Variant report

Variant	rs4306351
Chromosome Location	chr12:105447029-105447030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105073708..105074536-chr12:105446439..105447355,3	MCF-7	breast:
2	chr12:104595044..104595663-chr12:105446789..105447301,2	MCF-7	breast:
3	chr12:104741125..104741819-chr12:105446589..105447468,2	MCF-7	breast:
4	chr12:105312658..105314967-chr12:105446704..105448489,2	K562	blood:
5	chr12:104594663..104595632-chr12:105446526..105447442,3	K562	blood:
6	chr12:104775747..104776264-chr12:105446543..105447108,2	K562	blood:
7	chr12:105446119..105448037-chr12:105501270..105503403,2	MCF-7	breast:
8	chr12:105446388..105448614-chr12:105457572..105460217,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11836033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315667	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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:105413200-105457800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:105414800-105447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:105414800-105454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:105420400-105448600	Weak transcription	Ovary	ovary
8	chr12:105423200-105459400	Weak transcription	Lung	lung
9	chr12:105431400-105461600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105431800-105454800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:105432200-105454600	Weak transcription	NHEK	skin
12	chr12:105434000-105453000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:105435200-105453600	Weak transcription	Fetal Stomach	stomach
14	chr12:105435600-105467400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:105437200-105448600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:105440200-105449800	Strong transcription	HSMMtube	muscle
17	chr12:105440400-105448600	Strong transcription	HSMM	muscle
18	chr12:105441200-105477000	Weak transcription	Gastric	stomach
19	chr12:105441400-105453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:105441400-105454800	Weak transcription	Pancreas	Pancrea
21	chr12:105441600-105448800	Weak transcription	A549	lung
22	chr12:105441600-105458200	Weak transcription	Right Ventricle	heart
23	chr12:105442400-105448400	Weak transcription	Aorta	Aorta
24	chr12:105442400-105448800	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:105442400-105451000	Weak transcription	Fetal Brain Male	brain
26	chr12:105442400-105469800	Weak transcription	Fetal Lung	lung
27	chr12:105443400-105465000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:105443600-105448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:105443800-105448200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:105443800-105453000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:105444000-105453600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:105444200-105449200	Weak transcription	Fetal Brain Female	brain
33	chr12:105445200-105447200	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:105445200-105453200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:105445400-105447200	Enhancers	GM12878-XiMat	blood
36	chr12:105445400-105448400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:105445400-105448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:105445400-105453200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:105445800-105448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:105445800-105448400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:105445800-105472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:105446000-105448200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:105446200-105448800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:105446400-105448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:105446600-105447200	Enhancers	Brain Hippocampus Middle	brain
46	chr12:105446600-105447400	Enhancers	Liver	Liver
47	chr12:105446600-105448400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:105446800-105447200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:105446800-105447200	Enhancers	Brain Angular Gyrus	brain
50	chr12:105446800-105447200	Enhancers	Colon Smooth Muscle	Colon

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