Variant report

Variant	rs297934
Chromosome Location	chr12:50289635-50289636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50280227..50282176-chr12:50287942..50290577,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs296740	1.00[EUR][1000 genomes]
rs60288211	1.00[EUR][1000 genomes]
rs61606159	1.00[EUR][1000 genomes]
rs73293430	1.00[EUR][1000 genomes]
rs74091103	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv525920	chr12:50285061-50304949	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
2	chr12:50275000-50294800	Weak transcription	Fetal Brain Male	brain
3	chr12:50283600-50290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:50285400-50289800	Weak transcription	Fetal Brain Female	brain
5	chr12:50287000-50292000	Weak transcription	K562	blood
6	chr12:50287000-50295000	Strong transcription	Brain Germinal Matrix	brain
7	chr12:50287600-50295800	Strong transcription	Fetal Stomach	stomach
8	chr12:50287800-50290000	Enhancers	Stomach Mucosa	stomach
9	chr12:50287800-50290000	Enhancers	Spleen	Spleen
10	chr12:50287800-50291800	Enhancers	Esophagus	oesophagus
11	chr12:50288000-50290200	Genic enhancers	Brain Hippocampus Middle	brain
12	chr12:50288000-50290600	Genic enhancers	Brain Cingulate Gyrus	brain
13	chr12:50288000-50290800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:50288000-50291200	Genic enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:50288400-50289800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:50288800-50289800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:50288800-50291800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr12:50288800-50292000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:50289000-50289800	Enhancers	Fetal Intestine Small	intestine
20	chr12:50289000-50290000	Enhancers	Fetal Intestine Large	intestine
21	chr12:50289000-50290600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:50289200-50289800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:50289200-50290000	Enhancers	Hela-S3	cervix
24	chr12:50289200-50291000	Enhancers	Fetal Muscle Leg	muscle
25	chr12:50289200-50292400	Strong transcription	Brain Anterior Caudate	brain
26	chr12:50289400-50289800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr12:50289400-50289800	Enhancers	Placenta	Placenta
28	chr12:50289400-50290000	Enhancers	Ovary	ovary
29	chr12:50289600-50289800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:50289600-50290600	Weak transcription	Brain Substantia Nigra	brain
31	chr12:50289600-50291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:50289600-50292400	Strong transcription	Brain Angular Gyrus	brain

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