Variant report

Variant	rs4372913
Chromosome Location	chr2:114517748-114517749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr2:114517696-114518566	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114512582..114515674-chr2:114516372..114520568,3	MCF-7	breast:
2	chr2:114516554..114518950-chr2:114645999..114648586,2	K562	blood:
3	chr2:114514378..114516716-chr2:114517485..114519813,3	MCF-7	breast:
4	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
5	chr2:114514479..114516685-chr2:114517501..114519701,2	K562	blood:

No data

Variant related genes	Relation type
SLC35F5	TF binding region
ENSG00000115084	Chromatin interaction
ENSG00000115091	Chromatin interaction
ENSG00000270019	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1053413	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12624301	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2166966	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748906	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4321376	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560122	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58673639	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61270049	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62168821	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62168828	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62170067	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62170075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62170076	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62170102	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72833634	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73955058	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs960542	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4372913	AC017074.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4372913	RABL2A	cis	Thyroid	GTEx
rs4372913	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114515200-114517800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:114515200-114517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:114515200-114517800	Weak transcription	NH-A	brain
4	chr2:114515200-114518200	Weak transcription	Psoas Muscle	Psoas
5	chr2:114515200-114519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:114515200-114519600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:114515200-114519800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:114515200-114520400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:114515200-114520400	Weak transcription	Left Ventricle	heart
10	chr2:114515400-114517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:114515400-114517800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:114515400-114517800	Weak transcription	HSMM	muscle
13	chr2:114515400-114517800	Weak transcription	HUVEC	blood vessel
14	chr2:114515400-114517800	Weak transcription	NHLF	lung
15	chr2:114515400-114517800	Weak transcription	Osteobl	bone
16	chr2:114515400-114518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:114515400-114518000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:114515400-114519000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:114515400-114519000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:114515400-114519600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:114515400-114519800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:114515400-114519800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:114515400-114519800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:114515400-114519800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:114515400-114520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:114515600-114519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:114515600-114521600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:114517400-114521000	Enhancers	NHDF-Ad	bronchial
29	chr2:114517600-114518000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:114517600-114519200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:114517600-114520200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:114517600-114520200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:114517600-114520400	Enhancers	HSMMtube	muscle
34	chr2:114517600-114521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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