Variant report

Variant	rs17545329
Chromosome Location	chr2:67639135-67639136
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67632031..67634480-chr2:67638305..67640066,2	K562	blood:
2	chr2:67625062..67626828-chr2:67638770..67641070,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10496153	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1063571	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12185591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12185702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988210	0.82[AMR][1000 genomes]
rs12991090	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12996359	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13000557	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13004747	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13004765	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13009070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13015319	0.82[AMR][1000 genomes]
rs13015349	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13016330	0.82[AMR][1000 genomes]
rs13017696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018894	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13026513	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13030037	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030211	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13034744	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13035051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13035754	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13036061	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1521051	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17544516	0.82[AMR][1000 genomes]
rs17544551	0.82[AMR][1000 genomes]
rs17545245	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17545301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17603914	0.82[AMR][1000 genomes]
rs2171176	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34103917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34274370	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34281542	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34298852	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34418651	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34493710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34547630	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34636997	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34737312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34920978	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34962808	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34997300	0.82[AMR][1000 genomes]
rs35002490	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35141978	0.82[AMR][1000 genomes]
rs35144434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35340993	0.82[AMR][1000 genomes]
rs35382600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35503819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35570926	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35607813	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35610403	0.82[AMR][1000 genomes]
rs35686078	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35777125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36098430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4428006	0.85[EUR][1000 genomes]
rs62154898	0.82[AMR][1000 genomes]
rs62154948	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154949	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154950	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154951	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154952	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62154957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62154958	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156688	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156693	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156696	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156698	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156703	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156756	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156757	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156758	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62158290	0.82[AMR][1000 genomes]
rs6741192	0.92[CEU][hapmap]
rs71411986	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71411987	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71411988	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7585807	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67625400-67639400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:67625400-67639400	Weak transcription	Psoas Muscle	Psoas
3	chr2:67625400-67639800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:67625400-67640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:67625400-67640200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:67625400-67640400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:67625400-67641200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:67625400-67641400	Weak transcription	HSMMtube	muscle
9	chr2:67625400-67643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:67625600-67639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:67625600-67639600	Weak transcription	Right Ventricle	heart
12	chr2:67625600-67639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:67625600-67641000	Weak transcription	Fetal Brain Male	brain
14	chr2:67626200-67639200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:67627600-67641200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:67628000-67640000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:67628000-67641800	Weak transcription	Aorta	Aorta
18	chr2:67628200-67641200	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:67628200-67641400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:67628400-67642000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:67628800-67639400	Weak transcription	NHEK	skin
22	chr2:67630000-67639200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:67631000-67640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:67631000-67640600	Weak transcription	NHLF	lung
25	chr2:67631600-67641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:67632000-67640400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:67632200-67639600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:67632400-67640400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:67633200-67640000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:67633200-67640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:67633200-67640200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:67633400-67640400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:67633400-67640800	Weak transcription	Hela-S3	cervix
34	chr2:67633400-67641000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:67633600-67639800	Weak transcription	HepG2	liver
36	chr2:67633600-67640000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:67633600-67640000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:67633600-67640000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:67633600-67640200	Weak transcription	Fetal Thymus	thymus
40	chr2:67633600-67640600	Weak transcription	Fetal Heart	heart
41	chr2:67634800-67639200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:67634800-67640000	Weak transcription	Ovary	ovary
43	chr2:67634800-67640400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:67635400-67640400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:67635800-67639200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:67636000-67639200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:67636400-67639200	Strong transcription	Dnd41	blood
48	chr2:67636800-67639200	Strong transcription	Liver	Liver
49	chr2:67637000-67639200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:67637000-67639400	Strong transcription	Osteobl	bone

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