Variant report

Variant	rs7185880
Chromosome Location	chr16:75469150-75469151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
2	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
3	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
4	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
5	chr16:75284336..75286423-chr16:75467172..75469281,2	K562	blood:
6	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
7	chr16:75468270..75471341-chr16:75474045..75476469,3	K562	blood:
8	chr16:75467452..75469743-chr16:75480979..75483108,3	K562	blood:
9	chr16:75466586..75469509-chr16:75679295..75683235,4	K562	blood:
10	chr16:75467998..75470976-chr16:75484514..75486577,2	MCF-7	breast:
11	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000065457	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000261717	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10438605	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11149817	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149472	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12149940	0.93[ASN][1000 genomes]
rs12444789	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12445803	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12716785	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12918234	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12919055	0.82[ASN][1000 genomes]
rs12921808	0.93[ASN][1000 genomes]
rs12926447	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12928461	0.81[EUR][1000 genomes]
rs12935491	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13337069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339257	0.89[ASN][1000 genomes]
rs17605695	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17674216	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2285221	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2550325	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2550916	0.93[ASN][1000 genomes]
rs2650408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2650409	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28368934	0.83[ASN][1000 genomes]
rs28371085	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28510780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525459	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532060	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4081763	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4383172	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55715607	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55719515	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59800961	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60544814	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6625	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71380715	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7184596	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186825	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188111	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7189037	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7206589	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7206780	1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8046261	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047983	0.85[ASN][1000 genomes]
rs8048683	0.93[ASN][1000 genomes]
rs8050367	0.82[ASN][1000 genomes]
rs8051151	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8051238	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8052405	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8052555	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8054557	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8055098	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8056345	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8056473	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8057652	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057925	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8059427	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8059883	1.00[ASN][1000 genomes]
rs8060338	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8063733	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9319483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9319484	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9745455	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921115	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921330	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9923034	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9923465	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9923574	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9924524	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9926453	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9926933	1.00[ASN][1000 genomes]
rs9927330	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9928744	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs9928901	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs9930002	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9932982	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9935954	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9935967	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9936641	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9936648	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9936853	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937903	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9938936	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9939080	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9939587	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9940189	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9940884	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9941142	0.93[ASN][1000 genomes]
rs9972714	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	esv32560	chr16:75465765-75471455	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv516019	chr16:75466696-75473332	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv521596	chr16:75466696-75486648	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7185880	RP11-252K23.2	cis	Adipose Subcutaneous	GTEx
rs7185880	RP11-252K23.2	cis	Esophagus Muscularis	GTEx
rs7185880	RP11-252K23.2	cis	Nerve Tibial	GTEx
rs7185880	RP11-252K23.2	cis	Artery Tibial	GTEx
rs7185880	RP11-252K23.2	cis	lung	GTEx
rs7185880	CFDP1	cis	uninvolved skin	skin_eQTL
rs7185880	RP11-252K23.2	cis	Thyroid	GTEx
rs7185880	RP11-252K23.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75466400-75469200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:75466800-75469200	Active TSS	A549	lung
3	chr16:75468400-75469400	Enhancers	Spleen	Spleen
4	chr16:75468400-75482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:75468400-75482600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:75468400-75489400	Weak transcription	Small Intestine	intestine
7	chr16:75468600-75469400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:75468600-75469400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:75468600-75469600	Enhancers	Fetal Heart	heart
10	chr16:75468600-75476800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:75468600-75481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:75468600-75481600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:75468600-75482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:75468600-75487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:75468600-75489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:75468800-75469200	Weak transcription	Brain Angular Gyrus	brain
17	chr16:75468800-75469200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:75468800-75469200	Weak transcription	Psoas Muscle	Psoas
19	chr16:75468800-75469200	Weak transcription	Right Ventricle	heart
20	chr16:75468800-75469200	Enhancers	HMEC	breast
21	chr16:75468800-75469200	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr16:75468800-75469400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:75468800-75469400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr16:75468800-75469400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:75468800-75469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:75468800-75469400	Active TSS	Liver	Liver
27	chr16:75468800-75469400	Enhancers	Brain Hippocampus Middle	brain
28	chr16:75468800-75469400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:75468800-75469400	Enhancers	Colonic Mucosa	Colon
30	chr16:75468800-75469400	Enhancers	Fetal Brain Female	brain
31	chr16:75468800-75469400	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr16:75468800-75469400	Enhancers	HepG2	liver
33	chr16:75468800-75469400	Enhancers	K562	blood
34	chr16:75468800-75470000	Enhancers	Dnd41	blood
35	chr16:75468800-75476000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:75468800-75478800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr16:75468800-75479000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr16:75468800-75479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:75468800-75479200	Weak transcription	Left Ventricle	heart
40	chr16:75468800-75479400	Weak transcription	Fetal Intestine Large	intestine
41	chr16:75468800-75480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr16:75468800-75480400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:75468800-75480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:75468800-75480600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:75468800-75480600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:75468800-75480600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:75468800-75480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr16:75468800-75481000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:75468800-75481000	Weak transcription	Primary T cells from cord blood	blood
50	chr16:75468800-75481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links