Variant report

Variant	rs9643810
Chromosome Location	chr8:48215648-48215649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10107926	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10481296	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12216833	0.87[EUR][1000 genomes]
rs1552667	0.93[EUR][1000 genomes]
rs16927307	0.84[EUR][1000 genomes]
rs55841214	0.80[EUR][1000 genomes]
rs55918561	0.84[EUR][1000 genomes]
rs56107210	0.82[EUR][1000 genomes]
rs56391539	0.80[EUR][1000 genomes]
rs58828084	0.82[EUR][1000 genomes]
rs6989958	0.87[EUR][1000 genomes]
rs6992139	0.87[EUR][1000 genomes]
rs7011833	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72644585	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72644587	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72644597	0.87[EUR][1000 genomes]
rs72644602	0.85[EUR][1000 genomes]
rs72646317	0.84[EUR][1000 genomes]
rs72646321	0.87[EUR][1000 genomes]
rs72646324	0.87[EUR][1000 genomes]
rs72646330	0.91[EUR][1000 genomes]
rs72646348	0.84[EUR][1000 genomes]
rs72646350	0.84[EUR][1000 genomes]
rs7822371	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7829543	0.84[EUR][1000 genomes]
rs7834901	0.93[EUR][1000 genomes]
rs7839055	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9650144	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1801781	chr8:48205935-48221673	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48189600-48225000	Weak transcription	HUVEC	blood vessel
3	chr8:48191400-48216600	Weak transcription	Colonic Mucosa	Colon
4	chr8:48196800-48216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:48199200-48221800	Weak transcription	NHEK	skin
6	chr8:48199200-48227800	Weak transcription	HMEC	breast
7	chr8:48201800-48220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:48204400-48216000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:48204400-48227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:48204600-48227000	Weak transcription	K562	blood
11	chr8:48204600-48229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:48204800-48219000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:48205000-48215800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:48205000-48227600	Weak transcription	Hela-S3	cervix
15	chr8:48207200-48217600	Weak transcription	Fetal Heart	heart
16	chr8:48207200-48218400	Weak transcription	Gastric	stomach
17	chr8:48207200-48231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:48207400-48216000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:48207400-48224200	Weak transcription	Spleen	Spleen
20	chr8:48207400-48224600	Weak transcription	HepG2	liver
21	chr8:48207400-48229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:48207400-48238200	Weak transcription	Aorta	Aorta
23	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:48207600-48216200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:48207600-48217200	Weak transcription	GM12878-XiMat	blood
26	chr8:48207600-48227200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:48207600-48245600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:48207600-48248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:48208200-48217600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:48208400-48217000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:48208400-48227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:48208400-48240000	Weak transcription	Placenta	Placenta
33	chr8:48208400-48243800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:48208600-48216600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:48208600-48216800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:48208600-48221400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:48208600-48221800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:48208800-48220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:48208800-48242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:48209000-48227600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:48209400-48216000	Weak transcription	Fetal Brain Male	brain
42	chr8:48209400-48218600	Weak transcription	Brain Angular Gyrus	brain
43	chr8:48209400-48227600	Weak transcription	Osteobl	bone
44	chr8:48209400-48230800	Weak transcription	Brain Substantia Nigra	brain
45	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:48209600-48218400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:48209600-48221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:48209600-48222000	Weak transcription	Liver	Liver
49	chr8:48209800-48219000	Weak transcription	Adipose Nuclei	Adipose
50	chr8:48209800-48221400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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