Variant report

Variant	rs7304221
Chromosome Location	chr12:30899480-30899481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30896873..30900728-chr12:30906376..30910229,3	MCF-7	breast:
2	chr12:30897584..30899613-chr12:30901110..30903756,2	K562	blood:
3	chr12:30897584..30899597-chr12:30900908..30902610,2	K562	blood:
4	chr12:30898396..30901084-chr12:30906438..30909429,2	K562	blood:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10444423	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10743729	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10771765	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771766	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771767	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843804	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10843814	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10843816	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10843817	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10843822	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10843824	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs10843833	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051005	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11051050	0.90[JPT][hapmap]
rs11051053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051061	0.90[JPT][hapmap]
rs12146709	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12303852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305697	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370429	0.92[ASN][1000 genomes]
rs12370947	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12809335	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12830910	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1866416	0.82[ASN][1000 genomes]
rs2241828	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2289302	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2304630	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35925509	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4082413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6487933	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6487938	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304976	0.92[ASN][1000 genomes]
rs7952744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957226	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966063	0.80[JPT][hapmap]
rs7971762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980510	0.85[CHB][hapmap];0.90[JPT][hapmap]

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
rs7304221	IPO8	cis	Artery Tibial	GTEx
rs7304221	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
3	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
4	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:30871400-30900800	Weak transcription	K562	blood
7	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:30872400-30903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:30876000-30906600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:30878000-30904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:30878000-30904400	Weak transcription	Pancreas	Pancrea
12	chr12:30878200-30906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:30878800-30906600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:30879800-30905800	Weak transcription	NHLF	lung
15	chr12:30882000-30906800	Weak transcription	Psoas Muscle	Psoas
16	chr12:30882200-30905600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:30882200-30905800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:30882200-30906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:30882200-30906400	Weak transcription	Lung	lung
20	chr12:30882200-30906400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:30882200-30906600	Weak transcription	Placenta	Placenta
22	chr12:30882200-30906800	Weak transcription	Esophagus	oesophagus
23	chr12:30882400-30905400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:30882400-30906600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:30882600-30905400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:30882600-30906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:30882600-30906400	Weak transcription	Right Ventricle	heart
28	chr12:30882800-30906800	Weak transcription	Gastric	stomach
29	chr12:30883200-30905800	Weak transcription	HSMMtube	muscle
30	chr12:30883200-30906400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:30884800-30905800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:30885000-30905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:30886600-30906400	Weak transcription	Brain Substantia Nigra	brain
34	chr12:30886800-30905800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:30888400-30906800	Weak transcription	Fetal Intestine Large	intestine
36	chr12:30888600-30904200	Weak transcription	Hela-S3	cervix
37	chr12:30889200-30905800	Weak transcription	Fetal Stomach	stomach
38	chr12:30889200-30906200	Weak transcription	Thymus	Thymus
39	chr12:30892400-30899600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:30892400-30899600	Weak transcription	Fetal Heart	heart
41	chr12:30892400-30900000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:30892400-30906400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:30892400-30906400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:30892600-30903400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:30892600-30906400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:30893000-30899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:30893000-30903200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:30893200-30899600	Weak transcription	Liver	Liver
49	chr12:30894000-30899600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:30894000-30899600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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