Variant report

Variant	rs71610430
Chromosome Location	chr4:144210614-144210615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144209479..144212330-chr4:144213134..144215865,2	K562	blood:
2	chr4:144203308..144204917-chr4:144209557..144211230,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10461277	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10461279	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1108827	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13105258	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13137712	0.86[AMR][1000 genomes]
rs13141368	1.00[AFR][1000 genomes]
rs13145718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300907	1.00[ASN][1000 genomes]
rs300944	1.00[ASN][1000 genomes]
rs300945	1.00[ASN][1000 genomes]
rs300950	1.00[ASN][1000 genomes]
rs34176541	0.81[AMR][1000 genomes]
rs34192902	0.81[AMR][1000 genomes]
rs34225955	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34398038	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34589296	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34652171	0.81[AMR][1000 genomes]
rs35027946	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35095943	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35305979	1.00[AFR][1000 genomes]
rs35549285	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35909303	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35971728	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56085707	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs71610422	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs71610423	0.81[AMR][1000 genomes]
rs71610427	0.81[AMR][1000 genomes]
rs71610431	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71610432	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9637656	0.81[AMR][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv880177	chr4:144174773-144214082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144208400-144214000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:144208800-144212200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:144208800-144212200	Weak transcription	Fetal Lung	lung
4	chr4:144209000-144211600	Weak transcription	Ovary	ovary
5	chr4:144209000-144215000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:144209000-144215600	Weak transcription	Right Atrium	heart
7	chr4:144209000-144217800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:144209400-144212200	Weak transcription	NHEK	skin
9	chr4:144209600-144212200	Weak transcription	HMEC	breast
10	chr4:144209600-144212400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:144209600-144215000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:144209600-144215600	Weak transcription	NHLF	lung
13	chr4:144209800-144213600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:144209800-144215000	Weak transcription	Adipose Nuclei	Adipose
15	chr4:144209800-144215600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:144210000-144215200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:144210200-144212200	Weak transcription	Fetal Stomach	stomach
18	chr4:144210200-144212400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:144210400-144215600	Weak transcription	Fetal Muscle Leg	muscle

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