Variant report

Variant	rs72946653
Chromosome Location	chr2:114516072-114516073
allele	A/C
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:8)
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	POLR2A	chr2:114515987-114516141	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:
2	chr2:114514472..114517401-chr2:114595773..114597784,2	MCF-7	breast:
3	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
4	chr2:114514479..114516685-chr2:114517501..114519701,2	K562	blood:
5	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
6	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
7	chr2:114489220..114494215-chr2:114513189..114517576,5	K562	blood:
8	chr2:114514673..114516598-chr2:114527693..114530348,3	K562	blood:

No data

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59826038	1.00[AMR][1000 genomes]
rs72944694	1.00[AMR][1000 genomes]
rs72946668	1.00[AMR][1000 genomes]
rs72946691	1.00[AMR][1000 genomes]
rs72948671	1.00[AMR][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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114515200-114516200	Weak transcription	HSMMtube	muscle
2	chr2:114515200-114517600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:114515200-114517800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:114515200-114517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:114515200-114517800	Weak transcription	NH-A	brain
6	chr2:114515200-114518200	Weak transcription	Psoas Muscle	Psoas
7	chr2:114515200-114519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:114515200-114519600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:114515200-114519800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:114515200-114520400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:114515200-114520400	Weak transcription	Left Ventricle	heart
12	chr2:114515400-114516400	Weak transcription	GM12878-XiMat	blood
13	chr2:114515400-114516400	Weak transcription	NHDF-Ad	bronchial
14	chr2:114515400-114517600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:114515400-114517600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:114515400-114517600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:114515400-114517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:114515400-114517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:114515400-114517800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:114515400-114517800	Weak transcription	HSMM	muscle
21	chr2:114515400-114517800	Weak transcription	HUVEC	blood vessel
22	chr2:114515400-114517800	Weak transcription	NHLF	lung
23	chr2:114515400-114517800	Weak transcription	Osteobl	bone
24	chr2:114515400-114518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:114515400-114518000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:114515400-114519000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:114515400-114519000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:114515400-114519600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:114515400-114519800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:114515400-114519800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:114515400-114519800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:114515400-114519800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:114515400-114520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:114515600-114519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:114515600-114521600	Weak transcription	Duodenum Mucosa	Duodenum

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