Variant report

Variant	rs11112409
Chromosome Location	chr12:105596774-105596775
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105587133..105589303-chr12:105595164..105597360,2	MCF-7	breast:
2	chr12:105592344..105594615-chr12:105595221..105597389,2	MCF-7	breast:
3	chr12:105589883..105591833-chr12:105596630..105599143,3	K562	blood:
4	chr12:105596266..105598085-chr12:105600191..105602690,2	K562	blood:
5	chr12:105596446..105601745-chr12:105601750..105606856,8	MCF-7	breast:
6	chr12:105592769..105599626-chr12:105599908..105606799,7	MCF-7	breast:
7	chr12:105595599..105598152-chr12:105628448..105630073,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction
ENSG00000136044	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];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10431460	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1057110	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1077896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861359	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861361	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861363	0.92[AFR][1000 genomes]
rs1109433	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11112369	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112370	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112372	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112375	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112376	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112379	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112388	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112412	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112415	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112416	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112421	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112423	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11112432	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112433	0.95[AFR][1000 genomes]
rs11831854	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11832489	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834277	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12228093	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12228948	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12812433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815031	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12819309	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12830078	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1317955	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1373552	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1444611	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1470381	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2272495	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293644	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2464176	0.81[ASN][1000 genomes]
rs28549976	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34075890	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34983773	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35462155	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35672903	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736628	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794222	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3794223	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3794224	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3794227	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3817607	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3829296	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4964125	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4964334	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4964335	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964336	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964338	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4964339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964342	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55908437	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56693261	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73179994	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7485364	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs755604	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8015	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs881279	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9919746	0.83[AMR][1000 genomes];0.95[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:126 , 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	chr12:105561400-105598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:105571400-105617800	Weak transcription	K562	blood
5	chr12:105576400-105606000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:105577000-105607200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:105577800-105598600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:105577800-105598800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105577800-105599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:105577800-105602600	Strong transcription	Fetal Thymus	thymus
12	chr12:105577800-105603600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:105577800-105605400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:105577800-105605600	Strong transcription	Primary B cells from cord blood	blood
15	chr12:105577800-105607400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:105578000-105599200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr12:105578000-105607400	Strong transcription	Fetal Brain Female	brain
18	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:105578200-105620000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:105578400-105602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:105579000-105598600	Strong transcription	HSMM	muscle
22	chr12:105579000-105605200	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:105579000-105612400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr12:105580200-105613200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:105581200-105602600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:105581200-105605400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:105581800-105602600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:105581800-105605200	Strong transcription	Brain Germinal Matrix	brain
29	chr12:105582000-105600200	Strong transcription	Fetal Stomach	stomach
30	chr12:105582000-105602600	Strong transcription	Lung	lung
31	chr12:105582000-105603400	Strong transcription	Spleen	Spleen
32	chr12:105582800-105598200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:105582800-105602600	Strong transcription	Thymus	Thymus
34	chr12:105583600-105602600	Strong transcription	Esophagus	oesophagus
35	chr12:105583600-105605600	Strong transcription	Right Ventricle	heart
36	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:105584400-105600200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:105585400-105603400	Strong transcription	HSMMtube	muscle
39	chr12:105585600-105598400	Strong transcription	NHDF-Ad	bronchial
40	chr12:105587400-105598400	Weak transcription	Stomach Mucosa	stomach
41	chr12:105587400-105609000	Weak transcription	Fetal Brain Male	brain
42	chr12:105587800-105598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:105588000-105598600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:105589000-105600400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:105589000-105600400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:105589200-105597600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:105589200-105601000	Weak transcription	Hela-S3	cervix
48	chr12:105589200-105612200	Weak transcription	Psoas Muscle	Psoas
49	chr12:105589400-105597000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:105589400-105608600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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