Variant report

Variant	rs7821542
Chromosome Location	chr8:48361595-48361596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48356855..48359120-chr8:48360293..48362250,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10086266	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10090708	0.92[AFR][1000 genomes]
rs10093950	1.00[AMR][1000 genomes]
rs10094689	0.92[AFR][1000 genomes]
rs10099656	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10102782	1.00[AMR][1000 genomes]
rs10104074	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104642	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10105470	1.00[YRI][hapmap]
rs10110049	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111833	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10111963	0.92[YRI][hapmap]
rs11987727	1.00[AMR][1000 genomes]
rs11993708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28366397	1.00[AMR][1000 genomes]
rs28382309	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28393034	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs28408352	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28475848	1.00[AMR][1000 genomes]
rs28516473	1.00[AMR][1000 genomes]
rs28533391	0.92[AFR][1000 genomes]
rs28583978	1.00[AMR][1000 genomes]
rs28587193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28603312	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631595	1.00[AMR][1000 genomes]
rs28700053	1.00[AMR][1000 genomes]
rs28812531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28846165	1.00[AMR][1000 genomes]
rs28895958	1.00[AMR][1000 genomes]
rs28897086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59944663	1.00[AMR][1000 genomes]
rs6980675	0.81[AFR][1000 genomes]
rs6989067	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6994360	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7003614	0.84[AFR][1000 genomes]
rs7014936	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs73676311	1.00[AMR][1000 genomes]
rs73676316	1.00[AMR][1000 genomes]
rs7823419	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7831198	1.00[AFR][1000 genomes]
rs9657080	1.00[YRI][hapmap];1.00[AFR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
2	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
3	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:48326000-48366000	Weak transcription	Gastric	stomach
5	chr8:48326200-48362600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:48328400-48362600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:48328600-48361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:48328600-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:48328600-48364000	Weak transcription	Fetal Intestine Large	intestine
10	chr8:48328600-48371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:48328600-48374600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:48335000-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:48335400-48363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:48340400-48364000	Weak transcription	Lung	lung
15	chr8:48340600-48365600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:48342000-48362600	Weak transcription	Ovary	ovary
17	chr8:48342200-48372600	Weak transcription	Liver	Liver
18	chr8:48342600-48364000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:48343800-48366800	Weak transcription	Aorta	Aorta
20	chr8:48343800-48371400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:48344200-48363200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:48344400-48363200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:48344800-48362800	Weak transcription	A549	lung
24	chr8:48345000-48369800	Weak transcription	NH-A	brain
25	chr8:48345000-48370600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:48346200-48362600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:48347200-48366000	Weak transcription	Fetal Thymus	thymus
28	chr8:48349600-48362400	Weak transcription	Fetal Intestine Small	intestine
29	chr8:48349600-48363800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:48349600-48363800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:48351000-48363800	Weak transcription	Fetal Stomach	stomach
32	chr8:48351400-48387000	Weak transcription	Left Ventricle	heart
33	chr8:48351600-48364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:48352400-48361800	Weak transcription	GM12878-XiMat	blood
35	chr8:48352400-48364000	Weak transcription	Adipose Nuclei	Adipose
36	chr8:48352400-48365200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:48353000-48374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:48353200-48364000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:48353200-48364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:48353400-48362400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:48353400-48364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:48353400-48364400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:48353400-48374600	Weak transcription	Fetal Kidney	kidney
45	chr8:48353400-48374600	Weak transcription	HSMMtube	muscle
46	chr8:48353400-48382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:48353600-48363400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:48353600-48363800	Weak transcription	Fetal Lung	lung
49	chr8:48353600-48364200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:48353800-48362800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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