Variant report

Variant	rs62488698
Chromosome Location	chr8:9964402-9964403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9963502..9966052-chr8:9972558..9974638,2	MCF-7	breast:
2	chr8:9911729..9913700-chr8:9963859..9966058,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction
ENSG00000260093	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10104911	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11785434	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11990610	0.90[ASN][1000 genomes]
rs11990614	0.90[ASN][1000 genomes]
rs12114195	0.85[ASN][1000 genomes]
rs12115063	0.84[ASN][1000 genomes]
rs12550244	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1484638	0.88[ASN][1000 genomes]
rs1564808	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17149332	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17151108	0.85[ASN][1000 genomes]
rs17151145	0.84[ASN][1000 genomes]
rs17151147	0.84[ASN][1000 genomes]
rs17151188	0.83[ASN][1000 genomes]
rs17151193	0.82[ASN][1000 genomes]
rs1994223	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1994224	0.86[ASN][1000 genomes]
rs2046398	0.89[ASN][1000 genomes]
rs4294187	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841280	0.82[ASN][1000 genomes]
rs62488697	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62488709	0.81[ASN][1000 genomes]
rs62488714	0.83[ASN][1000 genomes]
rs7830843	0.81[ASN][1000 genomes]
rs7843906	0.83[ASN][1000 genomes]
rs936749	0.81[ASN][1000 genomes]
rs963593	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9957000-9965400	Weak transcription	Brain Angular Gyrus	brain
2	chr8:9958600-9965200	Weak transcription	Fetal Heart	heart
3	chr8:9959800-9974000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:9961200-9967400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:9961400-9970400	Weak transcription	Pancreas	Pancrea
6	chr8:9962000-9969000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:9962400-9965800	Weak transcription	Psoas Muscle	Psoas
8	chr8:9962600-9966800	Weak transcription	Spleen	Spleen
9	chr8:9963000-9970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:9963200-9966200	Weak transcription	Brain Germinal Matrix	brain
11	chr8:9963200-9970400	Weak transcription	Aorta	Aorta
12	chr8:9963800-9964600	Weak transcription	Gastric	stomach
13	chr8:9963800-9967200	Enhancers	Fetal Brain Male	brain
14	chr8:9964000-9965000	Weak transcription	Fetal Brain Female	brain
15	chr8:9964200-9964600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:9964200-9965400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:9964400-9964600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:9964400-9964600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:9964400-9965800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:9964400-9966000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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