Variant report

Variant	rs28459874
Chromosome Location	chr9:100800655-100800656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100799859..100802210-chr9:100818612..100820734,3	K562	blood:
2	chr9:100797145..100798657-chr9:100798784..100800862,2	K562	blood:
3	chr9:100746098..100747887-chr9:100799710..100801330,2	K562	blood:
4	chr9:100799367..100802266-chr9:100805470..100807708,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095380	Chromatin interaction
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10081625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10081626	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10283632	0.89[EUR][1000 genomes]
rs10283737	0.94[EUR][1000 genomes]
rs10984650	0.88[EUR][1000 genomes]
rs10984775	0.89[EUR][1000 genomes]
rs10984811	0.94[EUR][1000 genomes]
rs10984822	0.92[EUR][1000 genomes]
rs10984829	0.93[EUR][1000 genomes]
rs10984862	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12336903	0.88[EUR][1000 genomes]
rs12338164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12343945	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13290142	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28549286	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28576751	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660049	0.89[EUR][1000 genomes]
rs28715400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66865656	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030197	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7861102	0.86[EUR][1000 genomes]
rs872251	0.89[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	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3493282	chr9:100784615-100805700	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3493283	chr9:100784615-100805700	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 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	chr9:100784000-100803800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:100785000-100801400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:100797400-100801200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:100797400-100802000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:100798000-100801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:100798000-100801800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:100798000-100807000	Weak transcription	Spleen	Spleen
8	chr9:100798000-100807600	Weak transcription	HSMMtube	muscle
9	chr9:100798200-100801400	Enhancers	GM12878-XiMat	blood
10	chr9:100798200-100807400	Weak transcription	Primary B cells from cord blood	blood
11	chr9:100798400-100801200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:100798800-100801200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:100799000-100801600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr9:100799600-100801800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr9:100800000-100801400	Weak transcription	Osteobl	bone
16	chr9:100800200-100801200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:100800200-100801400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:100800200-100801400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:100800200-100801400	Weak transcription	Colonic Mucosa	Colon
20	chr9:100800200-100801400	Weak transcription	HSMM	muscle
21	chr9:100800200-100807000	Weak transcription	K562	blood
22	chr9:100800400-100801600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:100800400-100806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:100800600-100805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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