Variant report

Variant	rs4841331
Chromosome Location	chr8:10266972-10266973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10112584	0.89[GIH][hapmap]
rs10113408	0.89[GIH][hapmap]
rs10216979	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10435713	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11249997	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes]
rs12549419	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12674649	0.86[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12677754	0.82[AMR][1000 genomes]
rs12679662	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13249940	0.86[GIH][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs1986973	0.92[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750314	0.81[GIH][hapmap]
rs4311657	0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs4382479	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62493467	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7009513	0.81[GIH][hapmap]
rs7821432	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv465460	chr8:10241411-10290566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610265	chr8:10241411-10290566	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1019701	chr8:10254709-10279269	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890348	chr8:10265712-10289663	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10249000-10275200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:10255200-10267800	Weak transcription	Primary T cells from cord blood	blood
4	chr8:10256000-10267600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:10257000-10267600	Weak transcription	Right Ventricle	heart
6	chr8:10257000-10274400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:10257600-10267000	Weak transcription	Right Atrium	heart
8	chr8:10258200-10267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:10258200-10274400	Weak transcription	Esophagus	oesophagus
10	chr8:10261200-10273000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:10261400-10268600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:10261800-10274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:10262000-10275200	Weak transcription	Psoas Muscle	Psoas
14	chr8:10262200-10267200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:10262800-10268000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:10263000-10268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:10263200-10271800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:10263400-10267000	Weak transcription	HSMMtube	muscle
19	chr8:10263400-10268600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:10263600-10267000	Weak transcription	Fetal Brain Female	brain
21	chr8:10263600-10267800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:10263600-10275200	Weak transcription	Pancreas	Pancrea
23	chr8:10263600-10283400	Weak transcription	Fetal Intestine Small	intestine
24	chr8:10263800-10267200	Weak transcription	Fetal Brain Male	brain
25	chr8:10263800-10269800	Weak transcription	Spleen	Spleen
26	chr8:10264200-10267800	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:10264600-10268800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:10265000-10270200	Weak transcription	Liver	Liver
29	chr8:10265800-10267000	Weak transcription	Left Ventricle	heart
30	chr8:10265800-10267600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:10266400-10268800	Enhancers	Fetal Heart	heart
32	chr8:10266800-10267200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:10266800-10270200	Enhancers	Brain Germinal Matrix	brain

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