Variant report

Variant	rs603846
Chromosome Location	chr12:50276031-50276032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50273812..50276593-chr12:50279241..50281059,2	K562	blood:
2	chr12:50275093..50276632-chr12:50278592..50280741,2	K562	blood:
3	chr12:50261251..50262807-chr12:50275153..50277323,2	MCF-7	breast:
4	chr12:50275514..50280639-chr12:50281373..50284133,6	MCF-7	breast:
5	chr12:50269088..50271373-chr12:50274652..50276581,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs417644	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs422022	0.96[ASN][1000 genomes]
rs836964	1.00[JPT][hapmap];0.81[ASN][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	esv3372497	chr12:50269585-50276583	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
2	chr12:50268200-50276400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:50270000-50276400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:50273000-50276400	Strong transcription	Fetal Brain Female	brain
5	chr12:50273600-50277800	Strong transcription	Brain Angular Gyrus	brain
6	chr12:50274600-50278800	Weak transcription	Fetal Kidney	kidney
7	chr12:50274800-50276400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:50274800-50277600	Genic enhancers	Brain Inferior Temporal Lobe	brain
9	chr12:50275000-50294800	Weak transcription	Fetal Brain Male	brain
10	chr12:50275200-50276600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr12:50275200-50279800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:50275200-50282000	Weak transcription	Gastric	stomach
13	chr12:50275400-50276200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:50275400-50276800	Strong transcription	Fetal Stomach	stomach
15	chr12:50275400-50277200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:50275400-50277600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:50275400-50280200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:50275600-50276400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr12:50275600-50277000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:50275800-50276200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:50275800-50277000	Genic enhancers	Brain Anterior Caudate	brain
22	chr12:50275800-50277200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:50275800-50277400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr12:50275800-50277400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:50275800-50277600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:50276000-50276400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:50276000-50276800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:50276000-50277200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:50276000-50277400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:50276000-50277600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:50276000-50277600	Genic enhancers	Brain Cingulate Gyrus	brain
32	chr12:50276000-50277800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:50276000-50277800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:50276000-50277800	Enhancers	Brain Substantia Nigra	brain
35	chr12:50276000-50278200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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