Variant report

Variant	rs2956975
Chromosome Location	chr18:44450369-44450370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10070	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11659693	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1539881	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2156049	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs477826	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs478820	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs487386	0.85[AMR][1000 genomes]
rs4890347	0.81[EUR][1000 genomes]
rs4890698	0.86[EUR][1000 genomes]
rs4890704	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs501062	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs501882	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs504668	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs512699	0.84[AMR][1000 genomes]
rs513775	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs530205	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs541634	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs545344	0.83[AMR][1000 genomes]
rs578146	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs578451	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58993513	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs590923	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs593340	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs612519	0.86[AMR][1000 genomes]
rs616900	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs620228	0.86[EUR][1000 genomes]
rs629097	0.85[AMR][1000 genomes]
rs641366	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs644731	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs646128	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680018	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs693503	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8086286	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9304336	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9916891	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9948103	0.84[AFR][1000 genomes]
rs9948405	0.85[EUR][1000 genomes]
rs9954336	0.89[AMR][1000 genomes];0.89[EUR][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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:44435000-44457400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:44435400-44456000	Weak transcription	Fetal Kidney	kidney
5	chr18:44437200-44461600	Weak transcription	Ovary	ovary
6	chr18:44440400-44453400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:44447600-44457400	Weak transcription	Fetal Heart	heart
9	chr18:44447800-44451400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr18:44448000-44451000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr18:44448000-44451200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr18:44448000-44456400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:44448200-44450800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr18:44448400-44450400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr18:44448400-44450400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:44448400-44450800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr18:44448400-44451600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:44449000-44457400	Weak transcription	HSMMtube	muscle
20	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
21	chr18:44449000-44468600	Weak transcription	NHLF	lung
22	chr18:44449200-44455200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:44449200-44455800	Weak transcription	Lung	lung
24	chr18:44449200-44456800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr18:44449200-44457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:44449200-44457400	Weak transcription	Aorta	Aorta
27	chr18:44449200-44457400	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:44449200-44457400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr18:44449200-44457400	Weak transcription	Left Ventricle	heart
30	chr18:44449200-44457400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr18:44449200-44457400	Weak transcription	Thymus	Thymus
32	chr18:44449200-44458800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr18:44449400-44453600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:44449400-44454200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr18:44449400-44455400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr18:44449400-44455600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:44449400-44455600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:44449400-44455800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:44449400-44457200	Weak transcription	Spleen	Spleen
40	chr18:44449400-44457400	Weak transcription	Colon Smooth Muscle	Colon
41	chr18:44449600-44450800	Weak transcription	Fetal Lung	lung
42	chr18:44449600-44451200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:44449600-44453000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr18:44449600-44453400	Weak transcription	HMEC	breast
45	chr18:44449600-44454400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr18:44449600-44455600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr18:44449600-44455600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:44449600-44455800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr18:44449600-44457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:44449600-44457200	Weak transcription	HepG2	liver

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