Variant report

Variant	rs12812433
Chromosome Location	chr12:105606823-105606824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:105606195-105606874	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105606486..105608815-chr12:105609324..105611383,2	K562	blood:
2	chr12:105606787..105609967-chr12:105617120..105620044,3	MCF-7	breast:
3	chr12:105605767..105607700-chr12:105638996..105640802,2	MCF-7	breast:
4	chr12:105602998..105604968-chr12:105605214..105607629,2	MCF-7	breast:
5	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:

No data

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1014502	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10431460	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1057110	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1077896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861359	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861361	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861363	0.92[AFR][1000 genomes]
rs1109433	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112369	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112370	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112372	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112375	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112376	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112379	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112388	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112412	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112415	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112416	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112421	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112423	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112432	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112433	0.95[AFR][1000 genomes]
rs11831854	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11832489	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11834277	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12228093	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12228948	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12815031	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12819309	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12830078	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1317955	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1373552	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1444611	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1470381	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2272495	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293644	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2464176	0.80[ASN][1000 genomes]
rs28549976	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34075890	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34983773	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35462155	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35672903	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3736628	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3794222	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3794223	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3794224	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3794227	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3817607	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3829296	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4964125	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4964334	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4964335	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4964336	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4964338	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964342	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55908437	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56693261	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73179994	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7485364	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs755604	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8015	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs881279	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9919746	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:105571400-105617800	Weak transcription	K562	blood
4	chr12:105577000-105607200	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:105577800-105607400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr12:105578000-105607400	Strong transcription	Fetal Brain Female	brain
8	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:105578200-105620000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:105579000-105612400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr12:105580200-105613200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:105587400-105609000	Weak transcription	Fetal Brain Male	brain
14	chr12:105589200-105612200	Weak transcription	Psoas Muscle	Psoas
15	chr12:105589400-105608600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:105589400-105612400	Weak transcription	Fetal Heart	heart
17	chr12:105590200-105620000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:105590400-105618800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:105591000-105619400	Strong transcription	Primary T cells from cord blood	blood
20	chr12:105594400-105614400	Weak transcription	Small Intestine	intestine
21	chr12:105594600-105607200	Strong transcription	Fetal Intestine Large	intestine
22	chr12:105594600-105607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:105595000-105612800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:105595000-105618800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:105595200-105607800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:105595600-105612800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:105595800-105612000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:105595800-105612200	Weak transcription	Right Atrium	heart
29	chr12:105595800-105616600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr12:105596000-105617000	Strong transcription	Fetal Lung	lung
31	chr12:105596400-105621800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:105596600-105607600	Strong transcription	Liver	Liver
33	chr12:105597200-105607800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:105599400-105612400	Strong transcription	Brain Anterior Caudate	brain
35	chr12:105599800-105607200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:105599800-105610800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:105600600-105607000	Weak transcription	Stomach Mucosa	stomach
38	chr12:105600600-105608600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:105600800-105610000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:105601000-105612400	Strong transcription	Fetal Stomach	stomach
42	chr12:105601000-105615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:105601000-105619200	Weak transcription	GM12878-XiMat	blood
44	chr12:105601200-105610200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:105601200-105610400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:105601400-105610400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:105601400-105615800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:105601600-105608400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:105602000-105608000	Weak transcription	HepG2	liver
50	chr12:105602000-105608400	Weak transcription	Colon Smooth Muscle	Colon

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