Variant report

Variant	rs73956222
Chromosome Location	chr18:43738538-43738539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43738327..43740955-chr18:43753393..43757387,3	K562	blood:
2	chr18:43731824..43733616-chr18:43737124..43738884,2	MCF-7	breast:
3	chr18:43737408..43740388-chr18:43753340..43756305,2	MCF-7	breast:
4	chr18:43737274..43740808-chr18:43743421..43745536,3	K562	blood:
5	chr18:43737434..43740095-chr18:43752328..43754121,3	MCF-7	breast:
6	chr18:43737450..43741302-chr18:43741650..43744283,3	MCF-7	breast:
7	chr18:43736114..43739011-chr18:43760662..43762501,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs55740138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55767951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55900453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56656421	1.00[EUR][1000 genomes]
rs56912043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57502921	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57693291	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57803441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58398659	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58725857	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58899840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58961089	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59182447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910849	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60077572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60100844	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114246	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60336955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60781524	1.00[AMR][1000 genomes]
rs61201240	0.97[AFR][1000 genomes]
rs7226417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237569	1.00[EUR][1000 genomes]
rs7239657	1.00[EUR][1000 genomes]
rs7240916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7241791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73425190	1.00[EUR][1000 genomes]
rs73956204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956217	0.94[AFR][1000 genomes]
rs73956218	0.87[AFR][1000 genomes]
rs73956219	0.94[AFR][1000 genomes]
rs73956220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956221	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956231	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956251	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956263	1.00[EUR][1000 genomes]
rs73956265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956280	1.00[AMR][1000 genomes]
rs73956287	1.00[EUR][1000 genomes]
rs8083843	1.00[EUR][1000 genomes]
rs8088778	1.00[EUR][1000 genomes]
rs8096742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:61 , 50 per page) page: 1 2

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	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
4	chr18:43714000-43748400	Weak transcription	Ovary	ovary
5	chr18:43732000-43738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr18:43732600-43739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:43733200-43740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:43733200-43740600	Enhancers	HMEC	breast
9	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:43733600-43746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:43733600-43746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:43733800-43744200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:43733800-43746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:43734200-43746200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:43734600-43740600	Enhancers	NHEK	skin
16	chr18:43734800-43739400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:43735000-43738600	Weak transcription	Psoas Muscle	Psoas
18	chr18:43735000-43739000	Enhancers	Placenta	Placenta
19	chr18:43735600-43739000	Enhancers	K562	blood
20	chr18:43736000-43738600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:43736400-43738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:43736400-43739200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:43736400-43740400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:43736400-43742400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr18:43736400-43742400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr18:43736400-43747800	Weak transcription	Thymus	Thymus
27	chr18:43736600-43739000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr18:43736600-43739200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr18:43736600-43739200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:43736800-43739400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr18:43736800-43740200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:43736800-43740400	Weak transcription	NH-A	brain
33	chr18:43736800-43746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr18:43737000-43739000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:43737000-43739000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr18:43737200-43739200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr18:43737200-43747800	Weak transcription	Spleen	Spleen
38	chr18:43737200-43749200	Weak transcription	HSMMtube	muscle
39	chr18:43737200-43749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:43737400-43738600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:43737600-43739800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:43737600-43740000	Weak transcription	HepG2	liver
43	chr18:43737600-43740200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr18:43737600-43740600	Weak transcription	Fetal Thymus	thymus
45	chr18:43737600-43742000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:43737600-43753000	Weak transcription	Fetal Stomach	stomach
47	chr18:43737800-43740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr18:43738000-43739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr18:43738000-43740000	Weak transcription	Primary T cells from cord blood	blood
50	chr18:43738200-43738600	Weak transcription	Dnd41	blood

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