Variant report

Variant	rs572802138
Chromosome Location	chr14:104687182-104687183
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:1)
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	chr14:104687182-104687232	HEEpiC	esophagus:	n/a
2	chr14:104687182-104687232	BJ	skin:	n/a
3	chr14:104687182-104687232	Caco-2	colon:	n/a
4	chr14:104687182-104687232	HRPEpiC	eye:	n/a
5	chr14:104687182-104687232	H1-hESC	embryonic stem cell:	embryo
6	chr14:104687182-104687232	NT2-D1	testis:	n/a
7	chr14:104687182-104687232	HIPEpiC	eye:	n/a
8	chr14:104687182-104687232	RPTEC	kidney:	n/a
9	chr14:104687182-104687232	PFSK-1	brain:	n/a
10	chr14:104687182-104687232	NHDF-neo	bronchial:	n/a
11	chr14:104687182-104687232	U87	brain:	n/a
12	chr14:104687182-104687232	AoSMC	blood vessel:	n/a
13	chr14:104687182-104687232	SKMC	muscle:	n/a
14	chr14:104687182-104687232	BE2_C	brain:	n/a
15	chr14:104687182-104687232	HL-60	blood:	n/a
16	chr14:104687182-104687232	A549	lung:	n/a
17	chr14:104687182-104687232	PrEC	prostate:	n/a
18	chr14:104687182-104687232	HCPEpiC	choroid plexus:	n/a
19	chr14:104687182-104687232	ovcar-3	ovarian:	n/a
20	chr14:104687182-104687232	SK-N-SH_RA	brain:	n/a
21	chr14:104687182-104687232	HCM	heart:	n/a
22	chr14:104687182-104687232	ProgFib	skin:	n/a
23	chr14:104687182-104687232	HCF	heart:	n/a
24	chr14:104687182-104687232	GM12892	blood:	n/a
25	chr14:104687182-104687232	HCT-116	colon:	n/a
26	chr14:104687182-104687232	AG09319	gingival:	n/a
27	chr14:104687182-104687232	NH-A	brain:	n/a
28	chr14:104687182-104687232	LNCaP	prostate:	n/a
29	chr14:104687182-104687232	T-47D	breast:	n/a
30	chr14:104687182-104687232	NB4	blood:	n/a
31	chr14:104687182-104687232	PANC-1	pancreas:	n/a
32	chr14:104687182-104687232	MCF-7	breast:	n/a
33	chr14:104687182-104687232	AG09309	skin:	n/a
34	chr14:104687182-104687232	SAEC	small airway:	n/a
35	chr14:104687182-104687232	Hela-S3	cervix:	n/a
36	chr14:104687182-104687232	AG10803	skin:	n/a
37	chr14:104687182-104687232	SK-N-SH	brain:	n/a
38	chr14:104687182-104687232	HMEC	breast:	n/a
39	chr14:104687182-104687232	GM06990	blood:	n/a
40	chr14:104687182-104687232	MCF10A-Er-Src	breast:	n/a
41	chr14:104687182-104687232	Hepatocyte	liver:	n/a
42	chr14:104687182-104687232	CMK	blood:	n/a
43	chr14:104687182-104687232	HEK293	kidney:	embryo
44	chr14:104687182-104687232	K562	blood:	n/a
45	chr14:104687182-104687232	HRE	kidney:	n/a
46	chr14:104687182-104687232	GM12878	blood:	n/a
47	chr14:104687182-104687232	AG04450	lung:	fetal
48	chr14:104687182-104687232	GM12891	blood:	n/a
49	chr14:104687182-104687232	HUVEC	blood vessel:	n/a
50	chr14:104687182-104687232	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104581651..104584386-chr14:104687034..104688620,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258913	CpG island
ENSG00000207568	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050479	chr14:104500427-104805738	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv902331	chr14:104523839-104849219	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1044920	chr14:104528663-104803058	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv470674	chr14:104545284-104710505	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv902345	chr14:104554044-104865071	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS 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
6	esv1826669	chr14:104554461-105065941	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1047665	chr14:104577600-104787620	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1049810	chr14:104577600-105060539	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv542214	chr14:104600431-104694456	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1041696	chr14:104614589-104798502	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1048001	chr14:104632614-104895474	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv456436	chr14:104657760-104769149	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv566032	chr14:104657760-104769149	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv566033	chr14:104666821-104747384	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv902356	chr14:104686346-104758887	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104682000-104688400	Weak transcription	Pancreas	Pancrea
2	chr14:104684200-104687200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104684200-104687800	Enhancers	Fetal Brain Female	brain
4	chr14:104684600-104687400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:104684600-104689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr14:104685000-104689200	Weak transcription	Ovary	ovary
7	chr14:104685200-104689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:104686000-104687200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:104686000-104687400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:104686000-104687800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr14:104686000-104688800	Enhancers	Fetal Brain Male	brain
12	chr14:104686200-104687800	Enhancers	Fetal Lung	lung
13	chr14:104686200-104688400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr14:104686200-104690800	Enhancers	Brain Germinal Matrix	brain
15	chr14:104686400-104687200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:104686400-104687200	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr14:104686400-104687800	Enhancers	Spleen	Spleen
18	chr14:104686400-104689600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr14:104686600-104687200	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr14:104686800-104687400	Bivalent Enhancer	Placenta	Placenta
21	chr14:104686800-104687400	Enhancers	Right Ventricle	heart
22	chr14:104686800-104689400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:104686800-104689400	Weak transcription	Fetal Heart	heart
24	chr14:104686800-104689800	Weak transcription	Right Atrium	heart
25	chr14:104687000-104687200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr14:104687000-104689400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:104687000-104692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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