Variant report

Variant	rs11057215
Chromosome Location	chr12:123746795-123746796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123746790-123746811	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123717253..123719001-chr12:123746538..123748497,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf65-1	chr12:123746607-123746949	ENSG00000269980.1

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

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

rSNPs within LD-proxies of this variant (count:21)

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]
rs11057213	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]
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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123734600-123753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:123735200-123751800	Strong transcription	Fetal Stomach	stomach
3	chr12:123735600-123752400	Strong transcription	Thymus	Thymus
4	chr12:123736000-123747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:123736000-123748000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:123736000-123752200	Strong transcription	Dnd41	blood
7	chr12:123736200-123751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:123736400-123750600	Strong transcription	Fetal Lung	lung
9	chr12:123736400-123752200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:123736400-123752600	Strong transcription	NHLF	lung
11	chr12:123737000-123753000	Strong transcription	Fetal Intestine Small	intestine
12	chr12:123737200-123752000	Strong transcription	A549	lung
13	chr12:123737400-123749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123737800-123746800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:123738000-123748200	Strong transcription	Primary T cells from cord blood	blood
16	chr12:123738000-123749200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr12:123738000-123749200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:123738000-123749600	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:123738000-123749600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:123738000-123750400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:123738000-123751000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:123738000-123751200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:123738000-123751800	Strong transcription	Liver	Liver
24	chr12:123738000-123751800	Strong transcription	Fetal Intestine Large	intestine
25	chr12:123738000-123752000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:123738000-123752000	Strong transcription	HUVEC	blood vessel
27	chr12:123738000-123752600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:123738000-123752800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr12:123738200-123748400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr12:123738200-123751800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:123738200-123752000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:123738400-123748400	Strong transcription	NH-A	brain
33	chr12:123738600-123752200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:123738800-123749800	Strong transcription	HSMMtube	muscle
35	chr12:123739000-123748600	Strong transcription	HSMM	muscle
36	chr12:123739000-123749400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:123739000-123751600	Strong transcription	Placenta	Placenta
38	chr12:123739200-123747000	Strong transcription	NHDF-Ad	bronchial
39	chr12:123739200-123748400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:123739200-123751800	Strong transcription	Adipose Nuclei	Adipose
41	chr12:123739200-123752600	Weak transcription	Psoas Muscle	Psoas
42	chr12:123739200-123753000	Weak transcription	Right Atrium	heart
43	chr12:123739200-123753200	Weak transcription	Fetal Heart	heart
44	chr12:123739200-123754200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:123739400-123751800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr12:123739800-123747400	Strong transcription	Brain Anterior Caudate	brain
47	chr12:123739800-123748200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:123739800-123748400	Strong transcription	Brain Hippocampus Middle	brain
49	chr12:123739800-123749400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:123739800-123751400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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