Variant report

Variant	rs17391761
Chromosome Location	chr3:43123896-43123897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1072822	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12233614	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12485530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485578	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12487785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497602	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523125	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1523126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1566422	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17470089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1949583	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1949584	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs488069	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55764298	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819365	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55945909	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55954171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772252	0.85[YRI][hapmap]
rs6785292	0.85[YRI][hapmap]
rs6796161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796406	0.85[YRI][hapmap]
rs73074962	0.80[EUR][1000 genomes]
rs7636537	0.85[YRI][hapmap]
rs7638387	0.85[YRI][hapmap]
rs7640990	1.00[YRI][hapmap]

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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422802	chr3:43121498-43124296	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43118200-43124800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:43118200-43128000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:43118400-43124400	Strong transcription	Fetal Muscle Leg	muscle
4	chr3:43118600-43124000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:43118600-43127800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:43118800-43124200	Strong transcription	Fetal Brain Female	brain
7	chr3:43119000-43124400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:43119000-43129600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:43119200-43124200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:43119400-43124000	Strong transcription	Primary T cells from cord blood	blood
11	chr3:43119400-43126200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:43119400-43129800	Weak transcription	Fetal Kidney	kidney
13	chr3:43119600-43124200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:43119600-43124400	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:43119600-43124600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr3:43119600-43130400	Weak transcription	Hela-S3	cervix
17	chr3:43119600-43135000	Weak transcription	Psoas Muscle	Psoas
18	chr3:43119800-43143800	Weak transcription	Fetal Heart	heart
19	chr3:43120000-43125000	Strong transcription	Left Ventricle	heart
20	chr3:43120000-43125800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:43120200-43124000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:43120200-43124800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:43120400-43125600	Weak transcription	A549	lung
24	chr3:43120600-43124400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:43120800-43124400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:43120800-43124400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:43121000-43124000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr3:43121000-43124200	Strong transcription	Ovary	ovary
29	chr3:43121000-43124600	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr3:43121000-43124600	ZNF genes & repeats	Thymus	Thymus
31	chr3:43121200-43124400	ZNF genes & repeats	Aorta	Aorta
32	chr3:43121800-43125000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:43122000-43126000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr3:43122400-43124000	Weak transcription	NHLF	lung
35	chr3:43122400-43134400	Weak transcription	HepG2	liver
36	chr3:43122400-43145800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:43122600-43124200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:43122600-43124600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr3:43122600-43124800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:43122600-43124800	ZNF genes & repeats	Dnd41	blood
41	chr3:43122600-43124800	Weak transcription	HMEC	breast
42	chr3:43122600-43128200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:43122600-43130200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:43122600-43145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:43122800-43124000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:43122800-43124000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:43122800-43124600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:43122800-43125600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:43122800-43127800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:43122800-43128600	Weak transcription	Liver	Liver

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