Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:209380711..209382110-chr1:209421741..209422984,5	MCF-7	breast:
2	chr1:209420639..209424280-chr1:209607063..209609877,4	MCF-7	breast:
3	chr1:209375950..209376832-chr1:209421724..209422654,5	MCF-7	breast:
4	chr1:209421771..209422737-chr1:209527455..209528257,2	K562	blood:
5	chr1:209421788..209422593-chr1:209527401..209528229,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10494919	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1507332	0.91[EUR][1000 genomes]
rs1507333	0.84[EUR][1000 genomes]
rs17260224	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs17260245	0.88[EUR][1000 genomes]
rs2055700	0.84[EUR][1000 genomes]
rs2800930	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4504891	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59658508	0.82[EUR][1000 genomes]
rs6661882	0.88[EUR][1000 genomes]
rs6681844	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687960	0.88[EUR][1000 genomes]
rs73085919	0.82[EUR][1000 genomes]
rs73085926	0.82[EUR][1000 genomes]
rs73085932	0.82[EUR][1000 genomes]
rs73085944	0.81[EUR][1000 genomes]
rs73085950	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906352	0.81[EUR][1000 genomes]
rs949488	0.84[EUR][1000 genomes]

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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2788153	SNORD116-29	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209421200-209423000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:209421200-209423200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:209421200-209423600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:209421200-209424000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:209421400-209422400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:209421400-209424200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:209421600-209423600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:209421600-209426600	Enhancers	Fetal Brain Male	brain
9	chr1:209421800-209423000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:209421800-209426200	Enhancers	Fetal Brain Female	brain
11	chr1:209422000-209422400	Weak transcription	Fetal Stomach	stomach
12	chr1:209422000-209423000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:209422000-209423400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:209422200-209422400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:209422200-209422800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:209422200-209422800	Enhancers	Fetal Kidney	kidney
17	chr1:209422200-209422800	Enhancers	HMEC	breast
18	chr1:209422200-209423000	Enhancers	Hela-S3	cervix
19	chr1:209422200-209423200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:209422200-209423400	Enhancers	HSMM	muscle

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