Variant report

Variant	rs73956231
Chromosome Location	chr18:43748286-43748287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43746724..43751707-chr18:43751917..43755971,9	K562	blood:
2	chr18:43746724..43751269-chr18:43752308..43755984,7	K562	blood:
3	chr18:43746705..43749861-chr18:43753099..43755750,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs55740138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55767951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55900453	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082923	0.82[AFR][1000 genomes]
rs56656421	1.00[EUR][1000 genomes]
rs56912043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57502921	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57693291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57803441	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58398659	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58725857	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58899840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58961089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59033182	0.82[AFR][1000 genomes]
rs59182447	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910849	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60077572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60100844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114246	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60336955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60781524	1.00[AMR][1000 genomes]
rs60921328	0.82[AFR][1000 genomes]
rs61201240	0.94[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	0.82[AFR][1000 genomes];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	0.91[AFR][1000 genomes]
rs73956218	0.84[AFR][1000 genomes]
rs73956219	0.91[AFR][1000 genomes]
rs73956220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956233	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956249	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956252	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956258	0.82[AFR][1000 genomes]
rs73956259	0.82[AFR][1000 genomes]
rs73956260	0.82[AFR][1000 genomes]
rs73956261	0.82[AFR][1000 genomes]
rs73956262	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956263	1.00[EUR][1000 genomes]
rs73956265	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956268	0.82[AFR][1000 genomes]
rs73956269	0.82[AFR][1000 genomes]
rs73956270	0.82[AFR][1000 genomes]
rs73956271	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956272	0.82[AFR][1000 genomes]
rs73956273	0.82[AFR][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	1.00[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
2	chr18:43714000-43748400	Weak transcription	Ovary	ovary
3	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:43737200-43749200	Weak transcription	HSMMtube	muscle
5	chr18:43737200-43749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:43737600-43753000	Weak transcription	Fetal Stomach	stomach
7	chr18:43739000-43753200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:43740200-43749200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:43740600-43749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:43742200-43749000	Weak transcription	Hela-S3	cervix
11	chr18:43744200-43749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:43744800-43749000	Weak transcription	K562	blood
13	chr18:43746200-43748400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr18:43746200-43748400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr18:43746200-43749600	Enhancers	Primary B cells from peripheral blood	blood
16	chr18:43746600-43749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:43747000-43749200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:43747000-43749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:43747000-43749400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:43747000-43753000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr18:43747000-43753000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:43747200-43749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr18:43747600-43748600	Enhancers	Fetal Thymus	thymus
24	chr18:43747800-43748400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr18:43747800-43748400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr18:43747800-43748400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr18:43747800-43748400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr18:43747800-43748400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr18:43747800-43748400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:43747800-43748400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr18:43747800-43748400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:43747800-43748400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:43747800-43748400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr18:43747800-43748400	Enhancers	Lung	lung
35	chr18:43747800-43748400	Active TSS	Rectal Smooth Muscle	rectum
36	chr18:43747800-43748400	Enhancers	Stomach Mucosa	stomach
37	chr18:43747800-43748400	Enhancers	Spleen	Spleen
38	chr18:43747800-43748400	Flanking Active TSS	GM12878-XiMat	blood
39	chr18:43747800-43748400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr18:43747800-43748600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr18:43748000-43748400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr18:43748000-43748400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr18:43748000-43748400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:43748000-43748400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr18:43748000-43748400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr18:43748000-43748400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr18:43748000-43748400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr18:43748000-43748400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:43748000-43748400	Enhancers	Brain Anterior Caudate	brain
50	chr18:43748000-43748400	Active TSS	Colonic Mucosa	Colon

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