Variant report

Variant	rs7553035
Chromosome Location	chr1:211691706-211691707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210545206..210547254-chr1:211690424..211692369,2	MCF-7	breast:
2	chr1:211688371..211691980-chr1:211692436..211695699,4	K562	blood:
3	chr1:211690573..211693033-chr1:211694499..211696048,2	MCF-7	breast:
4	chr1:211687723..211692261-chr1:211692405..211697712,7	MCF-7	breast:
5	chr1:211684185..211686089-chr1:211689090..211692200,3	K562	blood:
6	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11800588	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11805325	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11805328	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11806169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12062602	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17017569	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17017668	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17189035	1.00[CHB][hapmap]
rs2120669	1.00[ASN][1000 genomes]
rs2120670	1.00[ASN][1000 genomes]
rs2120671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57302235	0.97[ASN][1000 genomes]
rs6669700	0.97[ASN][1000 genomes]
rs6699104	0.97[ASN][1000 genomes]
rs7542785	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1826724	chr1:211684336-211694508	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Retinopathy in non-diabetics	23393555	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211688200-211701200	Weak transcription	Gastric	stomach
2	chr1:211689400-211691800	Enhancers	GM12878-XiMat	blood
3	chr1:211689400-211692000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:211689400-211692000	Enhancers	Fetal Intestine Small	intestine
5	chr1:211689400-211692200	Enhancers	Fetal Intestine Large	intestine
6	chr1:211689400-211694400	Weak transcription	Right Atrium	heart
7	chr1:211689400-211701200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:211689600-211691800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:211689600-211692800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:211690200-211693400	Enhancers	Primary B cells from cord blood	blood
12	chr1:211690200-211693400	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:211690200-211698400	Enhancers	Liver	Liver
14	chr1:211690400-211695800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:211690600-211691800	Enhancers	HepG2	liver
16	chr1:211690800-211694000	Weak transcription	Placenta	Placenta
17	chr1:211690800-211694400	Weak transcription	K562	blood
18	chr1:211690800-211694600	Weak transcription	A549	lung
19	chr1:211691000-211700400	Weak transcription	Fetal Thymus	thymus
20	chr1:211691200-211692400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:211691200-211694400	Weak transcription	Hela-S3	cervix
22	chr1:211691400-211693000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:211691600-211691800	Enhancers	Spleen	Spleen
24	chr1:211691600-211692200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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