Variant report

Variant	rs9630266
Chromosome Location	chr12:12282409-12282410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12281936..12284357-chr12:12286160..12289411,3	K562	blood:
2	chr12:12276861..12279335-chr12:12282362..12284399,2	MCF-7	breast:
3	chr12:12281936..12283694-chr12:12286160..12287975,2	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10082834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466847	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466848	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772531	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10845497	1.00[ASN][1000 genomes]
rs10845499	1.00[CEU][hapmap]
rs10845500	1.00[ASN][1000 genomes]
rs11054695	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054696	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054702	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054705	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054706	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054707	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054709	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054710	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054713	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054720	1.00[CEU][hapmap]
rs11054729	1.00[CEU][hapmap]
rs11054732	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11054746	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11054767	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1123213	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829211	1.00[ASN][1000 genomes]
rs11831610	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12296239	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305378	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307111	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12309246	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309338	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12309495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310020	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311202	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311922	1.00[ASN][1000 genomes]
rs12316043	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422890	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424332	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424361	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425185	1.00[ASN][1000 genomes]
rs12425699	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377971	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907789	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448423	1.00[ASN][1000 genomes]
rs56259928	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58682800	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59386755	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308022	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7311064	1.00[ASN][1000 genomes]
rs7957531	1.00[CEU][hapmap]
rs7965177	1.00[YRI][hapmap]
rs7973718	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7978064	0.82[CEU][hapmap]
rs7979919	1.00[ASN][1000 genomes]
rs9630249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630250	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12261600-12301400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:12261800-12288000	Weak transcription	Gastric	stomach
3	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:12262800-12284800	Weak transcription	Aorta	Aorta
5	chr12:12263800-12314600	Weak transcription	Esophagus	oesophagus
6	chr12:12264000-12301400	Weak transcription	Right Ventricle	heart
7	chr12:12264200-12284600	Weak transcription	Pancreas	Pancrea
8	chr12:12264400-12284800	Weak transcription	Lung	lung
9	chr12:12264400-12311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:12265600-12303400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:12267800-12301600	Weak transcription	NHLF	lung
12	chr12:12268800-12301600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:12270600-12284800	Weak transcription	Spleen	Spleen
15	chr12:12271000-12284400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:12271000-12301600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:12271400-12286600	Strong transcription	Liver	Liver
18	chr12:12271400-12306600	Weak transcription	Small Intestine	intestine
19	chr12:12271600-12288400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:12271600-12294200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:12271800-12285000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:12271800-12285600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:12271800-12286400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:12272000-12285000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:12272000-12286000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
27	chr12:12272400-12325200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:12272600-12285000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:12272600-12288400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:12272600-12305000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:12273000-12283600	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:12273400-12283400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:12273400-12286600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:12273600-12301600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:12274200-12287800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:12274400-12284600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:12274600-12313600	Weak transcription	Colonic Mucosa	Colon
38	chr12:12275000-12303400	Weak transcription	GM12878-XiMat	blood
39	chr12:12275400-12283800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:12276000-12283200	Strong transcription	HSMM	muscle
41	chr12:12276000-12285000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr12:12276000-12285000	Strong transcription	Fetal Lung	lung
43	chr12:12276800-12290600	Weak transcription	HSMMtube	muscle
44	chr12:12277000-12284600	Weak transcription	Fetal Heart	heart
45	chr12:12277400-12306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:12277600-12311600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:12277800-12282600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:12277800-12282800	Weak transcription	Fetal Kidney	kidney
49	chr12:12278000-12287800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:12278200-12299200	Weak transcription	Brain Hippocampus Middle	brain

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