Variant report

Variant	rs12520364
Chromosome Location	chr5:95045949-95045950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr5:95045939-95047009	K562	blood:	n/a	n/a
2	POLR2A	chr5:95045933-95048741	K562	blood:	n/a	n/a
3	TRIM28	chr5:95045942-95047076	K562	blood:	n/a	n/a
4	GATA1	chr5:95045802-95046504	PBDE	blood:	n/a	n/a
5	TCF7L2	chr5:95045947-95047665	HCT-116	colon:	n/a	n/a
6	MAFK	chr5:95045867-95046423	K562	blood:	n/a	n/a
7	TEAD4	chr5:95045890-95046473	K562	blood:	n/a	n/a
8	TBL1XR1	chr5:95045935-95048697	K562	blood:	n/a	n/a
9	BCLAF1	chr5:95045878-95046471	K562	blood:	n/a	n/a
10	KAP1	chr5:95045896-95046441	HEK293	kidney:	n/a	n/a
11	NR2F2	chr5:95045747-95049349	K562	blood:	n/a	n/a
12	JUND	chr5:95045928-95048619	K562	blood:	n/a	n/a
13	JUN	chr5:95045663-95048779	K562	blood:	n/a	chr5:95048130-95048143
14	CBX3	chr5:95045771-95046436	K562	blood:	n/a	n/a
15	RCOR1	chr5:95045927-95047614	K562	blood:	n/a	n/a
16	TEAD4	chr5:95045704-95046489	K562	blood:	n/a	n/a
17	EP300	chr5:95045913-95048751	K562	blood:	n/a	n/a
18	POLR2A	chr5:95045565-95046206	MCF-7	breast:	n/a	n/a
19	SETDB1	chr5:95045942-95046405	U2OS	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95032657..95035811-chr5:95043701..95049648,10	MCF-7	breast:
2	chr5:95040975..95044012-chr5:95044306..95047616,3	MCF-7	breast:
3	chr5:95031841..95037563-chr5:95043452..95050597,14	MCF-7	breast:
4	chr5:95040226..95041921-chr5:95045124..95047420,2	MCF-7	breast:
5	chr5:94982379..94987076-chr5:95045372..95049493,6	K562	blood:
6	chr5:95045599..95047743-chr5:95114139..95116293,2	MCF-7	breast:
7	chr5:95044657..95047785-chr5:95094774..95097386,3	MCF-7	breast:

No data

Variant related genes	Relation type
RHOBTB3	TF binding region
ENSG00000164292	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000145757	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35870767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130724	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4869247	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3380725	chr5:95041824-95049026	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3353944	chr5:95043196-95048394	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95031400-95046000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:95033200-95047000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:95039800-95048000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:95040200-95046000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:95040600-95046000	Weak transcription	HSMMtube	muscle
6	chr5:95040600-95053400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:95042200-95051800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:95044400-95046000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:95044400-95048400	Enhancers	Placenta	Placenta
10	chr5:95045200-95046200	Flanking Active TSS	K562	blood
11	chr5:95045400-95046800	Enhancers	Fetal Heart	heart
12	chr5:95045600-95046000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr5:95045600-95046000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr5:95045600-95046000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:95045600-95046200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:95045600-95046200	Enhancers	Right Ventricle	heart
17	chr5:95045600-95046400	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr5:95045600-95046400	Enhancers	HepG2	liver
19	chr5:95045600-95048200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:95045600-95048600	Enhancers	Fetal Intestine Small	intestine
21	chr5:95045800-95046000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:95045800-95046000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:95045800-95046000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:95045800-95046000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr5:95045800-95046000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:95045800-95046000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:95045800-95046000	Enhancers	Colon Smooth Muscle	Colon
28	chr5:95045800-95046000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:95045800-95046000	Enhancers	Pancreas	Pancrea
30	chr5:95045800-95046200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:95045800-95046200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:95045800-95046200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr5:95045800-95046200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr5:95045800-95046200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr5:95045800-95046200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr5:95045800-95046200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:95045800-95046200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:95045800-95046200	Active TSS	Brain Angular Gyrus	brain
39	chr5:95045800-95046200	Active TSS	Brain Anterior Caudate	brain
40	chr5:95045800-95046200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr5:95045800-95046200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr5:95045800-95046200	Flanking Active TSS	Hela-S3	cervix
43	chr5:95045800-95046400	Enhancers	Fetal Kidney	kidney
44	chr5:95045800-95046600	Enhancers	Ovary	ovary
45	chr5:95045800-95046600	Enhancers	Right Atrium	heart
46	chr5:95045800-95046800	Enhancers	Adipose Nuclei	Adipose
47	chr5:95045800-95046800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr5:95045800-95047000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:95045800-95047000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr5:95045800-95047200	Enhancers	Fetal Muscle Leg	muscle

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