Variant report

Variant	rs11111993
Chromosome Location	chr12:104716261-104716262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104710762..104713406-chr12:104715315..104718073,2	K562	blood:
2	chr12:104714067..104716870-chr12:104718571..104721290,2	K562	blood:
3	chr12:104710591..104713638-chr12:104713688..104716815,3	K562	blood:
4	chr12:104714658..104717606-chr12:104724030..104726701,2	K562	blood:
5	chr12:104711394..104714137-chr12:104716181..104719163,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10047589	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10778322	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861186	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861200	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11610799	0.92[ASN][1000 genomes]
rs11611385	0.90[ASN][1000 genomes]
rs34015677	0.92[ASN][1000 genomes]
rs34615738	0.92[ASN][1000 genomes]
rs34621285	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35359688	0.90[ASN][1000 genomes]
rs4411337	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4564401	0.92[ASN][1000 genomes]
rs4964287	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7138318	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294412	0.92[ASN][1000 genomes]
rs7300638	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73180130	0.90[ASN][1000 genomes]
rs73181910	0.86[ASN][1000 genomes]
rs73181913	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104698400-104716600	Strong transcription	HSMM	muscle
3	chr12:104698400-104718400	Weak transcription	Stomach Mucosa	stomach
4	chr12:104698400-104720600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104699400-104728400	Weak transcription	Fetal Heart	heart
7	chr12:104701000-104724400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:104701600-104733600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:104702000-104733600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:104702400-104746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:104702400-104747400	Strong transcription	Dnd41	blood
12	chr12:104702600-104716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104703000-104716400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:104703000-104716600	Strong transcription	Fetal Thymus	thymus
15	chr12:104703000-104716800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:104703000-104722400	Strong transcription	K562	blood
17	chr12:104703000-104749200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:104703400-104716800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:104703400-104738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:104703400-104747800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:104703600-104724200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:104703600-104744000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:104703800-104733000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:104704400-104743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:104704600-104716600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:104704600-104716600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr12:104704600-104716800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:104704600-104724200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:104704800-104716400	Strong transcription	Primary T cells from cord blood	blood
30	chr12:104704800-104716400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr12:104704800-104726400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:104704800-104747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:104705000-104716400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:104705000-104716600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:104705000-104716600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:104705000-104716600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:104705000-104716600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:104705000-104716600	Strong transcription	HSMMtube	muscle
39	chr12:104705000-104723800	Strong transcription	Fetal Intestine Large	intestine
40	chr12:104705000-104724200	Strong transcription	Adipose Nuclei	Adipose
41	chr12:104705000-104726000	Strong transcription	Placenta	Placenta
42	chr12:104705000-104726400	Strong transcription	Liver	Liver
43	chr12:104705200-104716400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:104705400-104720600	Weak transcription	Pancreas	Pancrea
45	chr12:104705800-104716400	Strong transcription	Fetal Brain Female	brain
46	chr12:104705800-104716600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:104706200-104716400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:104708000-104716600	Strong transcription	NHDF-Ad	bronchial
49	chr12:104708400-104716400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr12:104708400-104720600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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