Variant report

Variant	rs2757919
Chromosome Location	chr2:114199998-114199999
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10170810	0.81[EUR][1000 genomes]
rs1191629	0.87[EUR][1000 genomes]
rs1191646	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1210133	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12612523	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12622933	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13409019	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13411929	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2360232	0.88[EUR][1000 genomes]
rs2475450	0.81[AMR][1000 genomes]
rs2757889	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2757891	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2757893	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2757935	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3099505	0.81[ASN][1000 genomes]
rs3877318	0.88[EUR][1000 genomes]
rs72611929	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72611930	0.86[EUR][1000 genomes]
rs7566223	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1002255	chr2:114120037-114236620	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv18442	chr2:114167656-114267309	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1802875	chr2:114167899-114317895	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv10130	chr2:114171428-114254459	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv834334	chr2:114175740-114338827	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv874902	chr2:114179202-114300577	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv979105	chr2:114192364-114228793	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv961492	chr2:114192364-114236951	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2757919	CBWD1///CBWD2///CBWD3///CBWD5///CBWD6///	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114195800-114204000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:114195800-114216000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:114196000-114204000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:114196000-114204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:114196000-114204200	Weak transcription	Pancreas	Pancrea
6	chr2:114196000-114204400	Weak transcription	Fetal Lung	lung
7	chr2:114196000-114205600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:114196000-114205800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:114196000-114205800	Weak transcription	Ovary	ovary
10	chr2:114196000-114206000	Weak transcription	Spleen	Spleen
11	chr2:114196000-114206200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:114196000-114206400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:114196000-114208000	Weak transcription	Left Ventricle	heart
14	chr2:114196000-114219600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:114196000-114221400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:114196000-114221600	Weak transcription	Fetal Thymus	thymus
17	chr2:114196000-114224800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:114196000-114226600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:114196000-114227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:114196200-114200000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:114196200-114202400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:114196200-114202400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:114196200-114204000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:114196200-114204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:114196200-114204200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:114196200-114204400	Weak transcription	NH-A	brain
27	chr2:114196200-114205400	Weak transcription	Fetal Stomach	stomach
28	chr2:114196200-114205800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:114196200-114206200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:114196200-114207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:114196200-114208000	Weak transcription	Fetal Intestine Large	intestine
32	chr2:114196200-114219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:114196200-114220400	Weak transcription	Osteobl	bone
34	chr2:114196200-114220800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:114196200-114221200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:114196200-114221800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:114196200-114222000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:114196200-114223400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:114196200-114230800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:114196200-114234000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:114196200-114238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:114196200-114242200	Weak transcription	Fetal Intestine Small	intestine
43	chr2:114196200-114255400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:114196400-114216600	Weak transcription	A549	lung
45	chr2:114196400-114222200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:114196600-114202400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:114196600-114204000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:114196600-114204200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:114196600-114204200	Weak transcription	HMEC	breast
50	chr2:114196600-114204600	Weak transcription	NHEK	skin

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