Variant report

Variant	rs6758181
Chromosome Location	chr2:111886914-111886915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13396983	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17558117	0.82[ASN][1000 genomes]
rs1877331	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980045	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2015454	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241843	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241845	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36018702	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3827536	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4848393	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4849417	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4849442	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs616084	0.89[ASN][1000 genomes]
rs616130	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs616582	0.82[ASN][1000 genomes]
rs6542334	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6746608	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750599	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753785	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676119	0.89[ASN][1000 genomes]
rs7567444	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9308731	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv963952	chr2:111883259-111893062	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111888400	Weak transcription	HUVEC	blood vessel
2	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
3	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:111881200-111909600	Weak transcription	NHLF	lung
7	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:111881600-111887600	Strong transcription	Placenta	Placenta
10	chr2:111881600-111888200	Strong transcription	A549	lung
11	chr2:111881600-111888400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:111881600-111888600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:111881600-111889800	Strong transcription	K562	blood
14	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
16	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
17	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:111881800-111887600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:111881800-111887800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr2:111881800-111889800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:111881800-111893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:111881800-111893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:111881800-111893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:111881800-111894400	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
28	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:111882200-111887400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:111882400-111887400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:111882400-111887800	Strong transcription	Primary B cells from cord blood	blood
34	chr2:111882400-111888600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:111882600-111887400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:111882600-111887800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:111882600-111888200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:111882800-111887800	Strong transcription	HSMM	muscle
39	chr2:111883000-111887000	Weak transcription	Colonic Mucosa	Colon
40	chr2:111883000-111888200	Strong transcription	Fetal Intestine Large	intestine
41	chr2:111883000-111893200	Weak transcription	NH-A	brain
42	chr2:111883000-111893400	Weak transcription	Brain Anterior Caudate	brain
43	chr2:111883200-111894800	Weak transcription	NHEK	skin
44	chr2:111883400-111889400	Weak transcription	Pancreas	Pancrea
45	chr2:111883400-111890000	Strong transcription	Fetal Thymus	thymus
46	chr2:111883400-111890600	Weak transcription	GM12878-XiMat	blood
47	chr2:111883400-111890800	Weak transcription	Psoas Muscle	Psoas
48	chr2:111883400-111892800	Weak transcription	Fetal Stomach	stomach
49	chr2:111883400-111893000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:111883400-111893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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