Variant report

Variant	rs17131669
Chromosome Location	chr1:93380004-93380005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93379243..93381867-chr1:93410629..93413052,2	K562	blood:
2	chr1:93378085..93380921-chr1:93384077..93385696,2	K562	blood:
3	chr1:93296983..93299695-chr1:93379242..93381030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10157869	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10159030	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114004	1.00[EUR][1000 genomes]
rs12564537	1.00[JPT][hapmap]
rs13373836	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374961	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13374962	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17131670	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131672	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131673	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131674	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17131676	1.00[EUR][1000 genomes]
rs17131677	1.00[EUR][1000 genomes]
rs2391198	1.00[JPT][hapmap]
rs4394666	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59078677	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60165854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60684469	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61318253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673190	1.00[EUR][1000 genomes]
rs7515224	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7519363	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7539571	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7552766	1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9324344	1.00[EUR][1000 genomes]
rs9324345	1.00[JPT][hapmap];1.00[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93366400-93409200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:93367000-93390400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:93369000-93394200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:93370400-93395000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:93370600-93395000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:93374200-93384800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:93374600-93382200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:93375200-93384400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:93375400-93380400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:93375400-93380800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:93375600-93380800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:93375800-93381000	Weak transcription	NHLF	lung
13	chr1:93376000-93380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:93376000-93381000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:93376000-93381000	Weak transcription	HepG2	liver
16	chr1:93376000-93381200	Weak transcription	Osteobl	bone
17	chr1:93376000-93382000	Weak transcription	Gastric	stomach
18	chr1:93376000-93382000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:93376000-93382400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:93376000-93384400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:93376000-93387000	Weak transcription	Brain Anterior Caudate	brain
22	chr1:93376000-93388200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:93376000-93395400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:93376000-93400400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:93376600-93386800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:93376600-93388000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:93376800-93395400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:93377000-93382200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:93377000-93401400	Weak transcription	Dnd41	blood
30	chr1:93377200-93382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:93379000-93382400	Weak transcription	HMEC	breast
32	chr1:93379400-93381000	Weak transcription	Liver	Liver
33	chr1:93380000-93380400	Enhancers	Primary B cells from peripheral blood	blood

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