Variant report

Variant	rs2241828
Chromosome Location	chr12:30848329-30848330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:30847888-30849229	K562	blood:	n/a	chr12:30849010-30849020 chr12:30848696-30848706
2	MAX	chr12:30847893-30848334	H1-hESC	embryonic stem cell:	n/a	n/a
3	UBTF	chr12:30848202-30849135	K562	blood:	n/a	n/a
4	ZBTB7A	chr12:30847745-30849139	ECC-1	luminal epithelium:	n/a	chr12:30848668-30848677 chr12:30848746-30848755 chr12:30848455-30848462
5	MXI1	chr12:30847967-30848355	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr12:30847902-30849038	ECC-1	luminal epithelium:	n/a	chr12:30848668-30848677 chr12:30848746-30848755 chr12:30848455-30848462
7	CTCF	chr12:30847780-30849063	K562	blood:	n/a	chr12:30848584-30848593 chr12:30848712-30848725 chr12:30848442-30848455
8	TBL1XR1	chr12:30848093-30849200	K562	blood:	n/a	n/a
9	ELF1	chr12:30848141-30849169	GM12878	blood:	n/a	chr12:30848599-30848611 chr12:30848831-30848842
10	RCOR1	chr12:30847290-30849259	K562	blood:	n/a	n/a
11	MAX	chr12:30847813-30848358	A549	lung:	n/a	n/a
12	POLR2A	chr12:30848301-30849145	ECC-1	luminal epithelium:	n/a	n/a
13	ZMIZ1	chr12:30848239-30849190	K562	blood:	n/a	n/a
14	JUND	chr12:30848016-30849098	H1-hESC	embryonic stem cell:	n/a	chr12:30848814-30848823
15	ZNF263	chr12:30847581-30849241	HEK293-T-REx	kidney:	n/a	chr12:30848821-30848842
16	POLR2A	chr12:30847870-30849248	ECC-1	luminal epithelium:	n/a	n/a
17	CHD2	chr12:30847925-30849170	Hela-S3	cervix:	n/a	chr12:30848743-30848753
18	YY1	chr12:30848261-30849243	NT2-D1	testis:	n/a	chr12:30848444-30848458 chr12:30848347-30848358 chr12:30848597-30848608 chr12:30848905-30848927
19	MAX	chr12:30848309-30848501	K562	blood:	n/a	n/a
20	YY1	chr12:30848171-30849233	HepG2	liver:	n/a	chr12:30848444-30848458 chr12:30848347-30848358 chr12:30848597-30848608 chr12:30848905-30848927
21	JUND	chr12:30847906-30849367	K562	blood:	n/a	chr12:30848814-30848823
22	REST	chr12:30847845-30849472	H1-neurons	neurons:	n/a	chr12:30848432-30848445 chr12:30848419-30848432
23	CTCF	chr12:30848300-30848580	MCF-7	breast:	n/a	chr12:30848442-30848455
24	POLR2A	chr12:30848137-30849424	PFSK-1	brain:	n/a	n/a
25	CHD1	chr12:30848049-30848492	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:30847956-30848373	Hela-S3	cervix:	n/a	n/a
27	E2F6	chr12:30847921-30849247	K562	blood:	n/a	chr12:30849008-30849019 chr12:30848007-30848016 chr12:30848745-30848754 chr12:30848815-30848827
28	POLR2A	chr12:30847681-30849175	MCF10A-Er-Src	breast:	n/a	n/a
29	CTCF	chr12:30847910-30849055	GM12878	blood:	n/a	chr12:30848584-30848593 chr12:30848712-30848725 chr12:30848442-30848455
30	MXI1	chr12:30847300-30849489	SK-N-SH	brain:	n/a	n/a
31	ZBTB7A	chr12:30848318-30848620	HepG2	liver:	n/a	chr12:30848455-30848462
32	HDAC2	chr12:30848301-30848982	HepG2	liver:	n/a	n/a
33	MTA3	chr12:30848023-30849271	GM12878	blood:	n/a	n/a
34	CTCF	chr12:30848261-30848772	K562	blood:	n/a	chr12:30848584-30848593 chr12:30848712-30848725 chr12:30848442-30848455
35	TAF1	chr12:30847959-30849189	ECC-1	luminal epithelium:	n/a	n/a
36	MAX	chr12:30847875-30849263	H1-hESC	embryonic stem cell:	n/a	chr12:30849010-30849020 chr12:30848696-30848706
37	POLR2A	chr12:30847247-30849662	GM12878	blood:	n/a	n/a
38	JUND	chr12:30848325-30848483	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr12:30848134-30849072	H1-hESC	embryonic stem cell:	n/a	n/a
40	PML	chr12:30847839-30849317	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:30847966-30849214	GM18951	blood:	n/a	n/a
42	MAZ	chr12:30848198-30849469	GM12878	blood:	n/a	chr12:30849010-30849020 chr12:30848696-30848706
43	POLR2A	chr12:30847916-30849270	GM18505	blood:	n/a	n/a
44	CCNT2	chr12:30848264-30849112	K562	blood:	n/a	chr12:30848691-30848700
45	SRF	chr12:30847908-30848366	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr12:30847921-30849184	K562	blood:	n/a	chr12:30849010-30849020 chr12:30848696-30848706
47	CTCF	chr12:30847957-30848869	IMR90	lung:	n/a	chr12:30848584-30848593 chr12:30848712-30848725 chr12:30848442-30848455
48	CHD1	chr12:30847921-30848657	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:30848318-30849227	H1-neurons	neurons:	n/a	n/a
50	HCFC1	chr12:30847513-30849856	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:30840558..30845484-chr12:30846630..30850252,8	K562	blood:
2	chr12:30848203..30850367-chr12:31477649..31479869,2	K562	blood:
3	chr12:30840520..30843164-chr12:30846192..30848468,2	MCF-7	breast:
4	chr12:30845389..30848478-chr12:30907681..30910609,3	K562	blood:

Variant related genes	Relation type
IPO8	TF binding region
ENSG00000110888	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000246331	Chromatin interaction
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10444423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734793	0.85[ASN][1000 genomes]
rs10743729	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771745	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771756	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10771757	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771760	0.86[ASN][1000 genomes]
rs10771761	0.86[ASN][1000 genomes]
rs10771762	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771768	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10843804	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843813	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843814	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843815	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843818	0.86[ASN][1000 genomes]
rs10843819	0.86[ASN][1000 genomes]
rs10843820	0.86[ASN][1000 genomes]
rs10843821	0.86[ASN][1000 genomes]
rs10843822	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10843823	0.86[ASN][1000 genomes]
rs10843824	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10843827	0.85[ASN][1000 genomes]
rs10843828	0.85[ASN][1000 genomes]
rs10843829	0.83[ASN][1000 genomes]
rs10843831	0.84[ASN][1000 genomes]
rs10843832	0.85[ASN][1000 genomes]
rs10843833	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10843834	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843835	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11051005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11051008	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11051010	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051045	0.86[ASN][1000 genomes]
rs11051047	0.85[ASN][1000 genomes]
rs11051048	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11051049	0.85[ASN][1000 genomes]
rs11051050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051053	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11051061	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11051063	0.81[ASN][1000 genomes]
rs11835180	0.85[ASN][1000 genomes]
rs12146709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12303852	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12368923	0.86[ASN][1000 genomes]
rs12369125	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12370947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12579616	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12809335	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12825440	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12826615	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12830910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278558	0.85[EUR][1000 genomes]
rs2289302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304630	0.90[JPT][hapmap]
rs35133495	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35336533	0.86[ASN][1000 genomes]
rs36074842	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4082413	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4335626	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59177896	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61923728	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487928	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487934	0.86[ASN][1000 genomes]
rs6487936	0.86[ASN][1000 genomes]
rs6487939	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7299800	0.86[ASN][1000 genomes]
rs7304221	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7952744	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7955804	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957141	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7958274	0.83[ASN][1000 genomes]
rs7958276	0.85[ASN][1000 genomes]
rs7966063	0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971762	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7971870	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7979718	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7980510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2241828	IPO8	Cis_1M	lymphoblastoid	RTeQTL
rs2241828	IPO8	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30846400-30849400	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:30846800-30848400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr12:30846800-30849400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:30847000-30848400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:30847000-30848400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:30847000-30849000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr12:30847200-30848400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:30847200-30849000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr12:30847400-30848400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:30847400-30849000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr12:30847400-30849200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:30847400-30849200	Active TSS	Fetal Intestine Small	intestine
13	chr12:30847400-30849200	Active TSS	Lung	lung
14	chr12:30847400-30849200	Active TSS	Pancreas	Pancrea
15	chr12:30847400-30849400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:30847400-30849400	Active TSS	Aorta	Aorta
17	chr12:30847400-30849400	Active TSS	Fetal Muscle Trunk	muscle
18	chr12:30847400-30849400	Active TSS	Right Atrium	heart
19	chr12:30847400-30849400	Active TSS	GM12878-XiMat	blood
20	chr12:30847400-30849800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:30847400-30849800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:30847400-30850400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:30847600-30848400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr12:30847600-30848400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:30847600-30848400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr12:30847600-30848800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:30847600-30849000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:30847600-30849000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:30847600-30849200	Active TSS	Left Ventricle	heart
30	chr12:30847600-30849200	Active TSS	Right Ventricle	heart
31	chr12:30847600-30849200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr12:30847600-30849400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:30847600-30849400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:30847600-30849400	Active TSS	Brain Anterior Caudate	brain
35	chr12:30847600-30849400	Active TSS	Fetal Intestine Large	intestine
36	chr12:30847600-30849400	Active TSS	Ovary	ovary
37	chr12:30847600-30849400	Active TSS	NHDF-Ad	bronchial
38	chr12:30847600-30849600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:30847600-30849600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:30847600-30849600	Active TSS	Colonic Mucosa	Colon
41	chr12:30847600-30849600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:30847600-30849600	Active TSS	NHLF	lung
43	chr12:30847600-30849800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr12:30847600-30849800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:30847600-30849800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:30847600-30849800	Active TSS	Duodenum Mucosa	Duodenum
47	chr12:30847800-30848400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:30847800-30848400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:30847800-30849000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:30847800-30849000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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