Variant report

Variant	rs7968828
Chromosome Location	chr12:30853995-30853996
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30848462..30850744-chr12:30852619..30855375,2	K562	blood:
2	chr12:30853082..30854852-chr12:30907292..30909990,2	K562	blood:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12370947	1.00[YRI][hapmap]
rs16906667	1.00[AMR][1000 genomes]
rs16906676	1.00[AMR][1000 genomes]
rs16906678	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16906714	1.00[AMR][1000 genomes]
rs3850962	1.00[AMR][1000 genomes]
rs3850963	1.00[AMR][1000 genomes]
rs59463115	1.00[AMR][1000 genomes]
rs59551332	1.00[AMR][1000 genomes]
rs60389639	1.00[AMR][1000 genomes]
rs60547392	1.00[AMR][1000 genomes]
rs61297171	1.00[AMR][1000 genomes]
rs7137533	1.00[AMR][1000 genomes]
rs7962702	1.00[AMR][1000 genomes]
rs7962737	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962761	1.00[AMR][1000 genomes]
rs7971480	1.00[AMR][1000 genomes]
rs7973128	0.85[AFR][1000 genomes]
rs7974821	1.00[AMR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849400-30854200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:30849400-30860600	Weak transcription	NH-A	brain
4	chr12:30849400-30861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:30849400-30862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
7	chr12:30849600-30861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:30849600-30861800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:30849600-30861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:30849600-30861800	Weak transcription	NHEK	skin
11	chr12:30849600-30862000	Weak transcription	Brain Germinal Matrix	brain
12	chr12:30849600-30862000	Weak transcription	HMEC	breast
13	chr12:30849600-30862200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:30849600-30862200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:30849600-30862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:30849600-30862600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
18	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
19	chr12:30849800-30861800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:30849800-30861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:30849800-30862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:30849800-30862000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:30849800-30862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:30849800-30862200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:30849800-30862400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:30849800-30862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:30849800-30862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:30849800-30862400	Weak transcription	Lung	lung
29	chr12:30849800-30862600	Weak transcription	Ovary	ovary
30	chr12:30849800-30862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:30849800-30862800	Weak transcription	Brain Substantia Nigra	brain
32	chr12:30849800-30862800	Weak transcription	Left Ventricle	heart
33	chr12:30849800-30862800	Weak transcription	Pancreas	Pancrea
34	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:30850000-30860800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:30850200-30861800	Weak transcription	Dnd41	blood
37	chr12:30852600-30854200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:30852600-30854400	Enhancers	Osteobl	bone
39	chr12:30853000-30854000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:30853000-30854400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:30853400-30854200	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:30853400-30854200	Enhancers	HSMM	muscle
43	chr12:30853400-30854400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:30853400-30862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:30853600-30854000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:30853600-30854200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:30853600-30854200	Enhancers	Brain Hippocampus Middle	brain
48	chr12:30853600-30854600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:30853600-30856200	Enhancers	Fetal Muscle Leg	muscle
50	chr12:30853600-30862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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