Variant report

Variant	rs7315396
Chromosome Location	chr12:104442093-104442094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104440677..104443075-chr12:104444552..104446147,2	K562	blood:
2	chr12:104442014..104443659-chr12:104530642..104533573,2	MCF-7	breast:
3	chr12:104441752..104444274-chr12:104682358..104684016,2	K562	blood:
4	chr12:104440302..104444353-chr12:104456677..104458918,3	K562	blood:
5	chr12:104441740..104444353-chr12:104456837..104458918,2	K562	blood:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12318096	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs1437503	0.90[YRI][hapmap]
rs17035135	1.00[CEU][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55997300	0.83[AFR][1000 genomes]
rs58131303	1.00[EUR][1000 genomes]
rs58937971	0.89[EUR][1000 genomes]
rs6539118	1.00[EUR][1000 genomes]
rs6539119	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7132060	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294791	1.00[EUR][1000 genomes]
rs7303182	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306864	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7315363	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7960212	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104408800-104442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104439400-104442200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:104439400-104442600	Weak transcription	Right Atrium	heart
4	chr12:104439400-104443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:104439400-104443400	Weak transcription	Left Ventricle	heart
6	chr12:104439400-104443400	Weak transcription	Lung	lung
7	chr12:104439400-104443400	Weak transcription	Right Ventricle	heart
8	chr12:104439400-104443800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:104439600-104442200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:104439600-104442400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104439600-104442400	Weak transcription	Fetal Stomach	stomach
12	chr12:104439600-104442400	Weak transcription	HSMM	muscle
13	chr12:104439600-104442400	Weak transcription	HSMMtube	muscle
14	chr12:104439600-104443400	Weak transcription	Psoas Muscle	Psoas
15	chr12:104440000-104442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:104440000-104443400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:104440200-104443000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:104440200-104443200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:104440800-104442200	Weak transcription	A549	lung
20	chr12:104441400-104442200	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:104441600-104442800	Flanking Active TSS	Ovary	ovary
22	chr12:104441800-104442400	Enhancers	Fetal Lung	lung
23	chr12:104441800-104442400	Enhancers	HMEC	breast
24	chr12:104441800-104442800	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr12:104441800-104442800	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr12:104441800-104444600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr12:104442000-104442200	Flanking Active TSS	NHDF-Ad	bronchial
28	chr12:104442000-104442400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:104442000-104442400	Active TSS	Stomach Smooth Muscle	stomach
30	chr12:104442000-104442400	Active TSS	Osteobl	bone
31	chr12:104442000-104442600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:104442000-104442800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr12:104442000-104442800	Flanking Active TSS	NHLF	lung
34	chr12:104442000-104443000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:104442000-104443000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:104442000-104443000	Enhancers	Adipose Nuclei	Adipose
37	chr12:104442000-104443600	Active TSS	Fetal Muscle Trunk	muscle
38	chr12:104442000-104444400	Active TSS	Aorta	Aorta

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