Variant report

Variant	rs8073936
Chromosome Location	chr17:45211271-45211272
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1102461	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079756	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1634269	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs221596	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs221603	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs221604	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221605	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221607	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2678693	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968308	0.81[ASN][1000 genomes]
rs6504743	0.94[ASN][1000 genomes]
rs6504744	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7208288	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs858671	0.85[ASN][1000 genomes]
rs858675	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858680	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9747171	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45192400-45212800	Weak transcription	Gastric	stomach
2	chr17:45193200-45212800	Weak transcription	Aorta	Aorta
3	chr17:45194800-45212800	Weak transcription	Colonic Mucosa	Colon
4	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:45195800-45212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:45196200-45212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:45196400-45212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:45196400-45212800	Weak transcription	Ovary	ovary
10	chr17:45196600-45213000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:45196600-45213000	Weak transcription	Esophagus	oesophagus
12	chr17:45198000-45212000	Strong transcription	Fetal Stomach	stomach
13	chr17:45198200-45212800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:45198200-45212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:45198200-45212800	Weak transcription	Brain Angular Gyrus	brain
16	chr17:45198400-45212800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:45198600-45212800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:45198800-45212800	Weak transcription	Fetal Heart	heart
19	chr17:45199000-45211800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:45199000-45212800	Weak transcription	Pancreas	Pancrea
21	chr17:45199400-45212800	Weak transcription	Psoas Muscle	Psoas
22	chr17:45199600-45212800	Weak transcription	Small Intestine	intestine
23	chr17:45199800-45212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:45200000-45212800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:45200000-45212800	Weak transcription	NHEK	skin
26	chr17:45200600-45212800	Weak transcription	Fetal Brain Male	brain
27	chr17:45201800-45212800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:45203800-45213000	Weak transcription	Right Ventricle	heart
29	chr17:45204200-45212800	Weak transcription	NHLF	lung
30	chr17:45204600-45212800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:45204800-45211600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:45205800-45212800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:45205800-45212800	Weak transcription	Lung	lung
34	chr17:45206000-45212800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:45206400-45215200	Weak transcription	Brain Germinal Matrix	brain
36	chr17:45206600-45212400	Weak transcription	Fetal Brain Female	brain
37	chr17:45206600-45212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:45206600-45212800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45206600-45212800	Weak transcription	Brain Substantia Nigra	brain
40	chr17:45206800-45212800	Weak transcription	GM12878-XiMat	blood
41	chr17:45207000-45212800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:45207200-45212800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr17:45207200-45212800	Weak transcription	Brain Hippocampus Middle	brain
44	chr17:45207200-45212800	Weak transcription	Hela-S3	cervix
45	chr17:45207200-45212800	Weak transcription	HMEC	breast
46	chr17:45207200-45212800	Weak transcription	K562	blood
47	chr17:45207400-45212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr17:45207400-45212800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr17:45207400-45212800	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:45207400-45212800	Weak transcription	Fetal Kidney	kidney

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