Variant report

Variant	rs7305813
Chromosome Location	chr12:29935607-29935608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1038065	0.94[ASN][1000 genomes]
rs16934863	0.89[ASN][1000 genomes]
rs16934866	0.94[ASN][1000 genomes]
rs2350664	0.90[ASN][1000 genomes]
rs60625330	0.94[ASN][1000 genomes]
rs60727298	0.94[ASN][1000 genomes]
rs60788764	0.94[ASN][1000 genomes]
rs61409863	0.94[ASN][1000 genomes]
rs61680788	0.94[ASN][1000 genomes]
rs67625669	0.94[ASN][1000 genomes]
rs68059787	0.94[ASN][1000 genomes]
rs73077481	0.94[ASN][1000 genomes]
rs73077491	0.98[ASN][1000 genomes]
rs7312961	0.88[ASN][1000 genomes]
rs7312973	0.90[ASN][1000 genomes]
rs7977334	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826294	chr12:29934604-29940372	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29933000-29937800	Active TSS	Aorta	Aorta
2	chr12:29933800-29937800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:29934000-29936400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:29934000-29937800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:29934000-29937800	Active TSS	Fetal Kidney	kidney
6	chr12:29934000-29937800	Active TSS	NHLF	lung
7	chr12:29934000-29938000	Active TSS	Right Ventricle	heart
8	chr12:29934200-29935800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:29934200-29937400	Active TSS	Lung	lung
10	chr12:29934200-29937600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr12:29934200-29937600	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:29934200-29937800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:29934400-29936400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:29934400-29937600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:29934400-29937600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:29934400-29937600	Bivalent/Poised TSS	Thymus	Thymus
17	chr12:29934400-29937800	Active TSS	Brain Anterior Caudate	brain
18	chr12:29934400-29937800	Active TSS	Brain Hippocampus Middle	brain
19	chr12:29934400-29937800	Active TSS	Fetal Brain Female	brain
20	chr12:29934600-29936600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:29934600-29937400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr12:29934600-29937800	Active TSS	Right Atrium	heart
23	chr12:29934600-29937800	Active TSS	Stomach Smooth Muscle	stomach
24	chr12:29934800-29936600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:29934800-29937400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:29934800-29937400	Bivalent/Poised TSS	NHEK	skin
27	chr12:29934800-29937600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:29934800-29937600	Active TSS	Brain Cingulate Gyrus	brain
29	chr12:29934800-29937600	Active TSS	Brain Substantia Nigra	brain
30	chr12:29934800-29937800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:29934800-29937800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:29934800-29937800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr12:29934800-29937800	Active TSS	Left Ventricle	heart
34	chr12:29934800-29937800	Active TSS	Ovary	ovary
35	chr12:29934800-29937800	Active TSS	Psoas Muscle	Psoas
36	chr12:29934800-29937800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:29934800-29937800	Active TSS	HSMM	muscle
38	chr12:29935000-29936400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr12:29935000-29936400	Active TSS	GM12878-XiMat	blood
40	chr12:29935000-29937200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr12:29935000-29937400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:29935000-29937400	Active TSS	HMEC	breast
43	chr12:29935000-29937800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:29935000-29937800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:29935000-29937800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:29935000-29937800	Active TSS	Brain Angular Gyrus	brain
47	chr12:29935000-29937800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr12:29935000-29937800	Active TSS	Hela-S3	cervix
49	chr12:29935000-29937800	Active TSS	HSMMtube	muscle
50	chr12:29935200-29935800	Bivalent Enhancer	Fetal Lung	lung

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