Variant report

Variant	rs72646321
Chromosome Location	chr8:48328366-48328367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48326655..48329493-chr8:48335487..48337638,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10107926	0.94[EUR][1000 genomes]
rs10481296	0.94[EUR][1000 genomes]
rs12216833	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1552667	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16925570	0.84[AFR][1000 genomes]
rs16927307	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55841214	0.92[EUR][1000 genomes]
rs55918561	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56107210	0.94[EUR][1000 genomes]
rs56391539	0.92[EUR][1000 genomes]
rs58828084	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6472453	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6989958	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992107	0.89[AFR][1000 genomes]
rs6992139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011833	0.90[EUR][1000 genomes]
rs72644585	0.92[EUR][1000 genomes]
rs72644587	0.87[EUR][1000 genomes]
rs72644597	1.00[EUR][1000 genomes]
rs72644602	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72646317	0.92[EUR][1000 genomes]
rs72646324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646330	0.93[EUR][1000 genomes]
rs72646348	0.96[EUR][1000 genomes]
rs72646350	0.96[EUR][1000 genomes]
rs7822371	0.94[EUR][1000 genomes]
rs7824929	0.84[AFR][1000 genomes]
rs7829543	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7834901	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7839055	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9643810	0.87[EUR][1000 genomes]
rs9650144	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48290800-48347400	Weak transcription	HepG2	liver
2	chr8:48299600-48331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:48300400-48331400	Weak transcription	Fetal Brain Male	brain
4	chr8:48301400-48341200	Weak transcription	HSMMtube	muscle
5	chr8:48308400-48343600	Weak transcription	Colonic Mucosa	Colon
6	chr8:48308800-48331000	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:48308800-48341200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:48310000-48350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:48310600-48343600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
11	chr8:48311600-48353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:48311800-48329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:48312000-48349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:48312200-48353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:48312400-48341200	Weak transcription	K562	blood
16	chr8:48312800-48342600	Weak transcription	Left Ventricle	heart
17	chr8:48312800-48342600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:48312800-48358600	Weak transcription	Thymus	Thymus
19	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
20	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
21	chr8:48313000-48343400	Weak transcription	Aorta	Aorta
22	chr8:48313200-48361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:48313400-48352800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:48314000-48331600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:48319800-48334200	Weak transcription	Placenta	Placenta
26	chr8:48321800-48333000	Weak transcription	Brain Anterior Caudate	brain
27	chr8:48322600-48340000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:48323000-48340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:48323000-48354200	Weak transcription	Spleen	Spleen
30	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:48323200-48343400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:48324200-48329400	Weak transcription	Brain Angular Gyrus	brain
33	chr8:48325600-48328600	Strong transcription	Primary T cells from cord blood	blood
34	chr8:48325800-48330400	Weak transcription	A549	lung
35	chr8:48326000-48330600	Weak transcription	Brain Substantia Nigra	brain
36	chr8:48326000-48331000	Weak transcription	NHLF	lung
37	chr8:48326000-48340200	Weak transcription	Lung	lung
38	chr8:48326000-48341200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:48326000-48366000	Weak transcription	Gastric	stomach
40	chr8:48326200-48329200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:48326200-48329400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:48326200-48329400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:48326200-48330200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:48326200-48335000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:48326200-48341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:48326200-48342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:48326200-48343400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:48326200-48354800	Weak transcription	HMEC	breast
49	chr8:48326200-48362600	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:48326400-48330800	Weak transcription	Adipose Nuclei	Adipose

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