Variant report

Variant	rs1609868
Chromosome Location	chr16:71490293-71490294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
2	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:
3	chr16:71486185..71488004-chr16:71489030..71491841,2	K562	blood:

Variant related genes	Relation type
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10500558	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11640165	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641492	0.88[ASN][1000 genomes]
rs11643101	0.81[CHB][hapmap]
rs11643216	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644434	0.95[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs11645711	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11647749	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12446461	1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs13331346	0.87[ASN][1000 genomes]
rs1609869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16973266	0.85[AMR][1000 genomes]
rs2004672	0.86[ASN][1000 genomes]
rs2070832	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2288486	0.82[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288487	0.95[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288488	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2303788	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28372238	0.87[ASN][1000 genomes]
rs310334	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs35373081	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35916432	0.81[ASN][1000 genomes]
rs36063092	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3813743	0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4149498	0.89[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4503795	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4620964	0.84[ASN][1000 genomes]
rs58134724	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58452291	0.82[EUR][1000 genomes]
rs58719913	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499523	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7184543	0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7186241	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7187165	0.88[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7187354	0.88[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7188342	0.88[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7192986	0.82[ASN][1000 genomes]
rs7199026	0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7199373	0.89[ASN][1000 genomes]
rs7200335	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7200431	0.87[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7202662	0.95[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7202953	0.86[ASN][1000 genomes]
rs730470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs732318	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs74026831	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74027246	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8044068	0.86[ASN][1000 genomes]
rs8044561	0.88[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs8051212	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs8053662	0.88[ASN][1000 genomes]
rs8058294	0.88[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs8058776	0.90[ASN][1000 genomes]
rs8061078	0.83[CHB][hapmap]
rs9302623	0.90[ASN][1000 genomes]
rs9926110	0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs9928243	0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9933680	0.88[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs9935426	0.88[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs9936249	0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs9940771	0.89[CHB][hapmap];0.85[JPT][hapmap];0.84[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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71480600-71491000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr16:71481600-71490400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr16:71481600-71493000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:71481800-71491000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:71482000-71490600	ZNF genes & repeats	Ovary	ovary
6	chr16:71482000-71491000	ZNF genes & repeats	NHLF	lung
7	chr16:71482400-71490800	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr16:71482400-71490800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr16:71483400-71491200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:71483600-71490800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:71484600-71490800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:71484600-71494600	Weak transcription	HUVEC	blood vessel
13	chr16:71484600-71495200	Weak transcription	Fetal Heart	heart
14	chr16:71484600-71495400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:71484800-71490400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:71484800-71490400	Strong transcription	Placenta	Placenta
17	chr16:71484800-71490600	Strong transcription	Brain Angular Gyrus	brain
18	chr16:71484800-71490800	Strong transcription	HSMMtube	muscle
19	chr16:71485000-71490600	Strong transcription	Brain Cingulate Gyrus	brain
20	chr16:71485000-71490800	Strong transcription	Rectal Smooth Muscle	rectum
21	chr16:71485200-71490800	Strong transcription	Brain Substantia Nigra	brain
22	chr16:71485200-71490800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr16:71485400-71490400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr16:71485400-71490600	ZNF genes & repeats	Lung	lung
25	chr16:71485400-71490800	Strong transcription	Fetal Intestine Large	intestine
26	chr16:71485400-71491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:71485600-71490600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:71485600-71490600	Strong transcription	Right Ventricle	heart
29	chr16:71485600-71490800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:71485600-71490800	Strong transcription	Brain Anterior Caudate	brain
31	chr16:71486000-71490800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr16:71486000-71490800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr16:71486000-71490800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr16:71486000-71490800	Strong transcription	Gastric	stomach
35	chr16:71486200-71490400	Strong transcription	Osteobl	bone
36	chr16:71486200-71490600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr16:71486200-71490800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr16:71486400-71490800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:71486600-71490800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:71486600-71491000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:71486800-71490600	Strong transcription	Primary T cells from cord blood	blood
42	chr16:71486800-71490600	Strong transcription	A549	lung
43	chr16:71486800-71490800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:71486800-71490800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:71486800-71494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr16:71487000-71490600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr16:71487000-71490800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:71487000-71490800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr16:71487000-71491000	Strong transcription	NHDF-Ad	bronchial
50	chr16:71487200-71490600	Strong transcription	Rectal Mucosa Donor 31	rectum

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