Variant report

Variant	rs11112280
Chromosome Location	chr12:105384004-105384005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105376961..105378683-chr12:105383835..105385377,2	K562	blood:
2	chr12:105379993..105381811-chr12:105382055..105386132,5	K562	blood:
3	chr12:105378619..105382506-chr12:105382781..105387261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10507189	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs10861279	0.91[CEU][hapmap]
rs10861283	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10861284	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10861285	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10861289	0.91[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10861290	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10861298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11112211	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs11112213	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs11112214	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112216	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112219	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112222	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112226	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112236	0.81[AMR][1000 genomes]
rs11112239	0.82[ASN][1000 genomes]
rs11112240	0.82[ASN][1000 genomes]
rs11112244	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112247	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112255	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112262	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112267	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11112273	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112274	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11112275	0.93[EUR][1000 genomes]
rs11112278	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112281	1.00[CEU][hapmap];1.00[CHB][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]
rs11112282	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112288	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112289	1.00[CEU][hapmap];1.00[CHB][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]
rs11112290	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112298	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112301	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112304	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112305	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112326	0.87[AMR][1000 genomes]
rs11112344	1.00[JPT][hapmap]
rs11519610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519721	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368856	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12371663	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12372030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372069	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12372636	0.84[AMR][1000 genomes]
rs16891	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2047128	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs4331189	1.00[CEU][hapmap]
rs4405400	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56741182	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7303811	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9943769	0.95[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105380800-105386000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:105380800-105386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105380800-105386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:105380800-105386400	Weak transcription	Esophagus	oesophagus
5	chr12:105381000-105386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:105381000-105386800	Weak transcription	Psoas Muscle	Psoas
7	chr12:105381000-105388600	Weak transcription	Right Ventricle	heart
8	chr12:105381200-105384800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:105381400-105385000	Weak transcription	Fetal Heart	heart
10	chr12:105381400-105385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:105381400-105385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:105381400-105386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:105381600-105384200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:105381600-105384200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:105381600-105384600	Weak transcription	Fetal Stomach	stomach
16	chr12:105381600-105384800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:105381600-105384800	Weak transcription	Brain Anterior Caudate	brain
18	chr12:105381600-105385000	Weak transcription	Placenta	Placenta
19	chr12:105381600-105385400	Weak transcription	NHDF-Ad	bronchial
20	chr12:105381600-105385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:105381600-105385800	Weak transcription	NHLF	lung
22	chr12:105381600-105386000	Weak transcription	Colonic Mucosa	Colon
23	chr12:105381600-105386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:105381600-105386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:105381600-105387000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:105381600-105388600	Weak transcription	Spleen	Spleen
27	chr12:105381600-105392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:105381600-105392400	Weak transcription	Stomach Mucosa	stomach
29	chr12:105381800-105384400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:105381800-105384600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:105381800-105384600	Weak transcription	Pancreas	Pancrea
32	chr12:105381800-105384800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:105381800-105384800	Weak transcription	Brain Substantia Nigra	brain
34	chr12:105381800-105384800	Weak transcription	Fetal Intestine Small	intestine
35	chr12:105381800-105385200	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:105381800-105385600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:105381800-105385800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:105381800-105385800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:105381800-105385800	Weak transcription	NH-A	brain
40	chr12:105381800-105386000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:105381800-105386200	Weak transcription	Thymus	Thymus
42	chr12:105381800-105386800	Weak transcription	Fetal Brain Male	brain
43	chr12:105381800-105388200	Weak transcription	HSMMtube	muscle
44	chr12:105381800-105388400	Weak transcription	Aorta	Aorta
45	chr12:105381800-105388400	Weak transcription	Brain Germinal Matrix	brain
46	chr12:105381800-105389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:105381800-105392400	Weak transcription	Right Atrium	heart
48	chr12:105381800-105392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:105381800-105392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:105381800-105393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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