Variant report

Variant	rs71353227
Chromosome Location	chr18:12872424-12872425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12871381..12873022-chr18:12906708..12908955,2	K562	blood:
2	chr18:12872289..12874141-chr18:12947489..12949482,2	MCF-7	breast:
3	chr18:12866249..12869188-chr18:12870133..12873089,3	K562	blood:
4	chr18:12871062..12874114-chr18:12882176..12885249,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085415	Chromatin interaction
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12955302	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12963474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12964314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12968719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12969241	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34153303	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34416003	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34799913	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35320197	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35923716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35954636	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35967540	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12838800-12879000	Weak transcription	Psoas Muscle	Psoas
2	chr18:12844200-12879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:12857800-12881600	Weak transcription	Fetal Stomach	stomach
4	chr18:12858000-12872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:12859600-12876800	Weak transcription	Primary T cells from cord blood	blood
6	chr18:12861800-12872600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12862800-12877000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:12863000-12879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:12863000-12879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:12863200-12879000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:12863200-12879800	Weak transcription	Hela-S3	cervix
12	chr18:12863200-12880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:12863400-12875400	Weak transcription	HepG2	liver
14	chr18:12863400-12875800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:12863400-12879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:12863400-12879800	Weak transcription	NHEK	skin
17	chr18:12863400-12881400	Weak transcription	Right Atrium	heart
18	chr18:12863600-12875600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr18:12863600-12876200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:12863600-12880000	Weak transcription	Esophagus	oesophagus
21	chr18:12863600-12882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:12863800-12875600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr18:12863800-12878600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr18:12863800-12880000	Weak transcription	Small Intestine	intestine
25	chr18:12863800-12880200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:12864400-12876400	Weak transcription	Primary B cells from cord blood	blood
27	chr18:12864400-12876800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr18:12864400-12880000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:12864800-12878600	Weak transcription	Lung	lung
30	chr18:12865000-12881800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:12865200-12879800	Weak transcription	Fetal Lung	lung
32	chr18:12865800-12879200	Weak transcription	Pancreas	Pancrea
33	chr18:12865800-12883000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:12868000-12875800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:12868200-12877400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr18:12868400-12877200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr18:12868600-12879000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr18:12869000-12879400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:12869400-12873000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:12869400-12875800	Weak transcription	Thymus	Thymus
41	chr18:12871600-12872600	Enhancers	Dnd41	blood
42	chr18:12871800-12872600	Genic enhancers	Fetal Thymus	thymus
43	chr18:12871800-12873000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr18:12871800-12873200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr18:12871800-12873200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:12871800-12873600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr18:12872000-12873000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr18:12872200-12872800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr18:12872200-12872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr18:12872200-12873000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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