Variant report

Variant	rs11998092
Chromosome Location	chr8:43027652-43027653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11984550	0.89[YRI][hapmap]
rs11984799	1.00[EUR][1000 genomes]
rs11989623	1.00[AMR][1000 genomes]
rs11989793	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11990230	1.00[EUR][1000 genomes]
rs11991458	0.90[YRI][hapmap]
rs11992397	0.88[YRI][hapmap]
rs11992682	0.88[YRI][hapmap]
rs11992987	1.00[AMR][1000 genomes]
rs11994115	1.00[AMR][1000 genomes]
rs11994318	0.89[YRI][hapmap]
rs11995172	1.00[AMR][1000 genomes]
rs28718980	1.00[AMR][1000 genomes]
rs28840077	1.00[AMR][1000 genomes]
rs59592639	1.00[AMR][1000 genomes]
rs60133450	1.00[AMR][1000 genomes]
rs61093151	1.00[AMR][1000 genomes]
rs61156492	1.00[EUR][1000 genomes]
rs61224035	1.00[AMR][1000 genomes]
rs61468554	1.00[EUR][1000 genomes]
rs61743005	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6651368	0.89[YRI][hapmap]
rs6994105	1.00[EUR][1000 genomes]
rs73561434	1.00[EUR][1000 genomes]
rs73569592	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73569600	1.00[EUR][1000 genomes]
rs73571504	1.00[EUR][1000 genomes]
rs73571506	1.00[EUR][1000 genomes]
rs73573418	1.00[EUR][1000 genomes]
rs73575204	1.00[EUR][1000 genomes]
rs73627250	1.00[AMR][1000 genomes]
rs73629108	1.00[AMR][1000 genomes]
rs73629198	1.00[AMR][1000 genomes]
rs73631561	1.00[AMR][1000 genomes]
rs73631573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635357	1.00[AMR][1000 genomes]
rs7841478	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
17	nsv1021734	chr8:42936943-43824036	Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv470208	chr8:42937608-43791691	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv1021100	chr8:42938287-43333639	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv539566	chr8:42938287-43333639	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv1035031	chr8:42940043-43575771	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
22	nsv1031842	chr8:42940043-43729296	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
23	nsv532469	chr8:42970273-43528350	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
24	nsv1027553	chr8:42985051-43729296	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
25	nsv1025569	chr8:42985051-43824036	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
26	nsv1027939	chr8:43007157-43532838	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
27	nsv519841	chr8:43024625-43791691	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
28	nsv465640	chr8:43024625-43791691	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
29	nsv465641	chr8:43024625-43791691	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
30	nsv465642	chr8:43024625-43791691	Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
31	nsv465643	chr8:43024625-43791691	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
32	nsv611144	chr8:43024625-43791691	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
33	nsv1034852	chr8:43025754-43824036	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
34	nsv611145	chr8:43027010-43791691	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 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	chr8:42997600-43031000	Weak transcription	Stomach Mucosa	stomach
2	chr8:43009000-43048400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:43009000-43052000	Weak transcription	Fetal Heart	heart
4	chr8:43012200-43030000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:43013000-43033600	Strong transcription	Stomach Smooth Muscle	stomach
6	chr8:43013200-43029200	Strong transcription	Fetal Stomach	stomach
7	chr8:43013400-43033800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr8:43013600-43030200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:43013600-43030200	Strong transcription	Fetal Brain Female	brain
10	chr8:43013600-43030600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:43013600-43030800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:43013600-43033800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:43013600-43033800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:43013600-43033800	Strong transcription	Fetal Intestine Large	intestine
15	chr8:43013800-43027800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:43013800-43029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:43013800-43031200	Strong transcription	Liver	Liver
18	chr8:43014400-43046600	Weak transcription	HepG2	liver
19	chr8:43015000-43031400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:43016400-43031200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:43018400-43028800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:43019600-43045000	Weak transcription	Hela-S3	cervix
23	chr8:43021800-43031000	Strong transcription	Placenta	Placenta
24	chr8:43021800-43034000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:43022400-43030600	Strong transcription	Left Ventricle	heart
26	chr8:43022400-43033800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:43022600-43028800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:43022800-43033600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:43023200-43028800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:43023200-43030600	Strong transcription	Right Ventricle	heart
31	chr8:43023200-43031000	Strong transcription	Lung	lung
32	chr8:43023800-43029200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:43023800-43030600	Strong transcription	Brain Angular Gyrus	brain
34	chr8:43023800-43030600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:43023800-43033600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:43023800-43033800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:43024000-43030600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:43024200-43033600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:43024200-43034000	Strong transcription	Adipose Nuclei	Adipose
40	chr8:43024400-43028200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:43024400-43028200	Strong transcription	Primary B cells from cord blood	blood
42	chr8:43024400-43028200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:43024400-43028200	Strong transcription	NHEK	skin
44	chr8:43024400-43028800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:43024400-43029000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:43024400-43029000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:43024400-43029000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr8:43024400-43029200	Strong transcription	Brain Hippocampus Middle	brain
49	chr8:43024400-43029200	Strong transcription	Pancreas	Pancrea
50	chr8:43024400-43029400	Strong transcription	Primary T cells fromperipheralblood	blood

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