Variant report

Variant	rs192923777
Chromosome Location	chr14:104551556-104551557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr14:104551295-104551756	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:104551440-104551590	SAEC	small airway:	n/a	n/a
3	CTCF	chr14:104551524-104551744	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:104551526-104551644	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr14:104551299-104551742	H1-hESC	embryonic stem cell:	n/a	chr14:104551690-104551700 chr14:104551514-104551525
6	MAX	chr14:104551334-104551789	H1-hESC	embryonic stem cell:	n/a	chr14:104551690-104551700 chr14:104551514-104551525
7	CTCF	chr14:104551527-104551762	K562	blood:	n/a	n/a
8	RAD21	chr14:104551493-104551740	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104551553-104551603	IMR90	lung:	fetal
2	chr14:104551553-104551603	Jurkat	blood:	n/a
3	chr14:104551553-104551603	HMEC	breast:	n/a
4	chr14:104551553-104551603	H1-hESC	embryonic stem cell:	embryo
5	chr14:104551553-104551603	HCM	heart:	n/a
6	chr14:104551553-104551603	HCPEpiC	choroid plexus:	n/a
7	chr14:104551553-104551603	HIPEpiC	eye:	n/a
8	chr14:104551553-104551603	SK-N-SH	brain:	n/a
9	chr14:104551553-104551603	GM12892	blood:	n/a
10	chr14:104551553-104551603	K562	blood:	n/a
11	chr14:104551553-104551603	GM19239	blood:	n/a
12	chr14:104551553-104551603	HRE	kidney:	n/a
13	chr14:104551553-104551603	AG09309	skin:	n/a
14	chr14:104551553-104551603	PrEC	prostate:	n/a
15	chr14:104551553-104551603	HUVEC	blood vessel:	n/a
16	chr14:104551553-104551603	Hela-S3	cervix:	n/a
17	chr14:104551553-104551603	Hepatocyte	liver:	n/a
18	chr14:104551553-104551603	ProgFib	skin:	n/a
19	chr14:104551553-104551603	HRPEpiC	eye:	n/a
20	chr14:104551553-104551603	BJ	skin:	n/a
21	chr14:104551553-104551603	BE2_C	brain:	n/a
22	chr14:104551553-104551603	HCT-116	colon:	n/a
23	chr14:104551553-104551603	MCF10A-Er-Src	breast:	n/a
24	chr14:104551553-104551603	NHDF-neo	bronchial:	n/a
25	chr14:104551553-104551603	ovcar-3	ovarian:	n/a
26	chr14:104551553-104551603	PFSK-1	brain:	n/a
27	chr14:104551553-104551603	GM06990	blood:	n/a
28	chr14:104551553-104551603	Caco-2	colon:	n/a
29	chr14:104551553-104551603	NHBE	bronchial:	n/a
30	chr14:104551553-104551603	RPTEC	kidney:	n/a
31	chr14:104551553-104551603	A549	lung:	n/a
32	chr14:104551553-104551603	AG10803	skin:	n/a
33	chr14:104551553-104551603	T-47D	breast:	n/a
34	chr14:104551553-104551603	NB4	blood:	n/a
35	chr14:104551553-104551603	AG04450	lung:	fetal
36	chr14:104551553-104551603	AoSMC	blood vessel:	n/a
37	chr14:104551553-104551603	GM12891	blood:	n/a
38	chr14:104551553-104551603	LNCaP	prostate:	n/a
39	chr14:104551553-104551603	NH-A	brain:	n/a
40	chr14:104551553-104551603	NT2-D1	testis:	n/a
41	chr14:104551553-104551603	HRCEpiC	kidney:	n/a
42	chr14:104551553-104551603	HPAEpiC	pulmonary alveolar:	n/a
43	chr14:104551553-104551603	SK-N-MC	brain:	n/a
44	chr14:104551553-104551603	MCF-7	breast:	n/a
45	chr14:104551553-104551603	HNPCEpiC	eye:	n/a
46	chr14:104551553-104551603	PANC-1	pancreas:	n/a
47	chr14:104551553-104551603	HAEpiC	amniotic membrane:	n/a
48	chr14:104551553-104551603	CMK	blood:	n/a
49	chr14:104551553-104551603	HEK293	kidney:	embryo
50	chr14:104551553-104551603	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:104545223..104554915-chr14:104580388..104589598,19	MCF-7	breast:
2	chr14:104550379..104556575-chr14:104558618..104564277,9	MCF-7	breast:
3	chr14:104541403..104547183-chr14:104547881..104551718,5	MCF-7	breast:

No data

Variant related genes	Relation type
ASPG	TF binding region
ASPG	CpG island
ENSG00000166183	Chromatin interaction
ENSG00000207568	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
4	nsv1049690	chr14:104411621-104575838	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv542208	chr14:104411621-104575838	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv526680	chr14:104427043-104568472	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1047990	chr14:104460605-104556463	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	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
9	esv1806632	chr14:104516262-104640011	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
10	nsv427946	chr14:104522565-104680785	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv902325	chr14:104523839-104624689	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
12	nsv902326	chr14:104523839-104627198	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
13	nsv902327	chr14:104523839-104630711	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
14	nsv902328	chr14:104523839-104646326	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902329	chr14:104523839-104656659	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv902330	chr14:104523839-104662533	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv902332	chr14:104534574-104646326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
20	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
21	nsv902333	chr14:104545285-104624689	Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
22	nsv902334	chr14:104545285-104662533	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
23	nsv902335	chr14:104545285-104670212	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
24	nsv902336	chr14:104546893-104608068	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
25	nsv902337	chr14:104546893-104624914	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
26	nsv902338	chr14:104546893-104627198	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
27	nsv902339	chr14:104546893-104636584	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
28	nsv519605	chr14:104546893-104657760	Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription 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	36 gene(s)	inside rSNPs	diseases
29	nsv902340	chr14:104546893-104662533	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	esv3408848	chr14:104550624-104553572	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv3330983	chr14:104550899-104552997	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv3372929	chr14:104551399-104552597	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104548400-104552200	Enhancers	Stomach Mucosa	stomach
2	chr14:104549000-104552200	Bivalent Enhancer	Placenta	Placenta
3	chr14:104549600-104554000	Weak transcription	Pancreas	Pancrea
4	chr14:104550200-104552000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:104550200-104552200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr14:104550600-104551800	Enhancers	Right Ventricle	heart
7	chr14:104550600-104552000	Enhancers	Left Ventricle	heart
8	chr14:104550800-104551800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr14:104550800-104552000	Enhancers	Liver	Liver
10	chr14:104550800-104555200	Enhancers	Gastric	stomach
11	chr14:104551000-104551600	Flanking Active TSS	Ovary	ovary
12	chr14:104551200-104551600	Enhancers	Fetal Lung	lung
13	chr14:104551200-104551600	Enhancers	Right Atrium	heart
14	chr14:104551200-104551800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:104551200-104552000	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr14:104551200-104552200	Enhancers	Fetal Heart	heart
17	chr14:104551200-104555000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr14:104551400-104551600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
19	chr14:104551400-104551600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:104551400-104551600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:104551400-104551600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr14:104551400-104551600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
23	chr14:104551400-104551600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr14:104551400-104551600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
25	chr14:104551400-104551600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr14:104551400-104551600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr14:104551400-104551600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr14:104551400-104552000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:104551400-104552000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:104551400-104552000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:104551400-104552000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:104551400-104552000	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr14:104551400-104552000	Enhancers	Spleen	Spleen
34	chr14:104551400-104552200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr14:104551400-104552200	Enhancers	Lung	lung
36	chr14:104551400-104552400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr14:104551400-104552400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr14:104551400-104555000	Enhancers	Sigmoid Colon	Sigmoid Colon

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