Variant report

Variant	rs1814518
Chromosome Location	chr15:42873672-42873673
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	chr15:42866660..42868750-chr15:42872207..42873779,2	K562	blood:
2	chr15:42866281..42869584-chr15:42871180..42873707,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC57-3	chr15:42873354-42873686	NONHSAT042022

Variant related genes	Relation type
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11070376	0.81[EUR][1000 genomes]
rs11631193	0.88[ASN][1000 genomes]
rs11632169	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1197545	0.85[AMR][1000 genomes]
rs1197546	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1197547	0.92[ASN][1000 genomes]
rs1211642	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12903416	0.90[ASN][1000 genomes]
rs12904010	0.81[EUR][1000 genomes]
rs1667493	0.94[ASN][1000 genomes]
rs1705360	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241998	0.85[ASN][1000 genomes]
rs4447398	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4923949	0.87[ASN][1000 genomes]
rs565298	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493053	0.82[ASN][1000 genomes]
rs6493054	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7168835	0.89[ASN][1000 genomes]
rs876992	0.83[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
2	chr15:42873000-42874400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:42873200-42873800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr15:42873200-42873800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:42873200-42873800	Flanking Active TSS	Liver	Liver
6	chr15:42873200-42874000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:42873200-42874000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr15:42873200-42874000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:42873200-42874000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:42873200-42874000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr15:42873200-42874000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr15:42873200-42874000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr15:42873200-42874000	Active TSS	Brain Anterior Caudate	brain
14	chr15:42873200-42874000	Active TSS	Brain Cingulate Gyrus	brain
15	chr15:42873200-42874000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:42873200-42874000	Active TSS	Ovary	ovary
17	chr15:42873200-42874000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr15:42873200-42874000	Active TSS	Thymus	Thymus
19	chr15:42873200-42874000	Active TSS	GM12878-XiMat	blood
20	chr15:42873200-42874000	Active TSS	NHEK	skin
21	chr15:42873200-42874200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr15:42873200-42874200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr15:42873200-42874200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr15:42873200-42874200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr15:42873200-42874200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:42873200-42874200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr15:42873200-42874200	Flanking Active TSS	Dnd41	blood
28	chr15:42873200-42874200	Flanking Active TSS	HepG2	liver
29	chr15:42873200-42874400	Enhancers	Fetal Brain Male	brain
30	chr15:42873200-42874400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr15:42873400-42873800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:42873400-42873800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:42873400-42873800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:42873400-42873800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:42873400-42873800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:42873400-42873800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
37	chr15:42873400-42873800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:42873400-42873800	Active TSS	Aorta	Aorta
39	chr15:42873400-42873800	Active TSS	Colonic Mucosa	Colon
40	chr15:42873400-42873800	Active TSS	Esophagus	oesophagus
41	chr15:42873400-42873800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr15:42873400-42873800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr15:42873400-42873800	Flanking Active TSS	Fetal Lung	lung
44	chr15:42873400-42873800	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr15:42873400-42873800	Flanking Active TSS	Placenta	Placenta
46	chr15:42873400-42873800	Flanking Active TSS	Gastric	stomach
47	chr15:42873400-42873800	Flanking Active TSS	Left Ventricle	heart
48	chr15:42873400-42873800	Active TSS	Pancreas	Pancrea
49	chr15:42873400-42873800	Active TSS	HSMM	muscle
50	chr15:42873400-42874000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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