parietal	SCAN
rs1168666	LOC338799	cis	parietal	SCAN
rs1168666	AC084018.1	cis	Skin Sun Exposed Lower leg	GTEx
rs1168666	MPHOSPH9	cis	cerebellum	SCAN
rs1168666	WSB2	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122235200-122245400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:122236800-122245000	Active TSS	Aorta	Aorta
3	chr12:122237200-122244600	Active TSS	Small Intestine	intestine
4	chr12:122237400-122244400	Active TSS	Thymus	Thymus
5	chr12:122237400-122244600	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr12:122237600-122244000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:122237600-122244400	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr12:122238000-122244000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:122238800-122245000	Active TSS	Fetal Kidney	kidney
10	chr12:122240800-122244800	Active TSS	HSMMtube	muscle
11	chr12:122241600-122248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:122242400-122244000	Active TSS	Stomach Mucosa	stomach
13	chr12:122242400-122244800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:122242800-122244600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:122242800-122245000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:122242800-122245200	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr12:122242800-122245800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr12:122243200-122244600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:122243200-122245000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr12:122243200-122245000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:122243200-122245200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:122243200-122245200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr12:122243200-122245200	Flanking Active TSS	NH-A	brain
24	chr12:122243200-122245800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:122243600-122244000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr12:122243600-122244200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:122243600-122244400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:122243600-122244800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr12:122243600-122244800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:122243600-122244800	Flanking Active TSS	HMEC	breast
31	chr12:122243600-122245000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr12:122243600-122245000	Flanking Active TSS	Fetal Brain Male	brain
33	chr12:122243600-122245000	Flanking Active TSS	Right Atrium	heart
34	chr12:122243600-122245000	Flanking Active TSS	HUVEC	blood vessel
35	chr12:122243600-122245200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:122243600-122245200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:122243800-122244000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122243800-122244000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
39	chr12:122243800-122244000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:122243800-122244000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:122243800-122244000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
42	chr12:122243800-122244000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:122243800-122244000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122243800-122244000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:122243800-122244000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr12:122243800-122244000	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:122243800-122244000	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
48	chr12:122243800-122244000	Transcr. at gene 5' and 3'	Spleen	Spleen
49	chr12:122243800-122244000	Transcr. at gene 5' and 3'	K562	blood
50	chr12:122243800-122244000	Flanking Active TSS	Osteobl	bone

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