Variant report

Variant	rs3877318
Chromosome Location	chr2:114196427-114196428
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:114194893-114197476	GM12878	blood:	n/a	n/a
2	IRF4	chr2:114194945-114196429	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:114194882-114197436	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:114194932-114197522	GM12878	blood:	n/a	n/a
5	HEY1	chr2:114194923-114197489	HepG2	liver:	n/a	chr2:114195334-114195343 chr2:114195336-114195345
6	POLR2A	chr2:114194910-114196493	GM12892	blood:	n/a	n/a
7	NFIC	chr2:114195110-114196445	GM12878	blood:	n/a	n/a
8	RXRA	chr2:114195897-114196445	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:114195005-114196427	GM12891	blood:	n/a	n/a
10	IRF4	chr2:114194953-114196452	GM12878	blood:	n/a	n/a
11	SP1	chr2:114194869-114196444	GM12878	blood:	n/a	chr2:114195256-114195266 chr2:114195256-114195266 chr2:114195723-114195732
12	FOXA1	chr2:114195793-114196669	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CBWD2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1191629	0.88[EUR][1000 genomes]
rs1191646	0.86[EUR][1000 genomes]
rs1210133	0.89[EUR][1000 genomes]
rs12612523	0.88[EUR][1000 genomes]
rs12622933	0.89[EUR][1000 genomes]
rs13409019	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13411929	0.88[EUR][1000 genomes]
rs2360232	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2757889	0.82[EUR][1000 genomes]
rs2757891	0.82[EUR][1000 genomes]
rs2757893	0.80[EUR][1000 genomes]
rs2757919	0.88[EUR][1000 genomes]
rs2757935	0.92[EUR][1000 genomes]
rs72611929	0.88[EUR][1000 genomes]
rs72611930	0.87[EUR][1000 genomes]
rs7566223	0.81[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
rs3877318	CBWD1///CBWD2///CBWD3///CBWD5///CBWD6///	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114195000-114196600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:114195000-114196600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:114195000-114196600	Active TSS	Duodenum Mucosa	Duodenum
4	chr2:114195000-114196600	Active TSS	NHEK	skin
5	chr2:114195000-114197000	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:114195200-114196600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:114195400-114196600	Active TSS	HepG2	liver
8	chr2:114195400-114196600	Active TSS	HMEC	breast
9	chr2:114195600-114196600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:114195600-114196600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:114195800-114204000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:114195800-114216000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:114196000-114196600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:114196000-114196600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:114196000-114197200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:114196000-114199600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:114196000-114204000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:114196000-114204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:114196000-114204200	Weak transcription	Pancreas	Pancrea
20	chr2:114196000-114204400	Weak transcription	Fetal Lung	lung
21	chr2:114196000-114205600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:114196000-114205800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:114196000-114205800	Weak transcription	Ovary	ovary
24	chr2:114196000-114206000	Weak transcription	Spleen	Spleen
25	chr2:114196000-114206200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:114196000-114206400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:114196000-114208000	Weak transcription	Left Ventricle	heart
28	chr2:114196000-114219600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:114196000-114221400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:114196000-114221600	Weak transcription	Fetal Thymus	thymus
31	chr2:114196000-114224800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:114196000-114226600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:114196000-114227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:114196200-114196600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:114196200-114196600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:114196200-114196600	Enhancers	Liver	Liver
37	chr2:114196200-114200000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:114196200-114202400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:114196200-114202400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:114196200-114204000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:114196200-114204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:114196200-114204200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:114196200-114204400	Weak transcription	NH-A	brain
44	chr2:114196200-114205400	Weak transcription	Fetal Stomach	stomach
45	chr2:114196200-114205800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:114196200-114206200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:114196200-114207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:114196200-114208000	Weak transcription	Fetal Intestine Large	intestine
49	chr2:114196200-114219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:114196200-114220400	Weak transcription	Osteobl	bone

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