Variant report

Variant	rs28822754
Chromosome Location	chr18:29602965-29602966
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	chr18:29597700..29599894-chr18:29602384..29604924,2	K562	blood:

Variant related genes	Relation type
ENSG00000101695	Chromatin interaction
ENSG00000263917	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28376309	1.00[AMR][1000 genomes]
rs28429168	1.00[AMR][1000 genomes]
rs28464735	1.00[AMR][1000 genomes]
rs28478378	1.00[AMR][1000 genomes]
rs28505817	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]
rs7239030	1.00[AMR][1000 genomes]
rs73413957	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413961	1.00[AMR][1000 genomes]
rs9949793	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:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29598000-29603200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:29600200-29603000	Weak transcription	Pancreas	Pancrea
4	chr18:29600200-29617200	Weak transcription	Lung	lung
5	chr18:29600400-29603000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr18:29600400-29603600	Enhancers	Fetal Intestine Large	intestine
7	chr18:29600400-29603600	Enhancers	Fetal Intestine Small	intestine
8	chr18:29600400-29605800	Weak transcription	Primary B cells from cord blood	blood
9	chr18:29600400-29606200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:29600400-29616800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:29600400-29617000	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:29600600-29603400	Weak transcription	Right Atrium	heart
13	chr18:29600600-29603800	Enhancers	Liver	Liver
14	chr18:29600600-29605600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr18:29600600-29605600	Weak transcription	GM12878-XiMat	blood
16	chr18:29600600-29616800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr18:29600600-29617000	Weak transcription	Left Ventricle	heart
18	chr18:29600600-29620400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
20	chr18:29600800-29603200	Enhancers	Small Intestine	intestine
21	chr18:29600800-29605400	Weak transcription	Thymus	Thymus
22	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:29601000-29603000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr18:29601000-29603600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr18:29601000-29603800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr18:29601000-29603800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr18:29601000-29605200	Weak transcription	Fetal Thymus	thymus
28	chr18:29601000-29606800	Weak transcription	Psoas Muscle	Psoas
29	chr18:29601600-29603200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr18:29601600-29605400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr18:29601800-29603000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr18:29601800-29603600	Enhancers	Brain Cingulate Gyrus	brain
33	chr18:29602000-29603200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr18:29602000-29603800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr18:29602000-29617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:29602200-29607200	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr18:29602400-29605600	Weak transcription	Adipose Nuclei	Adipose
38	chr18:29602400-29611000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr18:29602600-29603000	Enhancers	Brain Hippocampus Middle	brain
40	chr18:29602600-29603800	Enhancers	Duodenum Mucosa	Duodenum
41	chr18:29602600-29604600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:29602600-29605200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:29602600-29606400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:29602600-29606400	Weak transcription	Brain Anterior Caudate	brain
45	chr18:29602600-29610400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr18:29602600-29610400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr18:29602600-29617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr18:29602800-29603200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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