Variant report

Variant	rs60288211
Chromosome Location	chr12:50306280-50306281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50305622..50307544-chr12:50317876..50320067,2	MCF-7	breast:
2	chr12:50295593..50300153-chr12:50302401..50306371,6	MCF-7	breast:
3	chr12:50306187..50308222-chr12:50311319..50313465,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135472	Chromatin interaction
ENSG00000257771	Chromatin interaction

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]
rs297934	1.00[EUR][1000 genomes]
rs61606159	1.00[AMR][1000 genomes];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	nsv558836	chr12:50290023-50316439	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50298200-50307800	Weak transcription	Right Atrium	heart
2	chr12:50298400-50308000	Weak transcription	Pancreas	Pancrea
3	chr12:50303200-50306400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:50303400-50311800	Weak transcription	Gastric	stomach
5	chr12:50303800-50307600	Weak transcription	Fetal Heart	heart
6	chr12:50304000-50307400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:50304000-50307400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:50304000-50307400	Weak transcription	Brain Germinal Matrix	brain
9	chr12:50304200-50308000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:50304200-50308000	Weak transcription	Esophagus	oesophagus
11	chr12:50304200-50319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:50304400-50307600	Weak transcription	K562	blood
13	chr12:50304400-50308000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:50304600-50307800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:50304600-50314600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:50304800-50306400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:50304800-50307600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:50305600-50306600	Enhancers	Adipose Nuclei	Adipose
19	chr12:50305800-50308600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:50306000-50306800	Enhancers	Fetal Muscle Leg	muscle
21	chr12:50306000-50307400	Weak transcription	Hela-S3	cervix
22	chr12:50306000-50308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:50306200-50306400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:50306200-50306600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr12:50306200-50306800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr12:50306200-50308000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:50306200-50308200	Enhancers	Placenta	Placenta

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