Variant report

Variant	rs11065503
Chromosome Location	chr12:121677710-121677711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121670055..121672601-chr12:121677371..121679007,2	K562	blood:
2	chr12:121666865..121669227-chr12:121676180..121679076,2	MCF-7	breast:
3	chr12:121676166..121678548-chr12:121679208..121682170,2	K562	blood:
4	chr12:121668796..121670934-chr12:121675457..121678613,3	MCF-7	breast:
5	chr12:121676787..121679151-chr12:121688485..121690169,2	MCF-7	breast:
6	chr12:121673593..121675098-chr12:121676910..121678687,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11065506	1.00[ASW][hapmap]
rs11065507	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12305892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308108	0.89[AFR][1000 genomes]
rs55768259	0.85[AFR][1000 genomes]
rs55835841	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56204342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59185521	1.00[AMR][1000 genomes]
rs60321717	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61670703	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7961966	1.00[AFR][1000 genomes]
rs7961979	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv455731	chr12:121668254-121687174	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv560456	chr12:121668254-121687174	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
3	chr12:121653400-121678600	Weak transcription	Right Atrium	heart
4	chr12:121655200-121678000	Weak transcription	Fetal Kidney	kidney
5	chr12:121662000-121679000	Weak transcription	K562	blood
6	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
7	chr12:121665600-121681400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:121665800-121678600	Weak transcription	NH-A	brain
9	chr12:121666600-121679200	Strong transcription	Lung	lung
10	chr12:121667000-121678000	Weak transcription	Left Ventricle	heart
11	chr12:121667800-121685200	Weak transcription	Hela-S3	cervix
12	chr12:121668600-121678400	Weak transcription	A549	lung
13	chr12:121668600-121678400	Weak transcription	HepG2	liver
14	chr12:121669800-121677800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:121669800-121678000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:121670200-121689400	Strong transcription	Fetal Brain Female	brain
17	chr12:121670600-121695000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:121671000-121678000	Weak transcription	NHDF-Ad	bronchial
19	chr12:121671200-121686200	Weak transcription	Small Intestine	intestine
20	chr12:121671800-121681200	Weak transcription	Brain Angular Gyrus	brain
21	chr12:121672200-121678800	Weak transcription	HSMM	muscle
22	chr12:121672800-121679200	Weak transcription	Ovary	ovary
23	chr12:121673000-121677800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:121673200-121679800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121673600-121677800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:121673600-121678000	Weak transcription	Aorta	Aorta
27	chr12:121673600-121678400	Genic enhancers	Fetal Intestine Large	intestine
28	chr12:121673600-121679600	Strong transcription	Dnd41	blood
29	chr12:121673600-121681200	Weak transcription	HMEC	breast
30	chr12:121673800-121678200	Genic enhancers	Fetal Intestine Small	intestine
31	chr12:121674400-121678200	Weak transcription	NHLF	lung
32	chr12:121674400-121687800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:121674600-121678200	Genic enhancers	Liver	Liver
34	chr12:121674600-121692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
36	chr12:121675200-121678400	Genic enhancers	Fetal Stomach	stomach
37	chr12:121675400-121678000	Enhancers	Colon Smooth Muscle	Colon
38	chr12:121675400-121678400	Strong transcription	Colonic Mucosa	Colon
39	chr12:121675400-121679600	Strong transcription	NHEK	skin
40	chr12:121675600-121679600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:121675800-121678400	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr12:121675800-121679400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:121676000-121677800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr12:121676000-121678200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:121676000-121679000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:121676200-121678000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr12:121676200-121678200	Enhancers	Brain Hippocampus Middle	brain
48	chr12:121676200-121678200	Genic enhancers	Thymus	Thymus
49	chr12:121676200-121678600	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:121676200-121679400	Weak transcription	Right Ventricle	heart

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