Variant report

Variant	rs57094368
Chromosome Location	chr8:100161143-100161144
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1003165	1.00[AMR][1000 genomes]
rs1003166	1.00[AMR][1000 genomes]
rs12114957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897309	1.00[AMR][1000 genomes]
rs16897313	1.00[AMR][1000 genomes]
rs16897320	1.00[AMR][1000 genomes]
rs16897335	1.00[AMR][1000 genomes]
rs56668101	1.00[AMR][1000 genomes]
rs57070412	1.00[AMR][1000 genomes]
rs57350235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57879149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57899023	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58805953	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59980540	1.00[AMR][1000 genomes]
rs60932963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61199835	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61380879	1.00[AMR][1000 genomes]
rs61387340	1.00[AMR][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	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv932917	chr8:100074076-100193594	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv933589	chr8:100127908-100232809	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100102200-100162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:100103400-100175600	Weak transcription	NHEK	skin
3	chr8:100105000-100162800	Weak transcription	NHLF	lung
4	chr8:100107000-100162400	Weak transcription	Fetal Kidney	kidney
5	chr8:100108200-100173000	Weak transcription	Hela-S3	cervix
6	chr8:100109200-100197600	Weak transcription	HUVEC	blood vessel
7	chr8:100109600-100198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:100122000-100163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:100122000-100201200	Weak transcription	Gastric	stomach
10	chr8:100127200-100162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:100131000-100176000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:100131800-100162600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:100131800-100197600	Weak transcription	Lung	lung
14	chr8:100133200-100163400	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:100134000-100171200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:100143200-100166800	Weak transcription	HMEC	breast
17	chr8:100144200-100163000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:100146600-100162200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:100148000-100161800	Weak transcription	Brain Germinal Matrix	brain
20	chr8:100148200-100162800	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:100149000-100162800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:100149800-100162400	Weak transcription	NH-A	brain
23	chr8:100150200-100164800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:100150800-100162800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:100151000-100188200	Weak transcription	Aorta	Aorta
26	chr8:100151200-100162600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:100153800-100162800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:100155200-100164000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:100155600-100162600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:100156200-100162800	Weak transcription	Brain Anterior Caudate	brain
31	chr8:100156200-100162800	Weak transcription	Fetal Brain Male	brain
32	chr8:100157400-100162600	Strong transcription	Primary T cells from cord blood	blood
33	chr8:100157600-100162400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:100157800-100165400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:100158000-100189400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:100158200-100162000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:100159000-100162800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:100159000-100162800	Strong transcription	Liver	Liver
39	chr8:100159000-100163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:100159000-100164200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:100159200-100166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:100159600-100162800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:100159600-100163200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:100159600-100164000	Strong transcription	Osteobl	bone
45	chr8:100159600-100168600	Weak transcription	Stomach Mucosa	stomach
46	chr8:100160000-100161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:100160000-100162000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:100160000-100162800	Strong transcription	Fetal Intestine Large	intestine
49	chr8:100160000-100163200	Strong transcription	NHDF-Ad	bronchial
50	chr8:100160000-100164000	Strong transcription	Primary monocytes fromperipheralblood	blood

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