Variant report

Variant	rs7968587
Chromosome Location	chr12:30908251-30908252
allele	A/G
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	CTCF	chr12:30907725-30908255	GM12892	blood:	n/a	n/a
2	HEY1	chr12:30907511-30908305	K562	blood:	n/a	chr12:30907745-30907760 chr12:30907836-30907851 chr12:30907703-30907718 chr12:30907888-30907903 chr12:30907550-30907565
3	NRF1	chr12:30907982-30908260	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:30907301-30908343	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr12:30907629-30908418	GM12878	blood:	n/a	chr12:30907647-30907656 chr12:30907644-30907653 chr12:30907701-30907714 chr12:30907706-30907719
6	GATA3	chr12:30907631-30908600	A549	lung:	n/a	n/a
7	POLR2A	chr12:30907586-30908417	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr12:30906969-30908372	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr12:30907912-30908264	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr12:30908088-30908355	H1-hESC	embryonic stem cell:	n/a	chr12:30908309-30908316
11	ZBTB7A	chr12:30907104-30908415	ECC-1	luminal epithelium:	n/a	n/a
12	ELF1	chr12:30907653-30908375	GM12878	blood:	n/a	chr12:30907834-30907846 chr12:30907696-30907708
13	POLR2A	chr12:30907278-30908386	A549	lung:	n/a	n/a
14	POLR2A	chr12:30906990-30908446	Hela-S3	cervix:	n/a	n/a
15	FOSL1	chr12:30907697-30908277	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:30907275-30908403	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:30907270-30908334	A549	lung:	n/a	n/a
18	MAX	chr12:30907565-30908490	SK-N-SH	brain:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
19	TCF12	chr12:30907912-30908264	A549	lung:	n/a	chr12:30907993-30908000
20	MYC	chr12:30907539-30908580	A549	lung:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
21	E2F6	chr12:30907771-30908348	A549	lung:	n/a	chr12:30908309-30908316
22	ZNF274	chr12:30907977-30908365	K562	blood:	n/a	n/a
23	POLR2A	chr12:30907157-30908351	K562	blood:	n/a	n/a
24	USF1	chr12:30907906-30908371	H1-hESC	embryonic stem cell:	n/a	chr12:30907990-30908006
25	ZNF143	chr12:30907644-30908255	K562	blood:	n/a	n/a
26	POLR2A	chr12:30907571-30908324	HepG2	liver:	n/a	n/a
27	RELA	chr12:30907506-30908470	GM18951	blood:	n/a	n/a
28	TCF12	chr12:30907668-30908495	ECC-1	luminal epithelium:	n/a	chr12:30907993-30908000
29	POLR2A	chr12:30906381-30908438	HepG2	liver:	n/a	n/a
30	MXI1	chr12:30906275-30908913	IMR90	lung:	n/a	n/a
31	NR2F2	chr12:30907738-30908374	K562	blood:	n/a	n/a
32	GATA3	chr12:30907730-30908549	MCF-7	breast:	n/a	n/a
33	TCF12	chr12:30907846-30908302	H1-hESC	embryonic stem cell:	n/a	chr12:30907993-30908000
34	CEBPB	chr12:30907595-30908867	Hela-S3	cervix:	n/a	chr12:30908831-30908844
35	SMC3	chr12:30906877-30908508	Hela-S3	cervix:	n/a	n/a
36	EP300	chr12:30907675-30908264	T-47D	breast:	n/a	n/a
37	ELF1	chr12:30907720-30908301	HepG2	liver:	n/a	chr12:30907834-30907846
38	CTCF	chr12:30907761-30908252	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:30907495-30908545	K562	blood:	n/a	n/a
40	MAX	chr12:30906907-30908428	Hela-S3	cervix:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
41	POLR2A	chr12:30907917-30908297	GM12891	blood:	n/a	n/a
42	GATA2	chr12:30907925-30908502	K562	blood:	n/a	n/a
43	POLR2A	chr12:30907717-30908374	PFSK-1	brain:	n/a	n/a
44	RUNX3	chr12:30907625-30908455	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:30907494-30908352	GM12878	blood:	n/a	n/a
46	NANOG	chr12:30907807-30908324	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr12:30907608-30908457	HCT-116	colon:	n/a	chr12:30908222-30908234 chr12:30907986-30908000
48	MAZ	chr12:30907647-30908326	HepG2	liver:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
49	MAX	chr12:30907577-30908556	A549	lung:	n/a	chr12:30907833-30907843 chr12:30907901-30907910
50	SP1	chr12:30907586-30908570	A549	lung:	n/a	chr12:30907809-30907823

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:30908244-30908294	HCT-116	colon:	n/a
2	chr12:30908244-30908294	H1-hESC	embryonic stem cell:	embryo
3	chr12:30908244-30908294	HUVEC	blood vessel:	n/a
4	chr12:30908244-30908294	PrEC	prostate:	n/a
5	chr12:30908244-30908294	SAEC	small airway:	n/a
6	chr12:30908244-30908294	HRPEpiC	eye:	n/a
7	chr12:30908244-30908294	AG04450	lung:	fetal
8	chr12:30908244-30908294	HCPEpiC	choroid plexus:	n/a
9	chr12:30908244-30908294	NT2-D1	testis:	n/a
10	chr12:30908244-30908294	HNPCEpiC	eye:	n/a
11	chr12:30908244-30908294	GM06990	blood:	n/a
12	chr12:30908244-30908294	AoSMC	blood vessel:	n/a
13	chr12:30908244-30908294	BJ	skin:	n/a
14	chr12:30908244-30908294	K562	blood:	n/a
15	chr12:30908244-30908294	HEEpiC	esophagus:	n/a
16	chr12:30908244-30908294	ProgFib	skin:	n/a
17	chr12:30908244-30908294	SKMC	muscle:	n/a
18	chr12:30908244-30908294	HRE	kidney:	n/a
19	chr12:30908244-30908294	BE2_C	brain:	n/a
20	chr12:30908244-30908294	GM12891	blood:	n/a
21	chr12:30908244-30908294	HRCEpiC	kidney:	n/a
22	chr12:30908244-30908294	PANC-1	pancreas:	n/a
23	chr12:30908244-30908294	AG10803	skin:	n/a
24	chr12:30908244-30908294	HEK293	kidney:	embryo
25	chr12:30908244-30908294	Hepatocyte	liver:	n/a
26	chr12:30908244-30908294	Hela-S3	cervix:	n/a
27	chr12:30908244-30908294	GM12892	blood:	n/a
28	chr12:30908244-30908294	Caco-2	colon:	n/a
29	chr12:30908244-30908294	PFSK-1	brain:	n/a
30	chr12:30908244-30908294	NH-A	brain:	n/a
31	chr12:30908244-30908294	HMEC	breast:	n/a
32	chr12:30908244-30908294	T-47D	breast:	n/a
33	chr12:30908244-30908294	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:30908244-30908294	CMK	blood:	n/a
35	chr12:30908244-30908294	HL-60	blood:	n/a
36	chr12:30908244-30908294	NHDF-neo	bronchial:	n/a
37	chr12:30908244-30908294	IMR90	lung:	fetal
38	chr12:30908244-30908294	U87	brain:	n/a
39	chr12:30908244-30908294	HAEpiC	amniotic membrane:	n/a
40	chr12:30908244-30908294	HCF	heart:	n/a
41	chr12:30908244-30908294	SK-N-SH	brain:	n/a
42	chr12:30908244-30908294	GM12878	blood:	n/a
43	chr12:30908244-30908294	GM19239	blood:	n/a
44	chr12:30908244-30908294	AG04449	skin:	fetal
45	chr12:30908244-30908294	NB4	blood:	n/a
46	chr12:30908244-30908294	AG09319	gingival:	n/a
47	chr12:30908244-30908294	AG09309	skin:	n/a
48	chr12:30908244-30908294	MCF10A-Er-Src	breast:	n/a
49	chr12:30908244-30908294	SK-N-SH_RA	brain:	n/a
50	chr12:30908244-30908294	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:30845389..30848478-chr12:30907681..30910609,3	K562	blood:
2	chr1:161129253..161129757-chr12:30907615..30908521,2	Hela-S3	cervix:
3	chr12:30908038..30909570-chr12:30918182..30920609,2	K562	blood:
4	chr12:30906304..30909589-chr12:30948532..30951386,3	K562	blood:
5	chr12:30907774..30908278-chr5:32585524..32586521,2	Hela-S3	cervix:
6	chr12:30907876..30908507-chr17:37356246..37356998,2	Hela-S3	cervix:
7	chr12:30902650..30905580-chr12:30906095..30908998,3	MCF-7	breast:
8	chr12:30907673..30908756-chr12:30947349..30948500,4	Hela-S3	cervix:

Variant related genes	Relation type
CAPRIN2	TF binding region
CAPRIN2	CpG island
ENSG00000108298	Chromatin interaction
ENSG00000133704	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000110888	Chromatin interaction
ENSG00000235884	Chromatin interaction
ENSG00000113387	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10743733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743734	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771754	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10771764	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10771769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051013	0.84[EUR][1000 genomes]
rs11051052	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12370429	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13656	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1371049	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1371053	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1866416	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2289301	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2304630	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2352210	0.82[EUR][1000 genomes]
rs2352217	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33132	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3782685	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4143103	0.82[EUR][1000 genomes]
rs4930935	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4930936	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4931356	0.81[EUR][1000 genomes]
rs6487932	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6487933	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7136079	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs718368	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7298007	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7298180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7304879	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7304976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7311651	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963494	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9300199	0.83[AMR][1000 genomes];0.86[EUR][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	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
4	esv3390684	chr12:30906885-30909083	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7968587	IPO8	cis	multi-tissue	Pritchard
rs7968587	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	chr12:30903800-30908400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:30905600-30908600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:30905800-30908800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:30906000-30908600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:30906200-30908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:30906200-30908600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:30906200-30908800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:30906400-30908600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:30906600-30908400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:30906600-30908600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:30906600-30908600	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:30906800-30908400	Active TSS	NHDF-Ad	bronchial
13	chr12:30906800-30908600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:30906800-30908600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:30906800-30908600	Active TSS	Aorta	Aorta
16	chr12:30906800-30908600	Active TSS	Fetal Brain Female	brain
17	chr12:30906800-30908600	Active TSS	Right Ventricle	heart
18	chr12:30906800-30908600	Active TSS	HSMM	muscle
19	chr12:30906800-30908800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:30906800-30908800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:30906800-30908800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:30906800-30909000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:30907000-30908400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:30907000-30908400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:30907000-30908400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:30907000-30908400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:30907000-30908400	Active TSS	Brain Hippocampus Middle	brain
28	chr12:30907000-30908400	Active TSS	Gastric	stomach
29	chr12:30907000-30908400	Active TSS	Ovary	ovary
30	chr12:30907000-30908400	Active TSS	A549	lung
31	chr12:30907000-30908600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:30907000-30908600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:30907000-30908600	Active TSS	Brain Angular Gyrus	brain
34	chr12:30907000-30908600	Active TSS	Colonic Mucosa	Colon
35	chr12:30907000-30908600	Active TSS	Esophagus	oesophagus
36	chr12:30907000-30908600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:30907000-30908600	Active TSS	Fetal Stomach	stomach
38	chr12:30907000-30908600	Active TSS	Psoas Muscle	Psoas
39	chr12:30907000-30908600	Active TSS	NHLF	lung
40	chr12:30907000-30908800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:30907000-30908800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:30907000-30908800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:30907200-30908400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:30907200-30908400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:30907200-30908400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:30907200-30908400	Active TSS	Fetal Intestine Large	intestine
47	chr12:30907200-30908400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr12:30907200-30908400	Active TSS	Small Intestine	intestine
49	chr12:30907200-30908400	Active TSS	Stomach Mucosa	stomach
50	chr12:30907200-30908400	Active TSS	Spleen	Spleen

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