Variant report

Variant	rs2513823
Chromosome Location	chr8:99082125-99082126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99076443..99079804-chr8:99082104..99085952,3	K562	blood:
2	chr8:99056168..99061839-chr8:99079286..99085129,10	MCF-7	breast:
3	chr8:99080196..99082258-chr8:99098003..99099525,2	MCF-7	breast:
4	chr8:99056787..99062445-chr8:99080165..99085454,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252755	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000177459	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10093417	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1378122	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1454713	0.81[JPT][hapmap]
rs2010016	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061052	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2255317	0.81[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2331692	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2444857	0.88[JPT][hapmap]
rs2444859	0.82[ASN][1000 genomes]
rs2444866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2444885	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2444894	0.83[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2444898	0.81[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2447488	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2513806	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2513808	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2513815	0.87[ASN][1000 genomes]
rs2513817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2513819	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2959642	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs748324	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99077600-99083200	Enhancers	Liver	Liver
2	chr8:99078200-99082200	Weak transcription	Pancreas	Pancrea
3	chr8:99078200-99082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:99080200-99083400	Enhancers	HepG2	liver
5	chr8:99080400-99082400	Enhancers	Duodenum Mucosa	Duodenum
6	chr8:99080400-99082400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr8:99080600-99082200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:99080800-99082400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:99080800-99082400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:99080800-99082400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:99080800-99082400	Enhancers	A549	lung
12	chr8:99080800-99082600	Enhancers	Fetal Heart	heart
13	chr8:99080800-99084400	Enhancers	Fetal Intestine Small	intestine
14	chr8:99081200-99082200	Weak transcription	Fetal Intestine Large	intestine
15	chr8:99081400-99082200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:99081400-99082600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:99081600-99082200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:99081600-99082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:99081800-99082200	Weak transcription	Stomach Mucosa	stomach
20	chr8:99081800-99082200	Enhancers	Hela-S3	cervix
21	chr8:99081800-99082400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:99081800-99082400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:99082000-99082200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:99082000-99082200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:99082000-99082200	Enhancers	Fetal Kidney	kidney
26	chr8:99082000-99082400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:99082000-99082400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:99082000-99083000	Enhancers	GM12878-XiMat	blood
29	chr8:99082000-99083400	Enhancers	Placenta	Placenta

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