Variant report

Variant	rs61201240
Chromosome Location	chr18:43739651-43739652
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43738327..43740955-chr18:43753393..43757387,3	K562	blood:
2	chr18:43739084..43741230-chr18:43849906..43852814,2	MCF-7	breast:
3	chr18:43734389..43736469-chr18:43738925..43741638,2	K562	blood:
4	chr18:43737408..43740388-chr18:43753340..43756305,2	MCF-7	breast:
5	chr18:43737274..43740808-chr18:43743421..43745536,3	K562	blood:
6	chr18:43737434..43740095-chr18:43752328..43754121,3	MCF-7	breast:
7	chr18:43737450..43741302-chr18:43741650..43744283,3	MCF-7	breast:
8	chr18:43731595..43733351-chr18:43739410..43741644,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55759370	0.94[AFR][1000 genomes]
rs55767951	0.88[AFR][1000 genomes]
rs55880870	0.94[AFR][1000 genomes]
rs56044366	0.94[AFR][1000 genomes]
rs56065400	0.88[AFR][1000 genomes]
rs56912043	0.94[AFR][1000 genomes]
rs57502921	0.82[AFR][1000 genomes]
rs57693291	0.83[AFR][1000 genomes]
rs58398659	0.82[AFR][1000 genomes]
rs58725857	0.94[AFR][1000 genomes]
rs58899840	0.94[AFR][1000 genomes]
rs58961089	0.94[AFR][1000 genomes]
rs59910849	0.82[AFR][1000 genomes]
rs60100844	0.94[AFR][1000 genomes]
rs60336955	0.94[AFR][1000 genomes]
rs73956217	0.91[AFR][1000 genomes]
rs73956218	0.84[AFR][1000 genomes]
rs73956219	0.91[AFR][1000 genomes]
rs73956221	0.89[AFR][1000 genomes]
rs73956222	0.97[AFR][1000 genomes]
rs73956223	0.97[AFR][1000 genomes]
rs73956231	0.94[AFR][1000 genomes]
rs73956233	0.88[AFR][1000 genomes]
rs73956234	0.94[AFR][1000 genomes]
rs73956249	0.88[AFR][1000 genomes]
rs73956251	0.82[AFR][1000 genomes]
rs8096742	0.94[AFR][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
2	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
3	chr18:43714000-43748400	Weak transcription	Ovary	ovary
4	chr18:43733200-43740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:43733200-43740600	Enhancers	HMEC	breast
6	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:43733600-43746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr18:43733600-43746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:43733800-43744200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:43733800-43746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr18:43734200-43746200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:43734600-43740600	Enhancers	NHEK	skin
13	chr18:43736400-43740400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:43736400-43742400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr18:43736400-43742400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr18:43736400-43747800	Weak transcription	Thymus	Thymus
17	chr18:43736800-43740200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:43736800-43740400	Weak transcription	NH-A	brain
19	chr18:43736800-43746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:43737200-43747800	Weak transcription	Spleen	Spleen
21	chr18:43737200-43749200	Weak transcription	HSMMtube	muscle
22	chr18:43737200-43749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:43737600-43739800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:43737600-43740000	Weak transcription	HepG2	liver
25	chr18:43737600-43740200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr18:43737600-43740600	Weak transcription	Fetal Thymus	thymus
27	chr18:43737600-43742000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:43737600-43753000	Weak transcription	Fetal Stomach	stomach
29	chr18:43737800-43740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:43738000-43740000	Weak transcription	Primary T cells from cord blood	blood
31	chr18:43738600-43739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr18:43738800-43740000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:43738800-43740400	Weak transcription	Dnd41	blood
34	chr18:43738800-43740400	Weak transcription	Osteobl	bone
35	chr18:43739000-43739800	Weak transcription	Placenta	Placenta
36	chr18:43739000-43739800	Enhancers	Hela-S3	cervix
37	chr18:43739000-43740000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:43739000-43740000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr18:43739000-43740000	Weak transcription	A549	lung
40	chr18:43739000-43740200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr18:43739000-43742000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:43739000-43742000	Weak transcription	K562	blood
43	chr18:43739000-43743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:43739000-43753200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr18:43739200-43741800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:43739400-43739800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr18:43739600-43741200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr18:43739600-43741200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr18:43739600-43742200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:43739600-43742400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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