Variant report

Variant	rs74091168
Chromosome Location	chr12:50357672-50357673
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	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
2	chr12:50356903..50358406-chr12:50425731..50427880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161798	Chromatin interaction
ENSG00000257588	Chromatin interaction
ENSG00000161800	Chromatin interaction

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

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

rs_ID	r²[population]
rs74091149	0.81[AFR][1000 genomes]
rs74091150	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899073	chr12:50335628-50360461	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
9	nsv899074	chr12:50344976-50360461	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1828759	chr12:50349765-50366300	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	28 gene(s)	inside rSNPs	diseases
14	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv523899	chr12:50354437-50366300	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv558838	chr12:50355329-50358054	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv558839	chr12:50355381-50358468	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50353600-50358400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:50355400-50357800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr12:50355400-50358200	Enhancers	Pancreas	Pancrea
4	chr12:50355400-50361200	Weak transcription	Lung	lung
5	chr12:50356000-50357800	Enhancers	Gastric	stomach
6	chr12:50356000-50361000	Weak transcription	Ovary	ovary
7	chr12:50356200-50357800	Enhancers	A549	lung
8	chr12:50356400-50357800	Enhancers	Liver	Liver
9	chr12:50356400-50358000	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr12:50356800-50359000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:50356800-50361000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:50357000-50357800	Enhancers	Right Atrium	heart
13	chr12:50357000-50360600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:50357000-50360600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:50357000-50360800	Weak transcription	Fetal Brain Female	brain
16	chr12:50357200-50357800	Enhancers	Esophagus	oesophagus
17	chr12:50357200-50358400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:50357200-50360800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:50357400-50357800	Enhancers	Brain Germinal Matrix	brain
20	chr12:50357400-50358000	Enhancers	HepG2	liver
21	chr12:50357400-50360400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:50357400-50360400	Enhancers	Hela-S3	cervix
23	chr12:50357400-50360600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:50357400-50360600	Weak transcription	Fetal Brain Male	brain
25	chr12:50357400-50360600	Weak transcription	Spleen	Spleen
26	chr12:50357400-50360800	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:50357400-50361000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:50357400-50361000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:50357400-50361000	Weak transcription	Right Ventricle	heart
30	chr12:50357400-50361000	Weak transcription	HMEC	breast
31	chr12:50357400-50361000	Weak transcription	HSMMtube	muscle
32	chr12:50357400-50361000	Weak transcription	HUVEC	blood vessel
33	chr12:50357600-50358200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:50357600-50360000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:50357600-50361000	Weak transcription	Left Ventricle	heart

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