Variant report

Variant	rs9891718
Chromosome Location	chr17:38399826-38399827
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	chr17:38399598..38402246-chr17:38404914..38407848,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11078939	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11078940	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12944717	0.86[ASN][1000 genomes]
rs12946680	0.84[EUR][1000 genomes]
rs16965687	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077464	0.90[EUR][1000 genomes]
rs2280400	0.81[ASN][1000 genomes]
rs28537537	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28663197	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34223321	0.81[ASN][1000 genomes]
rs35286757	0.82[EUR][1000 genomes]
rs3744806	0.81[ASN][1000 genomes]
rs4077125	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4134994	0.90[EUR][1000 genomes]
rs45567834	0.81[ASN][1000 genomes]
rs4566234	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55835834	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55991953	0.82[ASN][1000 genomes]
rs56013073	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56029626	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57179137	0.89[EUR][1000 genomes]
rs58822685	0.94[ASN][1000 genomes]
rs59018914	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59490243	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59861136	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60220138	0.94[ASN][1000 genomes]
rs61024420	0.84[ASN][1000 genomes]
rs6503539	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67597966	0.87[ASN][1000 genomes]
rs7217852	0.88[EUR][1000 genomes]
rs72836633	0.82[ASN][1000 genomes]
rs72836634	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72836635	0.87[ASN][1000 genomes]
rs72836636	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72836639	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72836640	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72836641	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72836642	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72836648	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72836651	0.94[ASN][1000 genomes]
rs72836653	0.94[ASN][1000 genomes]
rs72836656	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72836660	0.94[ASN][1000 genomes]
rs7359537	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73983025	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8073925	0.83[ASN][1000 genomes]
rs8078204	0.90[ASN][1000 genomes]
rs8078226	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8080931	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8082192	0.81[ASN][1000 genomes]
rs9303285	0.82[EUR][1000 genomes]
rs9891694	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9892404	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9892946	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9892973	0.81[ASN][1000 genomes]
rs9893520	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895163	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897092	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9901109	0.82[ASN][1000 genomes]
rs9904021	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9906409	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9907683	0.82[ASN][1000 genomes]
rs9908034	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9908257	0.94[ASN][1000 genomes]
rs9908354	0.82[ASN][1000 genomes]
rs9910197	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9910788	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9911840	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9912082	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9914531	0.94[ASN][1000 genomes]
rs9916460	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9916782	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv522863	chr17:38388040-38405037	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv525961	chr17:38388040-38405037	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38376600-38400400	Weak transcription	Psoas Muscle	Psoas
2	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
4	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:38377200-38404800	Weak transcription	HSMMtube	muscle
6	chr17:38377400-38408000	Weak transcription	Small Intestine	intestine
7	chr17:38377600-38412800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:38377800-38400400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr17:38379200-38413000	Weak transcription	Pancreas	Pancrea
10	chr17:38381200-38412400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:38381400-38407000	Weak transcription	Hela-S3	cervix
12	chr17:38381400-38407400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:38381400-38407400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:38381400-38407400	Weak transcription	Osteobl	bone
15	chr17:38381800-38407600	Weak transcription	K562	blood
16	chr17:38381800-38408000	Weak transcription	Right Ventricle	heart
17	chr17:38382000-38407600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr17:38382000-38412400	Weak transcription	Fetal Lung	lung
19	chr17:38385400-38407600	Weak transcription	NHEK	skin
20	chr17:38386000-38407800	Weak transcription	Adipose Nuclei	Adipose
21	chr17:38387600-38400200	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:38389800-38407600	Weak transcription	NH-A	brain
23	chr17:38390200-38412200	Weak transcription	HepG2	liver
24	chr17:38390200-38413000	Weak transcription	Colonic Mucosa	Colon
25	chr17:38390400-38407400	Weak transcription	HUVEC	blood vessel
26	chr17:38390800-38416600	Weak transcription	Gastric	stomach
27	chr17:38391000-38401200	Weak transcription	Liver	Liver
28	chr17:38391000-38407000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:38391000-38407600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:38391000-38408000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:38391000-38409800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:38391000-38412400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr17:38391000-38412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:38391000-38412600	Weak transcription	Placenta	Placenta
35	chr17:38391200-38400000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:38391200-38400200	Weak transcription	GM12878-XiMat	blood
37	chr17:38391200-38400400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr17:38391200-38403000	Weak transcription	Thymus	Thymus
39	chr17:38391200-38404600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:38391200-38407600	Weak transcription	A549	lung
41	chr17:38391200-38408000	Weak transcription	Ovary	ovary
42	chr17:38391200-38412200	Weak transcription	Fetal Thymus	thymus
43	chr17:38391200-38412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:38391200-38412600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:38391200-38413600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr17:38391200-38416800	Weak transcription	Esophagus	oesophagus
47	chr17:38391400-38413600	Weak transcription	Spleen	Spleen
48	chr17:38391400-38414600	Weak transcription	Primary B cells from cord blood	blood
49	chr17:38391600-38404800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:38391600-38408000	Weak transcription	Stomach Smooth Muscle	stomach

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