Variant report

Variant	rs17679361
Chromosome Location	chr17:38412542-38412543
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

Variant related genes	Relation type
WIPF2	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs10512482	0.92[EUR][1000 genomes]
rs1104761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540720	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11867902	1.00[CEU][hapmap]
rs12103533	0.92[EUR][1000 genomes]
rs15685	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965660	0.92[EUR][1000 genomes]
rs16965669	0.92[EUR][1000 genomes]
rs16965734	0.92[EUR][1000 genomes]
rs16965736	0.92[EUR][1000 genomes]
rs16965748	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965774	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965778	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17616365	1.00[AMR][1000 genomes]
rs17616543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17678817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679038	1.00[AFR][1000 genomes]
rs17679086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680410	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2012667	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229773	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362320	0.92[EUR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526298	0.92[EUR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34270904	0.92[EUR][1000 genomes]
rs34300454	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283417	0.92[EUR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134998	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135019	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135021	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135027	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135030	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45612441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214783	0.85[EUR][1000 genomes]
rs72819623	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes]
rs72819651	1.00[AFR][1000 genomes]
rs8067519	0.92[EUR][1000 genomes]
rs8071687	0.92[EUR][1000 genomes]
rs8077482	0.92[EUR][1000 genomes]
rs9889905	0.92[EUR][1000 genomes]
rs9891944	1.00[EUR][1000 genomes]
rs9894364	0.92[EUR][1000 genomes]
rs9894807	0.92[EUR][1000 genomes]
rs9898500	0.92[EUR][1000 genomes]
rs9899425	0.92[EUR][1000 genomes]
rs9900154	0.92[EUR][1000 genomes]
rs9903293	0.92[EUR][1000 genomes]
rs9906274	1.00[EUR][1000 genomes]
rs9909777	0.92[EUR][1000 genomes]
rs9909811	0.92[EUR][1000 genomes]
rs9910373	0.92[EUR][1000 genomes]
rs9915775	0.92[EUR][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	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
2	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:38377600-38412800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr17:38379200-38413000	Weak transcription	Pancreas	Pancrea
5	chr17:38390200-38413000	Weak transcription	Colonic Mucosa	Colon
6	chr17:38390800-38416600	Weak transcription	Gastric	stomach
7	chr17:38391000-38412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:38391000-38412600	Weak transcription	Placenta	Placenta
9	chr17:38391200-38412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:38391200-38412600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:38391200-38413600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:38391200-38416800	Weak transcription	Esophagus	oesophagus
13	chr17:38391400-38413600	Weak transcription	Spleen	Spleen
14	chr17:38391400-38414600	Weak transcription	Primary B cells from cord blood	blood
15	chr17:38392000-38412600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:38392600-38412600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:38392800-38412600	Weak transcription	Left Ventricle	heart
18	chr17:38392800-38413400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:38393800-38412600	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:38393800-38413000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:38400800-38412600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:38401600-38412600	Weak transcription	Liver	Liver
23	chr17:38402000-38412600	Weak transcription	Lung	lung
24	chr17:38402400-38412800	Weak transcription	GM12878-XiMat	blood
25	chr17:38403400-38412600	Weak transcription	Thymus	Thymus
26	chr17:38406800-38416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:38407200-38413000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr17:38407800-38429800	Weak transcription	Stomach Mucosa	stomach
29	chr17:38408200-38412600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr17:38408200-38412800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:38408200-38412800	Weak transcription	HUVEC	blood vessel
32	chr17:38408200-38420600	Weak transcription	K562	blood
33	chr17:38408200-38421800	Weak transcription	Fetal Heart	heart
34	chr17:38408400-38412600	Weak transcription	HMEC	breast
35	chr17:38408400-38412800	Weak transcription	HSMMtube	muscle
36	chr17:38408600-38412600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:38408600-38412600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:38408600-38412600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:38408600-38412600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:38408600-38412600	Weak transcription	Brain Anterior Caudate	brain
41	chr17:38408600-38412600	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:38408600-38412600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:38408600-38412600	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:38408600-38412600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:38408600-38412600	Weak transcription	Ovary	ovary
46	chr17:38408600-38412600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:38408600-38412600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:38408600-38412600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr17:38408600-38412800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr17:38408600-38413000	Weak transcription	Fetal Kidney	kidney

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