Variant report

Variant	rs4899213
Chromosome Location	chr14:68068075-68068076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68068030-68068080	HRPEpiC	eye:	n/a
2	chr14:68068030-68068080	SK-N-SH_RA	brain:	n/a
3	chr14:68068030-68068080	AoSMC	blood vessel:	n/a
4	chr14:68068030-68068080	HRCEpiC	kidney:	n/a
5	chr14:68068030-68068080	PrEC	prostate:	n/a
6	chr14:68068030-68068080	NHBE	bronchial:	n/a
7	chr14:68068030-68068080	IMR90	lung:	fetal
8	chr14:68068030-68068080	MCF10A-Er-Src	breast:	n/a
9	chr14:68068030-68068080	K562	blood:	n/a
10	chr14:68068030-68068080	BJ	skin:	n/a
11	chr14:68068030-68068080	HUVEC	blood vessel:	n/a
12	chr14:68068030-68068080	PFSK-1	brain:	n/a
13	chr14:68068030-68068080	NT2-D1	testis:	n/a
14	chr14:68068030-68068080	NH-A	brain:	n/a
15	chr14:68068030-68068080	GM12878	blood:	n/a
16	chr14:68068030-68068080	HepG2	liver:	n/a
17	chr14:68068030-68068080	T-47D	breast:	n/a
18	chr14:68068030-68068080	Jurkat	blood:	n/a
19	chr14:68068030-68068080	Caco-2	colon:	n/a
20	chr14:68068030-68068080	SK-N-SH	brain:	n/a
21	chr14:68068030-68068080	AG09309	skin:	n/a
22	chr14:68068030-68068080	Hepatocyte	liver:	n/a
23	chr14:68068030-68068080	HL-60	blood:	n/a
24	chr14:68068030-68068080	HCT-116	colon:	n/a
25	chr14:68068030-68068080	ovcar-3	ovarian:	n/a
26	chr14:68068030-68068080	PANC-1	pancreas:	n/a
27	chr14:68068030-68068080	HCPEpiC	choroid plexus:	n/a
28	chr14:68068030-68068080	AG10803	skin:	n/a
29	chr14:68068030-68068080	HIPEpiC	eye:	n/a
30	chr14:68068030-68068080	HAEpiC	amniotic membrane:	n/a
31	chr14:68068030-68068080	HPAEpiC	pulmonary alveolar:	n/a
32	chr14:68068030-68068080	SKMC	muscle:	n/a
33	chr14:68068030-68068080	GM19239	blood:	n/a
34	chr14:68068030-68068080	H1-hESC	embryonic stem cell:	embryo
35	chr14:68068030-68068080	AG04449	skin:	fetal
36	chr14:68068030-68068080	NB4	blood:	n/a
37	chr14:68068030-68068080	HCF	heart:	n/a
38	chr14:68068030-68068080	RPTEC	kidney:	n/a
39	chr14:68068030-68068080	GM12891	blood:	n/a
40	chr14:68068030-68068080	GM12892	blood:	n/a
41	chr14:68068030-68068080	U87	brain:	n/a
42	chr14:68068030-68068080	HMEC	breast:	n/a
43	chr14:68068030-68068080	BE2_C	brain:	n/a
44	chr14:68068030-68068080	GM06990	blood:	n/a
45	chr14:68068030-68068080	ECC-1	luminal epithelium:	n/a
46	chr14:68068030-68068080	AG09319	gingival:	n/a
47	chr14:68068030-68068080	SAEC	small airway:	n/a
48	chr14:68068030-68068080	HCM	heart:	n/a
49	chr14:68068030-68068080	AG04450	lung:	fetal
50	chr14:68068030-68068080	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:68067053..68068566-chr14:68070076..68072471,2	K562	blood:
2	chr14:68067332..68069387-chr14:68160866..68162653,2	MCF-7	breast:
3	chr14:68066197..68068186-chr17:66090683..66092203,2	MCF-7	breast:
4	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
5	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
6	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
7	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:
8	chr14:68033912..68036171-chr14:68066958..68069605,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIGH	CpG island
ENSG00000266117	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10133858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849600	1.00[EUR][1000 genomes]
rs12892280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2234515	1.00[EUR][1000 genomes]
rs28417709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28521930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28629772	1.00[AMR][1000 genomes]
rs28705873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45462391	1.00[EUR][1000 genomes]
rs45584632	1.00[EUR][1000 genomes]
rs7154825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154887	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7160492	1.00[EUR][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68067400-68069400	Weak transcription	Fetal Kidney	kidney
3	chr14:68067400-68069800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:68067400-68069800	Weak transcription	Ovary	ovary
5	chr14:68067400-68070200	Weak transcription	Pancreas	Pancrea
6	chr14:68067400-68070400	Enhancers	Primary B cells from cord blood	blood
7	chr14:68067400-68070800	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:68067400-68071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:68067600-68069600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:68067600-68069800	Weak transcription	HepG2	liver
12	chr14:68067800-68068200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:68067800-68069800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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