Variant report

Variant	rs28478378
Chromosome Location	chr18:29664009-29664010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29662644..29667608-chr18:29668028..29673014,9	K562	blood:
2	chr18:29661516..29666367-chr18:29670429..29672911,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134758	Chromatin interaction
ENSG00000265008	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28376309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28429168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28464735	1.00[AMR][1000 genomes]
rs28505817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28538314	1.00[AMR][1000 genomes]
rs28556958	1.00[AMR][1000 genomes]
rs28596473	1.00[AMR][1000 genomes]
rs28727388	1.00[AMR][1000 genomes]
rs28822754	1.00[AMR][1000 genomes]
rs7239030	1.00[AMR][1000 genomes]
rs73413957	1.00[AMR][1000 genomes]
rs73413961	1.00[AMR][1000 genomes]
rs9949793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9954827	1.00[AMR][1000 genomes]
rs9954966	1.00[AMR][1000 genomes]
rs9963611	1.00[AMR][1000 genomes]
rs9967305	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv909520	chr18:29645496-29666127	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:29630000-29664400	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:29630400-29664400	Weak transcription	Left Ventricle	heart
4	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
5	chr18:29640400-29664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr18:29640400-29664600	Weak transcription	Thymus	Thymus
7	chr18:29640600-29664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:29642600-29664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:29644000-29664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:29647000-29664400	Weak transcription	Liver	Liver
11	chr18:29648400-29664200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:29648400-29664400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr18:29648600-29664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr18:29649000-29664200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr18:29654200-29664200	Weak transcription	Primary B cells from cord blood	blood
16	chr18:29654400-29664400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr18:29654400-29664400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:29654600-29664400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr18:29655400-29664200	Weak transcription	Primary T cells from cord blood	blood
20	chr18:29656000-29671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:29656200-29664400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr18:29658600-29664600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:29659600-29664400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr18:29660800-29664400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr18:29661000-29664200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:29661600-29664200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr18:29662800-29664400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr18:29662800-29665000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:29663000-29664400	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:29663000-29665000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:29663000-29665000	Enhancers	Adipose Nuclei	Adipose
32	chr18:29663200-29664800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr18:29663400-29665000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr18:29663600-29664400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:29663600-29664800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:29663600-29665000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr18:29663800-29664200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:29663800-29665000	Enhancers	Primary hematopoietic stem cells	blood
39	chr18:29663800-29665000	Enhancers	HUVEC	blood vessel
40	chr18:29663800-29665200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr18:29663800-29671400	Weak transcription	Fetal Kidney	kidney
42	chr18:29664000-29665000	Enhancers	Primary T cells fromperipheralblood	blood

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