Variant report

Variant	rs793077
Chromosome Location	chr2:114393214-114393215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:114392827-114393351	K562	blood:	n/a	n/a
2	CTCF	chr2:114392973-114393243	K562	blood:	n/a	n/a
3	CTCF	chr2:114392917-114393271	K562	blood:	n/a	n/a
4	CTCF	chr2:114392932-114393281	K562	blood:	n/a	n/a
5	CTCF	chr2:114392970-114393239	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:114392913-114393339	A549	lung:	n/a	n/a
7	FOSL2	chr2:114392939-114393217	HepG2	liver:	n/a	n/a
8	CTCF	chr2:114392983-114393223	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114393176-114393226	H1-hESC	embryonic stem cell:	embryo
2	chr2:114393176-114393226	BJ	skin:	n/a
3	chr2:114393176-114393226	NH-A	brain:	n/a
4	chr2:114393176-114393226	HCF	heart:	n/a
5	chr2:114393176-114393226	SK-N-MC	brain:	n/a
6	chr2:114393176-114393226	HRE	kidney:	n/a
7	chr2:114393176-114393226	NB4	blood:	n/a
8	chr2:114393176-114393226	GM19239	blood:	n/a
9	chr2:114393176-114393226	NHDF-neo	bronchial:	n/a
10	chr2:114393176-114393226	BE2_C	brain:	n/a
11	chr2:114393176-114393226	AG09309	skin:	n/a
12	chr2:114393176-114393226	HMEC	breast:	n/a
13	chr2:114393176-114393226	HEEpiC	esophagus:	n/a
14	chr2:114393176-114393226	SAEC	small airway:	n/a
15	chr2:114393176-114393226	CMK	blood:	n/a
16	chr2:114393176-114393226	U87	brain:	n/a
17	chr2:114393176-114393226	HIPEpiC	eye:	n/a
18	chr2:114393176-114393226	PFSK-1	brain:	n/a
19	chr2:114393176-114393226	HEK293	kidney:	embryo
20	chr2:114393176-114393226	SK-N-SH_RA	brain:	n/a
21	chr2:114393176-114393226	HNPCEpiC	eye:	n/a
22	chr2:114393176-114393226	AoSMC	blood vessel:	n/a
23	chr2:114393176-114393226	GM12892	blood:	n/a
24	chr2:114393176-114393226	ECC-1	luminal epithelium:	n/a
25	chr2:114393176-114393226	GM12891	blood:	n/a
26	chr2:114393176-114393226	NT2-D1	testis:	n/a
27	chr2:114393176-114393226	SK-N-SH	brain:	n/a
28	chr2:114393176-114393226	PANC-1	pancreas:	n/a
29	chr2:114393176-114393226	NHBE	bronchial:	n/a
30	chr2:114393176-114393226	Hela-S3	cervix:	n/a
31	chr2:114393176-114393226	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:114393176-114393226	GM12878	blood:	n/a
33	chr2:114393176-114393226	Caco-2	colon:	n/a
34	chr2:114393176-114393226	HRCEpiC	kidney:	n/a
35	chr2:114393176-114393226	ovcar-3	ovarian:	n/a
36	chr2:114393176-114393226	AG04450	lung:	fetal
37	chr2:114393176-114393226	HRPEpiC	eye:	n/a
38	chr2:114393176-114393226	HL-60	blood:	n/a
39	chr2:114393176-114393226	HCT-116	colon:	n/a
40	chr2:114393176-114393226	AG09319	gingival:	n/a
41	chr2:114393176-114393226	IMR90	lung:	fetal
42	chr2:114393176-114393226	Hepatocyte	liver:	n/a
43	chr2:114393176-114393226	LNCaP	prostate:	n/a
44	chr2:114393176-114393226	RPTEC	kidney:	n/a
45	chr2:114393176-114393226	HCPEpiC	choroid plexus:	n/a
46	chr2:114393176-114393226	HepG2	liver:	n/a
47	chr2:114393176-114393226	MCF10A-Er-Src	breast:	n/a
48	chr2:114393176-114393226	A549	lung:	n/a
49	chr2:114393176-114393226	AG10803	skin:	n/a
50	chr2:114393176-114393226	AG04449	skin:	fetal

No data

Variant related genes	Relation type
RABL2A	TF binding region
RABL2A	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1040646	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1665302	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1739509	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964835	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs793068	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508163	chr2:114364609-114431004	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv961495	chr2:114381866-114415806	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv962001	chr2:114390234-114415806	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs793077	RPL23AP7	cis	Esophagus Mucosa	GTEx
rs793077	RPL23AP7	cis	Thyroid	GTEx
rs793077	RPL23AP7	cis	Skin Sun Exposed Lower leg	GTEx
rs793077	RPL23AP7	cis	Artery Aorta	GTEx
rs793077	RPL23AP7	cis	Adipose Subcutaneous	GTEx
rs793077	RPL23AP7	cis	Whole Blood	GTEx
rs793077	RPL23AP7	cis	Stomach	GTEx
rs793077	RPL23AP7	cis	Nerve Tibial	GTEx
rs793077	RPL23AP7	cis	lung	GTEx
rs793077	RPL23AP7	cis	Artery Tibial	GTEx
rs793077	RPL23AP7	cis	Muscle Skeletal	GTEx
rs793077	RPL23AP7	cis	Esophagus Muscularis	GTEx
rs793077	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114385400-114393400	Weak transcription	Pancreas	Pancrea
2	chr2:114385400-114393800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:114385400-114394000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:114385400-114394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:114385400-114394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:114385400-114395000	Weak transcription	Thymus	Thymus
7	chr2:114385800-114393800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:114385800-114394000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:114385800-114394200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:114385800-114394200	Weak transcription	A549	lung
11	chr2:114385800-114394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:114385800-114394600	Weak transcription	Colonic Mucosa	Colon
13	chr2:114386000-114393400	Weak transcription	Fetal Kidney	kidney
14	chr2:114386000-114393600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:114386000-114393600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:114386000-114393800	Weak transcription	NHEK	skin
17	chr2:114386000-114394000	Weak transcription	Stomach Mucosa	stomach
18	chr2:114386000-114394400	Weak transcription	Gastric	stomach
19	chr2:114386000-114394600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:114386000-114394600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:114386000-114394600	Weak transcription	HSMMtube	muscle
22	chr2:114386000-114394800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:114386200-114393400	Weak transcription	Fetal Lung	lung
24	chr2:114386200-114393800	Weak transcription	Dnd41	blood
25	chr2:114386800-114393400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:114388200-114393400	Strong transcription	Fetal Stomach	stomach
27	chr2:114388600-114400400	Weak transcription	Brain Anterior Caudate	brain
28	chr2:114390600-114393600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:114390600-114395400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:114391000-114393400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:114391600-114393400	Strong transcription	Fetal Intestine Small	intestine
32	chr2:114391600-114394200	Weak transcription	Fetal Intestine Large	intestine
33	chr2:114391600-114394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:114391600-114394800	Weak transcription	Lung	lung
35	chr2:114391800-114393400	Weak transcription	Left Ventricle	heart
36	chr2:114391800-114393400	Strong transcription	Right Ventricle	heart
37	chr2:114391800-114393400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:114391800-114393400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:114391800-114393400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:114391800-114394600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:114391800-114394600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:114391800-114395000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:114392000-114393600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:114392000-114393600	Weak transcription	Fetal Thymus	thymus
45	chr2:114392000-114393600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:114392200-114393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:114392200-114393800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:114392200-114393800	Weak transcription	HepG2	liver
49	chr2:114392200-114394000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:114392200-114394400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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