Variant report

Variant	rs11993799
Chromosome Location	chr8:42725563-42725564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42725397..42727472-chr8:42730244..42732044,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11985288	1.00[YRI][hapmap]
rs11987761	1.00[AFR][1000 genomes]
rs11988193	0.93[AFR][1000 genomes]
rs11989623	1.00[AMR][1000 genomes]
rs11989986	0.92[LWK][hapmap];0.91[MKK][hapmap];1.00[AFR][1000 genomes]
rs11990955	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11992280	1.00[YRI][hapmap]
rs11992987	1.00[AMR][1000 genomes]
rs11993252	0.86[AFR][1000 genomes]
rs11994115	1.00[AMR][1000 genomes]
rs11995127	1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[AFR][1000 genomes]
rs11995172	1.00[AMR][1000 genomes]
rs28718980	1.00[AMR][1000 genomes]
rs28840077	1.00[AMR][1000 genomes]
rs35327613	1.00[AMR][1000 genomes]
rs35349171	1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[AFR][1000 genomes]
rs35506493	1.00[AMR][1000 genomes]
rs57071761	1.00[AMR][1000 genomes]
rs58577394	0.93[AFR][1000 genomes]
rs59523223	0.93[AFR][1000 genomes]
rs59592639	1.00[AMR][1000 genomes]
rs60133450	1.00[AMR][1000 genomes]
rs60389831	0.93[AFR][1000 genomes]
rs61093151	1.00[AMR][1000 genomes]
rs61224035	1.00[AMR][1000 genomes]
rs73627236	0.86[AFR][1000 genomes]
rs73627250	1.00[AMR][1000 genomes]
rs73629108	1.00[AMR][1000 genomes]
rs73633750	1.00[AMR][1000 genomes]
rs73633762	1.00[AMR][1000 genomes]
rs73633763	1.00[AMR][1000 genomes]
rs73634623	1.00[AMR][1000 genomes]
rs73634627	1.00[AMR][1000 genomes]
rs73634630	0.86[AFR][1000 genomes]
rs73634647	0.93[AFR][1000 genomes]
rs73634652	1.00[AMR][1000 genomes]
rs73634656	1.00[AFR][1000 genomes]
rs73634693	0.93[AFR][1000 genomes]
rs73634694	0.93[AFR][1000 genomes]
rs73634697	1.00[AFR][1000 genomes]
rs73634702	1.00[AFR][1000 genomes]
rs73635307	1.00[AFR][1000 genomes]
rs73635310	0.93[AFR][1000 genomes]
rs73635330	1.00[AFR][1000 genomes]
rs73635337	1.00[AFR][1000 genomes]
rs73635339	0.93[AFR][1000 genomes]
rs73635342	0.93[AFR][1000 genomes]
rs73635343	1.00[AFR][1000 genomes]
rs73635347	1.00[AFR][1000 genomes]
rs73635357	1.00[AMR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42699200-42736400	Weak transcription	Thymus	Thymus
2	chr8:42699400-42728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:42699400-42733200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:42699400-42741000	Weak transcription	HepG2	liver
5	chr8:42699400-42745800	Weak transcription	Fetal Heart	heart
6	chr8:42699400-42745800	Weak transcription	Small Intestine	intestine
7	chr8:42699400-42750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:42699600-42748600	Weak transcription	HMEC	breast
9	chr8:42708400-42731600	Strong transcription	Placenta	Placenta
10	chr8:42708400-42749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:42708800-42733200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:42710000-42725800	Strong transcription	Fetal Intestine Large	intestine
13	chr8:42711400-42745800	Weak transcription	Stomach Mucosa	stomach
14	chr8:42711600-42748600	Weak transcription	Fetal Thymus	thymus
15	chr8:42712600-42746000	Weak transcription	NHDF-Ad	bronchial
16	chr8:42713200-42745800	Weak transcription	HUVEC	blood vessel
17	chr8:42714000-42740200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:42714000-42744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:42714000-42746200	Weak transcription	NHLF	lung
20	chr8:42714600-42748400	Weak transcription	Fetal Brain Male	brain
21	chr8:42714800-42741000	Weak transcription	Aorta	Aorta
22	chr8:42716800-42728000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:42716800-42730800	Weak transcription	Hela-S3	cervix
24	chr8:42717000-42748800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:42718000-42733000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:42718200-42733000	Weak transcription	A549	lung
27	chr8:42718200-42735200	Weak transcription	HSMMtube	muscle
28	chr8:42718400-42728800	Weak transcription	NHEK	skin
29	chr8:42718400-42733000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:42718400-42740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:42718600-42732800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:42718600-42736400	Weak transcription	Psoas Muscle	Psoas
33	chr8:42718600-42745800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:42719000-42733200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:42719200-42727800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:42719200-42745800	Weak transcription	Pancreas	Pancrea
37	chr8:42719400-42733200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:42719400-42746000	Weak transcription	NH-A	brain
39	chr8:42719800-42740200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:42719800-42742800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:42719800-42750600	Weak transcription	Esophagus	oesophagus
42	chr8:42720000-42733000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:42720000-42741400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:42720200-42748800	Weak transcription	Colonic Mucosa	Colon
45	chr8:42721400-42728400	Strong transcription	Fetal Muscle Leg	muscle
46	chr8:42721600-42725800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:42721600-42728400	Strong transcription	Adipose Nuclei	Adipose
48	chr8:42721600-42728800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:42721800-42728200	Strong transcription	Liver	Liver
50	chr8:42721800-42728400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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