Variant report

Variant	rs58353248
Chromosome Location	chr12:46930772-46930773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
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	GTF2F1	chr12:46930733-46930830	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:46930757-46930807	PFSK-1	brain:	n/a
2	chr12:46930757-46930807	HepG2	liver:	n/a
3	chr12:46930757-46930807	U87	brain:	n/a
4	chr12:46930757-46930807	SK-N-MC	brain:	n/a
5	chr12:46930757-46930807	ECC-1	luminal epithelium:	n/a
6	chr12:46930757-46930807	SK-N-SH	brain:	n/a
7	chr12:46930757-46930807	K562	blood:	n/a
8	chr12:46930757-46930807	HCPEpiC	choroid plexus:	n/a
9	chr12:46930757-46930807	NHBE	bronchial:	n/a
10	chr12:46930757-46930807	HRCEpiC	kidney:	n/a
11	chr12:46930757-46930807	PANC-1	pancreas:	n/a
12	chr12:46930757-46930807	BJ	skin:	n/a
13	chr12:46930757-46930807	GM12878	blood:	n/a
14	chr12:46930757-46930807	GM12892	blood:	n/a
15	chr12:46930757-46930807	HNPCEpiC	eye:	n/a
16	chr12:46930757-46930807	HAEpiC	amniotic membrane:	n/a
17	chr12:46930757-46930807	AG09319	gingival:	n/a
18	chr12:46930757-46930807	AoSMC	blood vessel:	n/a
19	chr12:46930757-46930807	MCF-7	breast:	n/a
20	chr12:46930757-46930807	CMK	blood:	n/a
21	chr12:46930757-46930807	GM06990	blood:	n/a
22	chr12:46930757-46930807	ProgFib	skin:	n/a
23	chr12:46930757-46930807	SKMC	muscle:	n/a
24	chr12:46930757-46930807	T-47D	breast:	n/a
25	chr12:46930757-46930807	Jurkat	blood:	n/a
26	chr12:46930757-46930807	NH-A	brain:	n/a
27	chr12:46930757-46930807	GM19239	blood:	n/a
28	chr12:46930757-46930807	BE2_C	brain:	n/a
29	chr12:46930757-46930807	Caco-2	colon:	n/a
30	chr12:46930757-46930807	HEEpiC	esophagus:	n/a
31	chr12:46930757-46930807	LNCaP	prostate:	n/a
32	chr12:46930757-46930807	HIPEpiC	eye:	n/a
33	chr12:46930757-46930807	HRPEpiC	eye:	n/a
34	chr12:46930757-46930807	SAEC	small airway:	n/a
35	chr12:46930757-46930807	HL-60	blood:	n/a
36	chr12:46930757-46930807	HCM	heart:	n/a
37	chr12:46930757-46930807	RPTEC	kidney:	n/a
38	chr12:46930757-46930807	HEK293	kidney:	embryo
39	chr12:46930757-46930807	PrEC	prostate:	n/a
40	chr12:46930757-46930807	AG04450	lung:	fetal
41	chr12:46930757-46930807	HMEC	breast:	n/a
42	chr12:46930757-46930807	HCF	heart:	n/a
43	chr12:46930757-46930807	H1-hESC	embryonic stem cell:	embryo
44	chr12:46930757-46930807	IMR90	lung:	fetal
45	chr12:46930757-46930807	A549	lung:	n/a
46	chr12:46930757-46930807	HCT-116	colon:	n/a
47	chr12:46930757-46930807	NB4	blood:	n/a
48	chr12:46930757-46930807	NT2-D1	testis:	n/a
49	chr12:46930757-46930807	NHDF-neo	bronchial:	n/a
50	chr12:46930757-46930807	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46927349..46929035-chr12:46929088..46931055,2	MCF-7	breast:
2	chr12:46756844..46758445-chr12:46930645..46932829,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272369	TF binding region
ENSG00000272369	CpG island
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10467215	0.92[ASN][1000 genomes]
rs11183500	0.92[ASN][1000 genomes]
rs11183510	0.94[ASN][1000 genomes]
rs11183512	0.94[ASN][1000 genomes]
rs11183513	0.94[ASN][1000 genomes]
rs12296783	0.92[ASN][1000 genomes]
rs12302091	0.86[ASN][1000 genomes]
rs12317179	0.93[ASN][1000 genomes]
rs12317255	0.91[ASN][1000 genomes]
rs12321960	0.92[ASN][1000 genomes]
rs17096998	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34098443	0.94[ASN][1000 genomes]
rs36010856	0.91[ASN][1000 genomes]
rs3935048	0.92[ASN][1000 genomes]
rs58127062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58890669	0.91[ASN][1000 genomes]
rs59608605	0.91[ASN][1000 genomes]
rs7313172	0.96[ASN][1000 genomes]
rs73290315	0.91[ASN][1000 genomes]
rs7953339	0.92[ASN][1000 genomes]
rs7967889	0.91[ASN][1000 genomes]
rs7980023	0.93[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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46925200-46940600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:46925400-46939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:46925400-46940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:46925600-46940000	Weak transcription	NHEK	skin
5	chr12:46925800-46940200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:46926400-46939000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:46927600-46930800	Enhancers	K562	blood
8	chr12:46927600-46933000	Enhancers	Fetal Muscle Leg	muscle
9	chr12:46927600-46933600	Enhancers	Fetal Heart	heart
10	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:46928600-46931200	Weak transcription	Psoas Muscle	Psoas
12	chr12:46928800-46932800	Weak transcription	Ovary	ovary
13	chr12:46929000-46933400	Enhancers	HepG2	liver
14	chr12:46929400-46930800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:46929400-46930800	Enhancers	Right Atrium	heart
16	chr12:46929600-46930800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:46929600-46933800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:46929800-46930800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:46929800-46930800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:46929800-46931000	Enhancers	GM12878-XiMat	blood
21	chr12:46929800-46931400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:46930000-46933000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:46930000-46933800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:46930200-46932200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:46930200-46932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:46930200-46933400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:46930400-46931800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:46930400-46933200	Weak transcription	Left Ventricle	heart
29	chr12:46930600-46930800	Enhancers	Right Ventricle	heart
30	chr12:46930600-46931200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:46930600-46932600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:46930600-46932800	Weak transcription	Primary B cells from cord blood	blood
33	chr12:46930600-46938600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:46930600-46940000	Weak transcription	Primary B cells from peripheral blood	blood

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