Variant report

Variant	rs10147997
Chromosome Location	chr14:56264681-56264682
allele	A/C
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:3)
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	chr14:56264651-56264701	AG04449	skin:	fetal
2	chr14:56264651-56264701	HRPEpiC	eye:	n/a
3	chr14:56264651-56264701	MCF10A-Er-Src	breast:	n/a
4	chr14:56264651-56264701	PANC-1	pancreas:	n/a
5	chr14:56264651-56264701	HL-60	blood:	n/a
6	chr14:56264651-56264701	SKMC	muscle:	n/a
7	chr14:56264651-56264701	SK-N-MC	brain:	n/a
8	chr14:56264651-56264701	HCF	heart:	n/a
9	chr14:56264651-56264701	AG04450	lung:	fetal
10	chr14:56264651-56264701	GM12892	blood:	n/a
11	chr14:56264651-56264701	HepG2	liver:	n/a
12	chr14:56264651-56264701	GM12891	blood:	n/a
13	chr14:56264651-56264701	BE2_C	brain:	n/a
14	chr14:56264651-56264701	H1-hESC	embryonic stem cell:	embryo
15	chr14:56264651-56264701	HIPEpiC	eye:	n/a
16	chr14:56264651-56264701	HPAEpiC	pulmonary alveolar:	n/a
17	chr14:56264651-56264701	PFSK-1	brain:	n/a
18	chr14:56264651-56264701	NH-A	brain:	n/a
19	chr14:56264651-56264701	NT2-D1	testis:	n/a
20	chr14:56264651-56264701	RPTEC	kidney:	n/a
21	chr14:56264651-56264701	LNCaP	prostate:	n/a
22	chr14:56264651-56264701	HCT-116	colon:	n/a
23	chr14:56264651-56264701	HMEC	breast:	n/a
24	chr14:56264651-56264701	PrEC	prostate:	n/a
25	chr14:56264651-56264701	AoSMC	blood vessel:	n/a
26	chr14:56264651-56264701	AG10803	skin:	n/a
27	chr14:56264651-56264701	AG09309	skin:	n/a
28	chr14:56264651-56264701	CMK	blood:	n/a
29	chr14:56264651-56264701	NB4	blood:	n/a
30	chr14:56264651-56264701	U87	brain:	n/a
31	chr14:56264651-56264701	NHDF-neo	bronchial:	n/a
32	chr14:56264651-56264701	MCF-7	breast:	n/a
33	chr14:56264651-56264701	BJ	skin:	n/a
34	chr14:56264651-56264701	HCPEpiC	choroid plexus:	n/a
35	chr14:56264651-56264701	HEK293	kidney:	embryo
36	chr14:56264651-56264701	SK-N-SH	brain:	n/a
37	chr14:56264651-56264701	GM12878	blood:	n/a
38	chr14:56264651-56264701	Caco-2	colon:	n/a
39	chr14:56264651-56264701	HRE	kidney:	n/a
40	chr14:56264651-56264701	A549	lung:	n/a
41	chr14:56264651-56264701	Jurkat	blood:	n/a
42	chr14:56264651-56264701	ovcar-3	ovarian:	n/a
43	chr14:56264651-56264701	GM06990	blood:	n/a
44	chr14:56264651-56264701	AG09319	gingival:	n/a
45	chr14:56264651-56264701	HRCEpiC	kidney:	n/a
46	chr14:56264651-56264701	NHBE	bronchial:	n/a
47	chr14:56264651-56264701	ProgFib	skin:	n/a
48	chr14:56264651-56264701	Hela-S3	cervix:	n/a
49	chr14:56264651-56264701	T-47D	breast:	n/a
50	chr14:56264651-56264701	K562	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:56264106..56265769-chr14:56291458..56293554,2	MCF-7	breast:
2	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
3	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:

No data

Variant related genes	Relation type
LINC00520	CpG island

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10130136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140629	0.89[ASN][1000 genomes]
rs10142391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144024	0.89[ASN][1000 genomes]
rs10145894	0.89[ASN][1000 genomes]
rs28498087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520487	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28540836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153419	1.00[EUR][1000 genomes]
rs7154894	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257600-56271600	Weak transcription	Gastric	stomach
2	chr14:56261600-56265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:56261800-56267400	Weak transcription	NHEK	skin
4	chr14:56262000-56269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:56262200-56267600	Weak transcription	HMEC	breast
6	chr14:56262200-56269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:56262600-56265200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:56262600-56269600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:56263000-56267000	Weak transcription	Hela-S3	cervix
10	chr14:56263400-56266400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:56263600-56266800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:56263600-56268000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:56263800-56265000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:56263800-56266200	Weak transcription	HUVEC	blood vessel
15	chr14:56263800-56267200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:56263800-56267800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:56263800-56267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:56264000-56265200	Weak transcription	K562	blood
19	chr14:56264000-56267000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:56264000-56267800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:56264000-56267800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:56264400-56265000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:56264400-56266800	Enhancers	Fetal Intestine Small	intestine
24	chr14:56264600-56266800	Enhancers	Stomach Mucosa	stomach

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