Variant report

Variant	rs2336449
Chromosome Location	chr12:50265399-50265400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50263624..50265714-chr12:50280541..50282081,2	MCF-7	breast:
2	chr12:50262446..50266372-chr12:50284381..50286469,3	MCF-7	breast:
3	chr12:50263777..50265615-chr12:50332249..50333962,2	K562	blood:
4	chr12:50236583..50238267-chr12:50264548..50267358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35400945	1.00[AMR][1000 genomes]
rs874965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50260600-50267600	Enhancers	HSMM	muscle
2	chr12:50260600-50268200	Enhancers	HSMMtube	muscle
3	chr12:50260600-50268600	Enhancers	Fetal Muscle Leg	muscle
4	chr12:50261000-50265400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:50261000-50268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:50261200-50267000	Enhancers	Right Atrium	heart
7	chr12:50261600-50265800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:50262000-50270800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50262400-50265800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:50263200-50266000	Weak transcription	Fetal Brain Female	brain
11	chr12:50263400-50267000	Weak transcription	Fetal Kidney	kidney
12	chr12:50263600-50265800	Strong transcription	Brain Anterior Caudate	brain
13	chr12:50263600-50265800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:50263600-50265800	Weak transcription	NH-A	brain
15	chr12:50263600-50270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:50263800-50266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:50263800-50266200	Weak transcription	Fetal Thymus	thymus
18	chr12:50263800-50266400	Enhancers	Brain Germinal Matrix	brain
19	chr12:50263800-50266400	Weak transcription	NHDF-Ad	bronchial
20	chr12:50263800-50266600	Weak transcription	Lung	lung
21	chr12:50263800-50266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:50263800-50266600	Weak transcription	Osteobl	bone
23	chr12:50263800-50268000	Weak transcription	Gastric	stomach
24	chr12:50263800-50268400	Weak transcription	Esophagus	oesophagus
25	chr12:50263800-50271800	Weak transcription	Pancreas	Pancrea
26	chr12:50264000-50266000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:50264000-50266000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:50264000-50266000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:50264000-50267200	Weak transcription	Fetal Intestine Small	intestine
30	chr12:50264000-50268800	Enhancers	Hela-S3	cervix
31	chr12:50264200-50265800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:50264200-50265800	Weak transcription	Placenta	Placenta
33	chr12:50264200-50266000	Weak transcription	K562	blood
34	chr12:50264200-50266200	Weak transcription	Fetal Lung	lung
35	chr12:50264400-50266000	Weak transcription	Fetal Stomach	stomach
36	chr12:50264600-50266000	Weak transcription	Left Ventricle	heart
37	chr12:50264600-50271600	Weak transcription	Fetal Brain Male	brain
38	chr12:50264800-50269200	Enhancers	Brain Substantia Nigra	brain
39	chr12:50265000-50266000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:50265000-50266000	Weak transcription	Fetal Heart	heart
41	chr12:50265000-50266800	Enhancers	Brain Angular Gyrus	brain
42	chr12:50265200-50265600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:50265200-50266600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:50265200-50266600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:50265200-50267400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:50265200-50268000	Weak transcription	Right Ventricle	heart
47	chr12:50265200-50268200	Enhancers	Fetal Muscle Trunk	muscle
48	chr12:50265200-50268400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:50265200-50269200	Enhancers	Brain Hippocampus Middle	brain

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