Variant report

Variant	rs8080931
Chromosome Location	chr17:38412221-38412222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr17:38412086-38412771	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr17:38412038-38412232	K562	blood:	n/a	n/a

Variant related genes	Relation type
WIPF2	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11078939	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11078940	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12944717	0.84[ASN][1000 genomes]
rs12946680	0.86[EUR][1000 genomes]
rs16965687	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1807273	0.81[AMR][1000 genomes]
rs2077464	0.92[EUR][1000 genomes]
rs28537537	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28663197	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35286757	0.84[EUR][1000 genomes]
rs4077125	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4134994	0.92[EUR][1000 genomes]
rs4566234	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55656553	0.83[AMR][1000 genomes]
rs55835834	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55991953	0.81[ASN][1000 genomes]
rs56029626	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57179137	0.91[EUR][1000 genomes]
rs58822685	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59018914	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59490243	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59861136	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60220138	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61024420	0.83[ASN][1000 genomes]
rs6503539	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67597966	0.85[ASN][1000 genomes]
rs7217852	0.90[EUR][1000 genomes]
rs72836633	0.81[ASN][1000 genomes]
rs72836634	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72836635	0.85[ASN][1000 genomes]
rs72836636	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72836639	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72836640	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72836641	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72836642	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72836648	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72836651	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72836653	0.97[ASN][1000 genomes]
rs72836656	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72836660	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7359537	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73983025	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8073925	0.81[ASN][1000 genomes]
rs8078204	0.87[ASN][1000 genomes]
rs8078226	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9303285	0.84[EUR][1000 genomes]
rs9891694	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9891718	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9892404	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9892946	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9893520	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9895163	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9897092	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9901109	0.81[ASN][1000 genomes]
rs9904021	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9906409	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9907683	0.81[ASN][1000 genomes]
rs9908034	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9908257	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9908354	0.81[ASN][1000 genomes]
rs9910197	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9910788	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9911840	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9912082	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9914531	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9916460	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9916782	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
3	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:38377600-38412800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:38379200-38413000	Weak transcription	Pancreas	Pancrea
6	chr17:38381200-38412400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:38382000-38412400	Weak transcription	Fetal Lung	lung
8	chr17:38390200-38413000	Weak transcription	Colonic Mucosa	Colon
9	chr17:38390800-38416600	Weak transcription	Gastric	stomach
10	chr17:38391000-38412400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:38391000-38412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:38391000-38412600	Weak transcription	Placenta	Placenta
13	chr17:38391200-38412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:38391200-38412600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:38391200-38413600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:38391200-38416800	Weak transcription	Esophagus	oesophagus
17	chr17:38391400-38413600	Weak transcription	Spleen	Spleen
18	chr17:38391400-38414600	Weak transcription	Primary B cells from cord blood	blood
19	chr17:38392000-38412600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr17:38392600-38412600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:38392800-38412600	Weak transcription	Left Ventricle	heart
22	chr17:38392800-38413400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:38393800-38412600	Weak transcription	Fetal Muscle Leg	muscle
24	chr17:38393800-38413000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:38400800-38412600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:38401400-38412400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:38401600-38412400	Weak transcription	Primary T cells from cord blood	blood
28	chr17:38401600-38412400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr17:38401600-38412600	Weak transcription	Liver	Liver
30	chr17:38402000-38412600	Weak transcription	Lung	lung
31	chr17:38402200-38412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:38402400-38412400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:38402400-38412400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:38402400-38412800	Weak transcription	GM12878-XiMat	blood
35	chr17:38403000-38412400	Weak transcription	Dnd41	blood
36	chr17:38403400-38412600	Weak transcription	Thymus	Thymus
37	chr17:38404000-38412400	Weak transcription	Fetal Brain Female	brain
38	chr17:38405000-38412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:38405600-38412400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:38405800-38412400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:38405800-38412400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:38406800-38416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:38407200-38413000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr17:38407800-38429800	Weak transcription	Stomach Mucosa	stomach
45	chr17:38408200-38412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:38408200-38412600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr17:38408200-38412800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:38408200-38412800	Weak transcription	HUVEC	blood vessel
49	chr17:38408200-38420600	Weak transcription	K562	blood
50	chr17:38408200-38421800	Weak transcription	Fetal Heart	heart

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