Variant report

Variant	rs17423699
Chromosome Location	chr3:111432805-111432806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10934102	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10934103	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13071304	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13085147	1.00[CEU][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13090883	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17424287	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34307743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34444935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35320181	0.95[AMR][1000 genomes]
rs3922703	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs3922705	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4234403	1.00[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs4234405	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4308247	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4349472	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs4373040	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4405880	0.88[EUR][1000 genomes]
rs4416359	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4429600	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4438630	0.88[EUR][1000 genomes]
rs4546124	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4642091	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4645114	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4682058	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs4682059	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs4682060	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4682061	0.88[EUR][1000 genomes]
rs4682062	0.82[TSI][hapmap]
rs4682304	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs4682306	0.89[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs4682307	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs4682308	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs4682311	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4682315	0.86[EUR][1000 genomes]
rs6438005	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66499316	0.86[EUR][1000 genomes]
rs6762439	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6763624	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6768626	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6777990	0.86[EUR][1000 genomes]
rs6780845	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs6782894	1.00[CEU][hapmap]
rs6786443	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6791845	1.00[CEU][hapmap]
rs6804906	0.88[EUR][1000 genomes]
rs6807045	0.89[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs68097220	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7632963	0.88[EUR][1000 genomes]
rs7633037	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7637178	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs7640556	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7641533	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9288929	0.88[EUR][1000 genomes]
rs9631450	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9850851	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9968124	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591290	chr3:111427455-111462570	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111410200-111433200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:111410600-111443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:111415200-111454200	Weak transcription	Small Intestine	intestine
4	chr3:111415600-111436000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:111415600-111436400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:111418200-111442000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:111419000-111436000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:111419000-111436200	Weak transcription	Stomach Mucosa	stomach
9	chr3:111420400-111450600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:111420600-111445600	Weak transcription	HepG2	liver
11	chr3:111421400-111434600	Weak transcription	A549	lung
12	chr3:111422000-111433400	Weak transcription	HSMMtube	muscle
13	chr3:111423200-111434600	Weak transcription	HUVEC	blood vessel
14	chr3:111424600-111441800	Weak transcription	Thymus	Thymus
15	chr3:111425800-111441200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:111425800-111443800	Weak transcription	Dnd41	blood
17	chr3:111426800-111436400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:111427000-111442400	Weak transcription	Ovary	ovary
19	chr3:111427200-111448400	Weak transcription	Right Ventricle	heart
20	chr3:111427400-111433200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:111427400-111434800	Weak transcription	Aorta	Aorta
22	chr3:111427600-111456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:111428600-111433000	Weak transcription	Placenta	Placenta
24	chr3:111428800-111434600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:111428800-111445200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:111428800-111451200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:111429000-111441000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:111429200-111433000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:111429400-111446800	Weak transcription	Fetal Intestine Large	intestine
30	chr3:111429600-111442400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:111430600-111433600	Strong transcription	Fetal Intestine Small	intestine
32	chr3:111430600-111435600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:111430600-111436600	Strong transcription	Primary T cells from cord blood	blood
34	chr3:111431400-111433000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:111431400-111433000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:111431400-111433200	Weak transcription	HMEC	breast
37	chr3:111431400-111441600	Weak transcription	Fetal Stomach	stomach
38	chr3:111431600-111435000	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:111431600-111439600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:111431600-111440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:111431600-111443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:111431600-111443800	Weak transcription	Fetal Brain Female	brain
43	chr3:111431600-111451400	Weak transcription	Gastric	stomach
44	chr3:111431800-111433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:111431800-111433600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:111431800-111435600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:111431800-111436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:111431800-111436400	Weak transcription	Fetal Kidney	kidney
49	chr3:111431800-111436400	Weak transcription	NH-A	brain
50	chr3:111432000-111433000	Weak transcription	Muscle Satellite Cultured Cells	--

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