Variant report

Variant	rs12528811
Chromosome Location	chr6:5787400-5787401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1108303	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1108304	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1125513	0.89[ASN][1000 genomes]
rs11969052	0.85[JPT][hapmap]
rs13437141	0.85[EUR][1000 genomes]
rs17141268	0.87[ASN][1000 genomes]
rs17141289	0.89[ASN][1000 genomes]
rs17141291	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17145862	0.93[ASN][1000 genomes]
rs1815271	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4291133	0.83[CHB][hapmap]
rs4959356	0.99[ASN][1000 genomes]
rs4960132	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4960134	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4960135	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4960136	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4960137	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4960138	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55864325	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55991338	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56061157	0.85[EUR][1000 genomes]
rs60232193	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60475061	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60532879	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60625891	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6597163	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6910357	0.90[ASN][1000 genomes]
rs6914171	0.90[ASN][1000 genomes]
rs6917712	0.87[EUR][1000 genomes]
rs6919521	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6941313	0.90[ASN][1000 genomes]
rs72821941	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7760017	0.81[TSI][hapmap]
rs7766672	0.83[EUR][1000 genomes]
rs9504511	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518398	chr6:5777546-5787400	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv970669	chr6:5783028-5791204	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12528811	SSR1	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5774400-5787400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:5781600-5788000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:5782200-5788200	Enhancers	Fetal Thymus	thymus
4	chr6:5782600-5787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:5783600-5787400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:5783800-5794600	Weak transcription	Psoas Muscle	Psoas
7	chr6:5784200-5787600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:5785800-5787400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:5786000-5787400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:5786000-5787400	Enhancers	NHEK	skin
11	chr6:5786000-5787600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:5786000-5787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:5786000-5787800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:5786400-5787600	Enhancers	Brain Germinal Matrix	brain
15	chr6:5786400-5787800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:5786600-5787400	Enhancers	Fetal Brain Female	brain
17	chr6:5786600-5787800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:5786600-5788000	Enhancers	Primary T cells from cord blood	blood
19	chr6:5786800-5787600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:5786800-5787800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:5786800-5787800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:5786800-5788000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:5786800-5788000	Enhancers	Dnd41	blood
24	chr6:5787000-5787600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:5787000-5787800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:5787000-5787800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:5787000-5787800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:5787000-5787800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr6:5787000-5788000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:5787000-5788000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr6:5787000-5788000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:5787000-5789200	Enhancers	Fetal Muscle Leg	muscle
33	chr6:5787200-5787600	Enhancers	Primary B cells from cord blood	blood
34	chr6:5787200-5788000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:5787200-5788000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:5787400-5787800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:5787400-5788000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:5787400-5793000	Weak transcription	Fetal Brain Female	brain

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