Variant report

Variant	rs232883
Chromosome Location	chr1:59112121-59112122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59110150..59112392-chr1:59115500..59117344,2	K562	blood:
2	chr1:59037535..59044875-chr1:59111123..59123546,29	MCF-7	breast:
3	chr1:59010701..59012328-chr1:59112006..59114513,3	MCF-7	breast:
4	chr1:59098846..59101331-chr1:59111358..59112947,2	MCF-7	breast:
5	chr1:59110479..59112753-chr1:59115412..59117195,2	MCF-7	breast:
6	chr1:59036598..59046417-chr1:59110760..59123309,33	MCF-7	breast:
7	chr1:59107899..59110520-chr1:59111645..59113798,2	K562	blood:
8	chr1:59107092..59110520-chr1:59111645..59114079,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184292	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs232850	0.87[AMR][1000 genomes]
rs232868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2746078	1.00[AMR][1000 genomes]
rs2746079	1.00[AMR][1000 genomes]
rs2746080	1.00[AMR][1000 genomes]
rs2811859	1.00[AMR][1000 genomes]
rs2811864	1.00[AMR][1000 genomes]
rs2811871	1.00[AMR][1000 genomes]
rs2811889	1.00[AMR][1000 genomes]
rs2811892	1.00[AMR][1000 genomes]
rs471446	0.89[AMR][1000 genomes]
rs472129	0.89[AMR][1000 genomes]
rs489260	0.89[AMR][1000 genomes]
rs500863	0.89[AMR][1000 genomes]
rs504996	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519331	0.89[AMR][1000 genomes]
rs522103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528387	0.89[AMR][1000 genomes]
rs528642	0.89[AMR][1000 genomes]
rs529289	0.89[AMR][1000 genomes]
rs553540	0.89[AMR][1000 genomes]
rs568320	0.89[AMR][1000 genomes]
rs583854	0.89[AMR][1000 genomes]
rs586509	0.89[AMR][1000 genomes]
rs595083	0.89[AMR][1000 genomes]
rs631352	0.89[AMR][1000 genomes]
rs646018	0.89[AMR][1000 genomes]
rs662989	0.89[AMR][1000 genomes]
rs674205	0.89[AMR][1000 genomes]
rs675496	0.89[AMR][1000 genomes]
rs675919	0.89[AMR][1000 genomes]
rs678233	0.89[AMR][1000 genomes]
rs678283	0.89[AMR][1000 genomes]
rs679619	0.89[AMR][1000 genomes]
rs688158	0.89[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59093200-59115400	Weak transcription	NHEK	skin
2	chr1:59096000-59121600	Weak transcription	HUVEC	blood vessel
3	chr1:59096600-59121600	Weak transcription	Gastric	stomach
4	chr1:59102000-59130400	Weak transcription	Aorta	Aorta
5	chr1:59103600-59115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:59104600-59115600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:59104600-59115600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:59108000-59115600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:59108200-59130400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:59108400-59115600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:59108600-59121600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:59108800-59114400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:59109000-59121600	Weak transcription	HepG2	liver
14	chr1:59109400-59121600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:59109600-59117800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:59109800-59115400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:59109800-59115800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:59110400-59121600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:59110400-59123600	Weak transcription	HSMMtube	muscle
20	chr1:59110600-59114400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:59110600-59119200	Weak transcription	Placenta	Placenta
22	chr1:59110800-59115400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:59110800-59125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:59111600-59118200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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