Variant report

Variant	rs7295650
Chromosome Location	chr12:104388412-104388413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104375830..104377503-chr12:104387925..104389874,3	K562	blood:
2	chr12:104384261..104388673-chr12:104456948..104460032,3	K562	blood:
3	chr12:104388319..104390087-chr12:104391982..104393996,2	K562	blood:
4	chr12:104388056..104390327-chr12:104394417..104397045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507172	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10507173	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861148	0.81[ASN][1000 genomes]
rs10861153	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111858	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11111862	0.83[ASN][1000 genomes]
rs11111863	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11111865	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111866	1.00[ASN][1000 genomes]
rs12579643	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2164747	0.81[ASN][1000 genomes]
rs2293620	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293624	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3751210	0.95[ASN][1000 genomes]
rs3817602	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829301	0.87[ASN][1000 genomes]
rs4135052	0.83[ASN][1000 genomes]
rs4135054	0.83[ASN][1000 genomes]
rs4135068	0.83[ASN][1000 genomes]
rs4135079	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4135102	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135103	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135109	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135113	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135115	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60033863	0.93[ASN][1000 genomes]
rs61646543	0.90[ASN][1000 genomes]
rs7137924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305770	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388292	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73390443	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
2	chr12:104377800-104390200	Weak transcription	Fetal Heart	heart
3	chr12:104377800-104391000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104380800-104391400	Weak transcription	Ovary	ovary
6	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
7	chr12:104380800-104400200	Weak transcription	NHLF	lung
8	chr12:104381000-104389000	Weak transcription	Thymus	Thymus
9	chr12:104381000-104390600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:104381000-104390800	Weak transcription	K562	blood
11	chr12:104381000-104391200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:104381000-104391200	Weak transcription	Right Ventricle	heart
13	chr12:104381000-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:104381600-104392800	Weak transcription	Left Ventricle	heart
15	chr12:104382600-104389000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:104383600-104389600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:104384800-104390800	Weak transcription	Fetal Lung	lung
18	chr12:104385000-104390800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:104385000-104400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:104385400-104400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:104385600-104390800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:104385800-104400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:104386000-104388800	Weak transcription	Osteobl	bone
25	chr12:104387000-104400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:104387200-104388800	Enhancers	HSMM	muscle
27	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:104387400-104390400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:104387400-104391400	Weak transcription	Fetal Stomach	stomach
30	chr12:104387800-104388600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:104387800-104388600	Enhancers	HSMMtube	muscle
32	chr12:104388200-104388600	Enhancers	Psoas Muscle	Psoas
33	chr12:104388200-104389200	Enhancers	Fetal Muscle Leg	muscle
34	chr12:104388400-104388800	Enhancers	Spleen	Spleen
35	chr12:104388400-104390600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:104388400-104391200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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