Variant report

Variant	rs4306136
Chromosome Location	chr1:221608720-221608721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221582501..221585038-chr1:221608026..221610833,2	K562	blood:
2	chr1:221047473..221048142-chr1:221608493..221609352,2	MCF-7	breast:
3	chr1:221046988..221047714-chr1:221608455..221609151,2	K562	blood:
4	chr1:221436849..221438220-chr1:221608328..221609406,8	MCF-7	breast:
5	chr1:221047270..221048192-chr1:221608471..221609353,4	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10863613	0.92[ASN][1000 genomes]
rs10863616	0.91[ASN][1000 genomes]
rs10863618	0.83[ASN][1000 genomes]
rs10863620	0.80[ASN][1000 genomes]
rs10863621	0.80[ASN][1000 genomes]
rs11118716	0.95[ASN][1000 genomes]
rs11118717	0.90[ASN][1000 genomes]
rs11118718	0.91[ASN][1000 genomes]
rs11118721	0.83[ASN][1000 genomes]
rs11118729	0.80[ASN][1000 genomes]
rs11118730	0.80[ASN][1000 genomes]
rs11578091	0.83[ASN][1000 genomes]
rs12081626	0.92[ASN][1000 genomes]
rs1551670	0.91[ASN][1000 genomes]
rs1599087	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4336855	0.91[ASN][1000 genomes]
rs61817015	0.91[ASN][1000 genomes]
rs6674029	0.92[ASN][1000 genomes]
rs6696579	0.80[ASN][1000 genomes]
rs6696765	0.80[ASN][1000 genomes]
rs7539333	0.91[ASN][1000 genomes]
rs9725646	0.88[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:221603800-221609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221604800-221612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:221605000-221609000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:221605000-221609000	Weak transcription	Osteobl	bone
5	chr1:221605000-221611400	Weak transcription	A549	lung
6	chr1:221605200-221611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:221605400-221611400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:221605400-221611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:221605600-221609000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:221605800-221612400	Weak transcription	Fetal Heart	heart
11	chr1:221605800-221613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:221606200-221613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:221608200-221615000	Enhancers	Hela-S3	cervix
14	chr1:221608400-221608800	Enhancers	GM12878-XiMat	blood
15	chr1:221608400-221609200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:221608400-221609400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:221608400-221609400	Enhancers	Colon Smooth Muscle	Colon
18	chr1:221608400-221609600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:221608600-221608800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:221608600-221609200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:221608600-221609200	Enhancers	HUVEC	blood vessel
22	chr1:221608600-221609200	Enhancers	NHDF-Ad	bronchial
23	chr1:221608600-221609200	Enhancers	NHLF	lung
24	chr1:221608600-221609400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:221608600-221612800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:221608600-221613800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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