Variant report

Variant	rs10088698
Chromosome Location	chr8:48654784-48654785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48649183..48653409-chr8:48654511..48657772,8	MCF-7	breast:
2	chr8:48648988..48650565-chr8:48654492..48656247,2	K562	blood:
3	chr8:48645599..48648467-chr8:48653903..48656784,2	K562	blood:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10097783	0.92[JPT][hapmap]
rs10106778	0.92[JPT][hapmap];0.83[TSI][hapmap]
rs10958274	0.83[TSI][hapmap]
rs12334811	0.92[JPT][hapmap];0.83[TSI][hapmap]
rs1487438	0.83[GIH][hapmap];0.83[TSI][hapmap]
rs3614	0.92[JPT][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes]
rs4873770	0.80[GIH][hapmap];0.83[TSI][hapmap]
rs729228	0.83[TSI][hapmap]
rs7813617	0.87[AMR][1000 genomes]
rs7831196	0.83[AMR][1000 genomes]
rs7838910	0.92[JPT][hapmap];0.83[TSI][hapmap]
rs7841661	0.83[TSI][hapmap]
rs8178016	0.83[TSI][hapmap]
rs8178095	0.83[TSI][hapmap]
rs8178258	0.81[AMR][1000 genomes]
rs9918758	0.92[JPT][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv890849	chr8:48644337-48671294	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48651400-48655800	Weak transcription	Fetal Heart	heart
2	chr8:48651800-48655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:48651800-48655400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:48651800-48655600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:48651800-48655800	Weak transcription	Brain Substantia Nigra	brain
6	chr8:48651800-48655800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:48651800-48656000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:48651800-48656000	Weak transcription	Left Ventricle	heart
9	chr8:48651800-48656000	Weak transcription	Ovary	ovary
10	chr8:48651800-48656000	Weak transcription	Right Atrium	heart
11	chr8:48651800-48656400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:48652000-48655200	Weak transcription	Fetal Lung	lung
13	chr8:48652000-48655400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:48652000-48655400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:48652000-48655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:48652000-48655600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:48652000-48655800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:48652000-48655800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:48652000-48655800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:48652000-48655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:48652000-48655800	Weak transcription	NHDF-Ad	bronchial
22	chr8:48652000-48655800	Weak transcription	Osteobl	bone
23	chr8:48652000-48656000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:48652000-48656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:48652000-48656000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:48652000-48656000	Weak transcription	Right Ventricle	heart
27	chr8:48652000-48656000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:48652000-48656000	Weak transcription	NHLF	lung
29	chr8:48652000-48656200	Weak transcription	Fetal Brain Male	brain
30	chr8:48652000-48656200	Weak transcription	Psoas Muscle	Psoas
31	chr8:48652000-48656200	Weak transcription	HSMMtube	muscle
32	chr8:48652200-48655400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:48652600-48655800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:48652600-48656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:48652600-48656000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:48653000-48656600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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