Variant report

Variant	rs4018511
Chromosome Location	chr12:49355036-49355037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49349743..49353633-chr12:49353636..49360057,10	MCF-7	breast:
2	chr12:49351134..49353553-chr12:49353996..49358640,5	MCF-7	breast:
3	chr12:49349495..49352296-chr12:49353463..49356229,4	K562	blood:
4	chr12:49354919..49357035-chr12:49364006..49366488,2	MCF-7	breast:
5	chr12:49354894..49356754-chr12:49364415..49366841,3	K562	blood:
6	chr12:49354894..49356754-chr12:49364415..49366841,2	K562	blood:

Variant related genes	Relation type
ENSG00000169884	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000134287	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10783298	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49351800-49358600	Weak transcription	Lung	lung
2	chr12:49351800-49365000	Weak transcription	Right Atrium	heart
3	chr12:49352000-49355200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:49352000-49355200	Weak transcription	NHDF-Ad	bronchial
5	chr12:49352200-49355200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49352200-49355200	Weak transcription	NHEK	skin
7	chr12:49352200-49358400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:49354600-49356000	Enhancers	HSMM	muscle
9	chr12:49354800-49355200	Flanking Active TSS	HSMMtube	muscle
10	chr12:49354800-49355600	Enhancers	Hela-S3	cervix
11	chr12:49354800-49355800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:49354800-49355800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:49354800-49355800	Enhancers	HMEC	breast
14	chr12:49354800-49356400	Enhancers	HUVEC	blood vessel
15	chr12:49355000-49355200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:49355000-49355200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:49355000-49355200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
18	chr12:49355000-49355400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:49355000-49355400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:49355000-49355400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:49355000-49355400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:49355000-49355400	Enhancers	A549	lung
23	chr12:49355000-49355600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:49355000-49355800	Enhancers	Osteobl	bone
25	chr12:49355000-49356000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:49355000-49356000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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