Variant report

Variant	rs4321376
Chromosome Location	chr2:114513901-114513902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114512789..114515409-chr20:55840179..55841852,2	MCF-7	breast:
2	chr1:45196597..45197146-chr2:114513869..114514378,2	HCT-116	colon:
3	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:
4	chr2:114513672..114514318-chr9:88356507..88357153,2	Hela-S3	cervix:
5	chr19:51161342..51161939-chr2:114513674..114514254,2	NB4	blood:
6	chr2:114491572..114494215-chr2:114513189..114515373,3	K562	blood:
7	chr12:44199519..44200501-chr2:114513660..114514189,2	Hela-S3	cervix:
8	chr2:114512297..114513973-chr2:114517803..114519961,2	MCF-7	breast:
9	chr2:114513011..114515179-chr2:114599381..114601639,2	MCF-7	breast:
10	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
11	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
12	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
13	chr2:114513771..114515245-chr2:114647371..114648721,7	MCF-7	breast:
14	chr2:114512943..114515625-chr2:114589095..114591354,2	MCF-7	breast:
15	chr2:114489220..114494215-chr2:114513189..114517576,5	K562	blood:
16	chr2:114512708..114514375-chr2:114682269..114685341,3	MCF-7	breast:
17	chr2:114501133..114502988-chr2:114513074..114515544,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000228857	Chromatin interaction
ENSG00000270019	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000235034	Chromatin interaction
ENSG00000135049	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1053413	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12624301	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2166966	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3748906	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4372913	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560122	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58673639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61270049	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62168821	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62168828	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62170067	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62170075	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62170076	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62170102	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72833634	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73955058	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960542	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4321376	AC017074.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4321376	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114511200-114515000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:114511600-114515200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:114512000-114514600	Active TSS	HSMMtube	muscle
4	chr2:114512000-114514800	Active TSS	HMEC	breast
5	chr2:114512000-114515200	Active TSS	NHDF-Ad	bronchial
6	chr2:114512000-114515200	Active TSS	NHLF	lung
7	chr2:114512000-114515400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:114512200-114514800	Active TSS	NHEK	skin
9	chr2:114512200-114515000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:114512200-114515000	Active TSS	GM12878-XiMat	blood
11	chr2:114512200-114515200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:114512200-114515200	Active TSS	HSMM	muscle
13	chr2:114512200-114515400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:114512400-114514600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:114512400-114514600	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:114512400-114514800	Active TSS	Fetal Kidney	kidney
17	chr2:114512400-114514800	Active TSS	Osteobl	bone
18	chr2:114512400-114515200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:114512400-114515200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:114512400-114515200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:114512400-114515200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:114512400-114515200	Active TSS	Fetal Intestine Large	intestine
23	chr2:114512400-114515200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:114512400-114515200	Active TSS	NH-A	brain
25	chr2:114512400-114515400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:114512400-114515400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:114512400-114515400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:114512400-114515400	Active TSS	A549	lung
29	chr2:114512600-114514800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:114512600-114514800	Bivalent/Poised TSS	HepG2	liver
31	chr2:114512600-114515000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:114512600-114515000	Active TSS	Left Ventricle	heart
33	chr2:114512600-114515000	Active TSS	Ovary	ovary
34	chr2:114512600-114515200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:114512600-114515200	Active TSS	Aorta	Aorta
36	chr2:114512600-114515200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:114512600-114515200	Active TSS	Brain Substantia Nigra	brain
38	chr2:114512600-114515200	Active TSS	Esophagus	oesophagus
39	chr2:114512600-114515200	Active TSS	Fetal Intestine Small	intestine
40	chr2:114512600-114515200	Active TSS	Psoas Muscle	Psoas
41	chr2:114512600-114515200	Active TSS	Right Ventricle	heart
42	chr2:114512600-114515400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr2:114512600-114515400	Active TSS	Fetal Stomach	stomach
44	chr2:114512600-114515400	Active TSS	Hela-S3	cervix
45	chr2:114512800-114514000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:114512800-114514800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:114512800-114514800	Active TSS	Fetal Lung	lung
48	chr2:114512800-114514800	Active TSS	Fetal Muscle Trunk	muscle
49	chr2:114512800-114514800	Active TSS	Fetal Muscle Leg	muscle
50	chr2:114512800-114515200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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