Variant report

Variant	rs11057213
Chromosome Location	chr12:123737826-123737827
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:8)
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	POLR2A	chr12:123737655-123738913	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
2	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
3	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
4	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
5	chr12:123735647..123738456-chr12:123742871..123745926,3	K562	blood:
6	chr12:123736848..123739836-chr12:123749677..123753155,4	K562	blood:
7	chr12:123735701..123738592-chr12:123744837..123746422,2	MCF-7	breast:
8	chr12:123733838..123737944-chr12:123742344..123746385,6	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf65	TF binding region
ENSG00000111328	Chromatin interaction
ENSG00000235423	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11057167	1.00[AFR][1000 genomes]
rs11057171	1.00[AFR][1000 genomes]
rs11057173	1.00[AFR][1000 genomes]
rs11057182	1.00[AFR][1000 genomes]
rs11057186	1.00[AFR][1000 genomes]
rs11057195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11057199	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11057215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057239	0.83[AMR][1000 genomes]
rs11057252	1.00[AFR][1000 genomes]
rs11057257	1.00[AFR][1000 genomes]
rs11061615	1.00[AFR][1000 genomes]
rs12146722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12368208	1.00[AFR][1000 genomes]
rs12368580	0.85[EUR][1000 genomes]
rs12371718	1.00[AFR][1000 genomes]
rs12372699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28553365	1.00[AFR][1000 genomes]
rs36004829	1.00[AFR][1000 genomes]
rs56104963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73231941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7486351	1.00[AFR][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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr12:123718800-123739600	Weak transcription	Fetal Kidney	kidney
2	chr12:123719600-123738400	Weak transcription	NH-A	brain
3	chr12:123720000-123738000	Weak transcription	Small Intestine	intestine
4	chr12:123725200-123738000	Weak transcription	HSMM	muscle
5	chr12:123725800-123746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:123727400-123738000	Weak transcription	NHDF-Ad	bronchial
7	chr12:123727400-123738200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:123727600-123738000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:123727600-123738000	Weak transcription	HUVEC	blood vessel
10	chr12:123727600-123739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:123727800-123738200	Weak transcription	Fetal Heart	heart
12	chr12:123732000-123738200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:123733400-123738000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:123733400-123738000	Weak transcription	Primary B cells from cord blood	blood
15	chr12:123733400-123745000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123733800-123738000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:123734000-123738400	Weak transcription	Osteobl	bone
18	chr12:123734200-123738400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:123734400-123738400	Weak transcription	Aorta	Aorta
20	chr12:123734400-123738600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:123734600-123753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:123735000-123738000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:123735000-123738600	Enhancers	Brain Hippocampus Middle	brain
24	chr12:123735000-123740400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:123735200-123738800	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:123735200-123739600	Enhancers	Fetal Brain Male	brain
27	chr12:123735200-123751800	Strong transcription	Fetal Stomach	stomach
28	chr12:123735400-123738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:123735400-123738000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:123735400-123738000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:123735400-123738000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:123735400-123739200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:123735400-123745400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:123735600-123738800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:123735600-123743400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:123735600-123752400	Strong transcription	Thymus	Thymus
37	chr12:123735800-123738000	Weak transcription	Primary T cells from cord blood	blood
38	chr12:123735800-123738000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:123735800-123738000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:123735800-123738000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:123735800-123738200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:123735800-123738200	Weak transcription	Left Ventricle	heart
43	chr12:123735800-123738200	Weak transcription	Ovary	ovary
44	chr12:123736000-123738000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:123736000-123738000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:123736000-123738800	Weak transcription	HSMMtube	muscle
47	chr12:123736000-123739400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:123736000-123739600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:123736000-123740600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:123736000-123745400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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