Variant report

Variant	rs1791408
Chromosome Location	chr18:43730289-43730290
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	chr18:43721733..43724584-chr18:43729052..43731555,2	K562	blood:
2	chr18:43726567..43730324-chr18:43752654..43755153,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11663162	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11875115	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12604963	0.82[ASN][1000 genomes]
rs12605275	0.82[ASN][1000 genomes]
rs12605796	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12953780	0.86[ASN][1000 genomes]
rs12954967	0.84[ASN][1000 genomes]
rs12959827	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12965578	0.84[ASN][1000 genomes]
rs12970379	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612622	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1618124	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1620584	0.83[EUR][1000 genomes]
rs1620609	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1626506	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1632043	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1658904	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1658905	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1658906	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1658907	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1658908	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16978526	0.83[ASN][1000 genomes]
rs16978530	0.81[ASN][1000 genomes]
rs1791400	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791401	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791406	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1791407	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1791410	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791411	0.97[ASN][1000 genomes]
rs1791412	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791413	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791414	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791421	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2886001	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35029196	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35211836	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122010	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4274509	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4315430	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4316847	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6507665	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6507667	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6507669	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6507675	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7228642	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7230905	0.86[ASN][1000 genomes]
rs7234588	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7236687	0.80[ASN][1000 genomes]
rs7241983	0.86[ASN][1000 genomes]
rs7242845	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7506126	0.82[ASN][1000 genomes]
rs8089015	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8090410	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8096643	0.80[ASN][1000 genomes]
rs9954565	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9959526	0.83[ASN][1000 genomes]
rs9967229	0.84[ASN][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	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
3	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
4	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
5	chr18:43710000-43732000	Weak transcription	Right Ventricle	heart
6	chr18:43710400-43732400	Weak transcription	Lung	lung
7	chr18:43710400-43733000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
9	chr18:43710800-43732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr18:43711200-43732000	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:43712200-43732000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
14	chr18:43714000-43748400	Weak transcription	Ovary	ovary
15	chr18:43715600-43732000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:43715600-43733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:43722400-43736600	Weak transcription	Fetal Stomach	stomach
18	chr18:43724000-43732000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:43724400-43732000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:43724800-43732800	Weak transcription	Pancreas	Pancrea
21	chr18:43727200-43731800	Weak transcription	HSMMtube	muscle
22	chr18:43728600-43730400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:43728600-43730400	Enhancers	Dnd41	blood
24	chr18:43728600-43730600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:43728600-43730600	Enhancers	Primary T cells from cord blood	blood
26	chr18:43728600-43733800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr18:43728600-43735600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr18:43728600-43735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr18:43728800-43730400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr18:43728800-43730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr18:43728800-43730600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr18:43728800-43730800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr18:43728800-43731000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr18:43728800-43731200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr18:43728800-43732000	Weak transcription	NHEK	skin
36	chr18:43728800-43735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr18:43728800-43735600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr18:43729000-43730400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr18:43729000-43730600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr18:43729200-43731800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr18:43729200-43732000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:43729200-43732000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:43729200-43732200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:43729200-43732400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:43729200-43732400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:43729200-43732800	Weak transcription	Stomach Mucosa	stomach
47	chr18:43729400-43731800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr18:43729800-43730400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:43730000-43732600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr18:43730200-43731600	Weak transcription	Fetal Muscle Trunk	muscle

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