Variant report

Variant	rs12189300
Chromosome Location	chr5:94987683-94987684
allele	A/G
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	chr5:94986810-94989344	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:94981368..94988467-chr5:95046173..95051252,17	K562	blood:
2	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
3	chr5:94986771..94989176-chr5:94992934..94994549,2	MCF-7	breast:
4	chr5:94985857..94987927-chr5:95082839..95085135,3	K562	blood:
5	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
6	chr5:94890206..94891833-chr5:94987250..94989208,2	K562	blood:
7	chr5:94984590..94987808-chr5:95181177..95184579,4	K562	blood:
8	chr5:94985102..94989085-chr5:95082725..95085350,5	K562	blood:

No data

Variant related genes	Relation type
RFESD	TF binding region
ENSG00000164291	Chromatin interaction
ENSG00000198677	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11135439	1.00[CHB][hapmap]
rs17463444	1.00[CHB][hapmap]
rs17790719	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556889	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv598960	chr5:94975592-94988482	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-94988000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:94983400-94990200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
5	chr5:94983600-94988400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:94983600-94991000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:94983600-94991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:94983600-94991000	Weak transcription	Thymus	Thymus
9	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
14	chr5:94983800-94987800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:94983800-94988000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:94983800-94988400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:94983800-94990200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:94983800-94990200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:94983800-94991000	Weak transcription	Fetal Thymus	thymus
20	chr5:94983800-94991200	Weak transcription	Fetal Lung	lung
21	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
25	chr5:94984000-94987800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:94984000-94988000	Weak transcription	Primary B cells from cord blood	blood
27	chr5:94984200-94988600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:94984200-94990800	Weak transcription	Fetal Heart	heart
29	chr5:94984200-94991400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:94984200-94999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:94984200-94999800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:94984400-94988600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:94984600-94991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:94984600-94992600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:94984600-94999800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr5:94985200-94987800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:94985200-94988400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:94985200-94991000	Weak transcription	Dnd41	blood
40	chr5:94985400-94987800	Weak transcription	Primary T cells from cord blood	blood
41	chr5:94985400-94988600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:94985600-94988000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:94985800-94988400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:94987200-94988000	Transcr. at gene 5' and 3'	K562	blood
45	chr5:94987600-94987800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:94987600-94989200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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