Variant report

Variant	rs12819309
Chromosome Location	chr12:105632499-105632500
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105500608..105502385-chr12:105631430..105634044,2	K562	blood:
2	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
3	chr12:105631933..105633893-chr12:105636355..105638544,2	K562	blood:
4	chr12:105628535..105631470-chr12:105631945..105633798,3	K562	blood:
5	chr12:105529161..105531125-chr12:105630136..105632646,2	K562	blood:
6	chr12:105632034..105634612-chr12:105649228..105651077,2	MCF-7	breast:
7	chr12:105628928..105631591-chr12:105632421..105636831,6	MCF-7	breast:
8	chr12:105630089..105632839-chr12:105665320..105668612,3	MCF-7	breast:
9	chr12:105628535..105631488-chr12:105632035..105634749,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1014502	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10431460	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1057110	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1077896	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861359	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10861361	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10861363	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1109433	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112369	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112370	0.87[EUR][1000 genomes]
rs11112372	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11112375	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11112376	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11112379	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112388	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112409	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112412	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112415	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112416	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112423	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112433	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11831854	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11832489	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11834277	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12228093	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12228948	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12812433	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12815031	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1317955	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1373552	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1444611	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1470381	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2272495	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2293643	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2293644	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28549976	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34075890	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34983773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35462155	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35672903	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736628	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3794222	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3794223	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3794224	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3794227	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817607	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3829296	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4964125	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964128	0.82[ASN][1000 genomes]
rs4964334	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4964335	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4964336	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4964338	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4964339	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4964340	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4964342	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964347	0.81[ASN][1000 genomes]
rs56693261	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73179994	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7484699	0.81[ASN][1000 genomes]
rs7485364	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7487098	0.81[ASN][1000 genomes]
rs755604	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8015	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs881279	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9919746	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105630200-105633200	Weak transcription	Gastric	stomach
2	chr12:105630600-105633000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:105630600-105633600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:105630600-105633800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:105630600-105634000	Weak transcription	Primary B cells from cord blood	blood
6	chr12:105630800-105632800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:105630800-105632800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:105630800-105632800	Weak transcription	Osteobl	bone
9	chr12:105630800-105633000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105630800-105633000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:105630800-105633000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:105630800-105633000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:105630800-105633000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:105630800-105633400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:105630800-105633400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:105630800-105633600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:105630800-105633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:105630800-105633600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:105630800-105633600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:105630800-105633800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:105630800-105633800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:105630800-105633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:105630800-105633800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:105630800-105634200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:105630800-105634200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:105630800-105634400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:105630800-105639000	Weak transcription	Pancreas	Pancrea
28	chr12:105630800-105639000	Weak transcription	NHLF	lung
29	chr12:105631400-105632600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:105632200-105633800	Enhancers	HepG2	liver
31	chr12:105632400-105632600	Enhancers	Psoas Muscle	Psoas
32	chr12:105632400-105632800	Weak transcription	Stomach Mucosa	stomach
33	chr12:105632400-105638800	Weak transcription	NHDF-Ad	bronchial

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