Variant report

Variant	rs2975689
Chromosome Location	chr8:10116299-10116300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10086995	1.00[ASN][1000 genomes]
rs10098384	1.00[ASN][1000 genomes]
rs10098637	1.00[ASN][1000 genomes]
rs10101698	1.00[ASN][1000 genomes]
rs10111805	1.00[ASN][1000 genomes]
rs11249991	1.00[ASN][1000 genomes]
rs11774051	1.00[ASN][1000 genomes]
rs11778030	1.00[ASN][1000 genomes]
rs17151609	1.00[ASN][1000 genomes]
rs2004677	1.00[ASN][1000 genomes]
rs2004679	1.00[ASN][1000 genomes]
rs28399330	1.00[ASN][1000 genomes]
rs28526848	1.00[ASN][1000 genomes]
rs28602752	1.00[ASN][1000 genomes]
rs28707596	1.00[ASN][1000 genomes]
rs2952181	1.00[EUR][1000 genomes]
rs2952221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952224	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2952243	1.00[EUR][1000 genomes]
rs2952244	1.00[EUR][1000 genomes]
rs2975704	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2975705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2975723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4841325	1.00[ASN][1000 genomes]
rs55836840	1.00[ASN][1000 genomes]
rs66533014	1.00[ASN][1000 genomes]
rs7000550	1.00[ASN][1000 genomes]
rs7812334	1.00[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	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
2	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
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10103200-10117800	Weak transcription	Pancreas	Pancrea
3	chr8:10103600-10118000	Weak transcription	Gastric	stomach
4	chr8:10103600-10122600	Weak transcription	Spleen	Spleen
5	chr8:10104000-10124600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:10105600-10122800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:10112200-10119200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:10112200-10124600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:10112200-10124600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:10112200-10127800	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:10112800-10116800	Weak transcription	Fetal Brain Female	brain
12	chr8:10113000-10123200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:10113600-10117000	Weak transcription	Brain Germinal Matrix	brain
14	chr8:10113600-10124600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:10115400-10117400	Enhancers	Fetal Intestine Large	intestine
16	chr8:10115400-10122400	Weak transcription	Liver	Liver
17	chr8:10115600-10117600	Enhancers	Fetal Intestine Small	intestine
18	chr8:10115800-10117400	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:10116200-10116400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:10116200-10124600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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