Variant report

Variant	rs17712877
Chromosome Location	chr3:45848760-45848761
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45817620..45820058-chr3:45848414..45850777,2	K562	blood:
2	chr3:45841159..45843943-chr3:45848484..45850929,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10490770	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13071258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13078854	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13081482	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17713054	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17763537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763569	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34288077	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34326463	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34668658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35044562	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35081325	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35508621	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35624553	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35652899	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35731912	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35896106	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67959919	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71325088	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72893671	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73064425	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73064431	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45838400-45860000	Weak transcription	Gastric	stomach
2	chr3:45842000-45849400	Strong transcription	Dnd41	blood
3	chr3:45842400-45857400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:45842400-45859200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:45842400-45859800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:45842600-45854400	Weak transcription	Fetal Intestine Large	intestine
7	chr3:45843800-45849800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:45843800-45856400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:45844000-45857400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:45845400-45853600	Weak transcription	Fetal Intestine Small	intestine
11	chr3:45845400-45858800	Weak transcription	Brain Germinal Matrix	brain
12	chr3:45846600-45857400	Weak transcription	Fetal Brain Female	brain
13	chr3:45847000-45849000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:45847600-45849800	Genic enhancers	Fetal Thymus	thymus
15	chr3:45847800-45871400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:45848000-45850000	Enhancers	Brain Substantia Nigra	brain
17	chr3:45848000-45864400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:45848200-45850600	Enhancers	Thymus	Thymus
19	chr3:45848600-45849600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:45848600-45849800	Enhancers	Stomach Smooth Muscle	stomach
21	chr3:45848600-45850200	Enhancers	Brain Angular Gyrus	brain
22	chr3:45848600-45860800	Weak transcription	Primary T cells from cord blood	blood

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