Variant report

Variant	rs12326443
Chromosome Location	chr18:29671245-29671246
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29521939..29525237-chr18:29670716..29673913,4	MCF-7	breast:
2	chr18:29596689..29599956-chr18:29670764..29674475,6	MCF-7	breast:
3	chr18:29670755..29674701-chr18:29702072..29706406,4	K562	blood:
4	chr18:29637884..29642506-chr18:29670649..29674281,4	K562	blood:
5	chr18:29597506..29599866-chr18:29670953..29673378,4	MCF-7	breast:
6	chr18:29521618..29525019-chr18:29670361..29672184,4	MCF-7	breast:
7	chr18:29654269..29657288-chr18:29670351..29673351,3	K562	blood:
8	chr18:29521537..29525393-chr18:29670839..29674328,7	K562	blood:
9	chr18:29520857..29524705-chr18:29670705..29674434,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263823	Chromatin interaction
ENSG00000134758	Chromatin interaction
ENSG00000263393	Chromatin interaction
ENSG00000153339	Chromatin interaction
ENSG00000263917	Chromatin interaction
ENSG00000214917	Chromatin interaction
ENSG00000101695	Chromatin interaction
ENSG00000265063	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16962700	0.80[EUR][1000 genomes]
rs59911054	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61709171	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72940728	0.84[EUR][1000 genomes]
rs72940731	0.83[EUR][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	esv2757673	chr18:29632749-29674992	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2758719	chr18:29632749-29674992	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv909521	chr18:29645496-29671510	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv909522	chr18:29645496-29674992	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv909523	chr18:29645496-29679922	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1055457	chr18:29654978-29677371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
2	chr18:29656000-29671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29663800-29671400	Weak transcription	Fetal Kidney	kidney
4	chr18:29664400-29671400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:29664600-29671600	Weak transcription	Left Ventricle	heart
6	chr18:29665200-29671400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:29665200-29671800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:29665400-29671400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:29665600-29671400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:29665600-29671400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:29666000-29671400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:29666000-29671400	Weak transcription	NHDF-Ad	bronchial
13	chr18:29666200-29671400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr18:29666200-29671400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:29666200-29671400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr18:29666400-29671400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:29666400-29671400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:29666400-29671400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:29666400-29671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr18:29666400-29671400	Weak transcription	Adipose Nuclei	Adipose
21	chr18:29666400-29671400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr18:29666400-29671400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr18:29666400-29671400	Weak transcription	Thymus	Thymus
24	chr18:29666400-29671400	Weak transcription	Dnd41	blood
25	chr18:29666600-29671400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr18:29666600-29671400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr18:29666600-29671400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr18:29666600-29671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr18:29667000-29671400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:29667200-29671400	Weak transcription	NHLF	lung
31	chr18:29667200-29671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:29667200-29671600	Weak transcription	Stomach Mucosa	stomach
33	chr18:29667400-29671400	Weak transcription	Osteobl	bone
34	chr18:29667600-29671400	Weak transcription	HMEC	breast
35	chr18:29667600-29671400	Weak transcription	NH-A	brain
36	chr18:29667600-29671400	Weak transcription	NHEK	skin
37	chr18:29667600-29671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:29667800-29671400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:29668200-29671400	Weak transcription	Primary T cells from cord blood	blood
40	chr18:29670000-29671400	Weak transcription	Fetal Lung	lung
41	chr18:29670600-29671400	Enhancers	HepG2	liver
42	chr18:29670800-29671400	Enhancers	Primary B cells from cord blood	blood
43	chr18:29670800-29671400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr18:29670800-29671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:29670800-29671400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:29671000-29671400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:29671000-29671400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr18:29671000-29671400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr18:29671000-29671400	Enhancers	Primary hematopoietic stem cells	blood
50	chr18:29671000-29671400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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