Variant report

Variant	rs72723147
Chromosome Location	chr14:68162955-68162956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:68161295-68163145	SK-N-SH	brain:	n/a	n/a
2	HCFC1	chr14:68161292-68163357	Hela-S3	cervix:	n/a	n/a
3	GATA2	chr14:68161561-68163121	SH-SY5Y	brain:	n/a	n/a
4	MXI1	chr14:68161300-68163176	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68162924-68162974	MCF-7	breast:	n/a
2	chr14:68162924-68162974	NB4	blood:	n/a
3	chr14:68162924-68162974	SKMC	muscle:	n/a
4	chr14:68162924-68162974	AG04450	lung:	fetal
5	chr14:68162924-68162974	HAEpiC	amniotic membrane:	n/a
6	chr14:68162924-68162974	GM06990	blood:	n/a
7	chr14:68162924-68162974	RPTEC	kidney:	n/a
8	chr14:68162924-68162974	LNCaP	prostate:	n/a
9	chr14:68162924-68162974	GM12891	blood:	n/a
10	chr14:68162924-68162974	HCM	heart:	n/a
11	chr14:68162924-68162974	GM19239	blood:	n/a
12	chr14:68162924-68162974	NHDF-neo	bronchial:	n/a
13	chr14:68162924-68162974	SK-N-MC	brain:	n/a
14	chr14:68162924-68162974	AG04449	skin:	fetal
15	chr14:68162924-68162974	NT2-D1	testis:	n/a
16	chr14:68162924-68162974	ovcar-3	ovarian:	n/a
17	chr14:68162924-68162974	MCF10A-Er-Src	breast:	n/a
18	chr14:68162924-68162974	HEEpiC	esophagus:	n/a
19	chr14:68162924-68162974	AG10803	skin:	n/a
20	chr14:68162924-68162974	U87	brain:	n/a
21	chr14:68162924-68162974	HL-60	blood:	n/a
22	chr14:68162924-68162974	H1-hESC	embryonic stem cell:	embryo
23	chr14:68162924-68162974	HRCEpiC	kidney:	n/a
24	chr14:68162924-68162974	Jurkat	blood:	n/a
25	chr14:68162924-68162974	PANC-1	pancreas:	n/a
26	chr14:68162924-68162974	ECC-1	luminal epithelium:	n/a
27	chr14:68162924-68162974	HUVEC	blood vessel:	n/a
28	chr14:68162924-68162974	HepG2	liver:	n/a
29	chr14:68162924-68162974	Hepatocyte	liver:	n/a
30	chr14:68162924-68162974	BE2_C	brain:	n/a
31	chr14:68162924-68162974	Hela-S3	cervix:	n/a
32	chr14:68162924-68162974	HRE	kidney:	n/a
33	chr14:68162924-68162974	SAEC	small airway:	n/a
34	chr14:68162924-68162974	HEK293	kidney:	embryo
35	chr14:68162924-68162974	HMEC	breast:	n/a
36	chr14:68162924-68162974	GM12892	blood:	n/a
37	chr14:68162924-68162974	BJ	skin:	n/a
38	chr14:68162924-68162974	HRPEpiC	eye:	n/a
39	chr14:68162924-68162974	T-47D	breast:	n/a
40	chr14:68162924-68162974	HCT-116	colon:	n/a
41	chr14:68162924-68162974	NH-A	brain:	n/a
42	chr14:68162924-68162974	SK-N-SH_RA	brain:	n/a
43	chr14:68162924-68162974	HIPEpiC	eye:	n/a
44	chr14:68162924-68162974	CMK	blood:	n/a
45	chr14:68162924-68162974	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:68162924-68162974	HCPEpiC	choroid plexus:	n/a
47	chr14:68162924-68162974	ProgFib	skin:	n/a
48	chr14:68162924-68162974	A549	lung:	n/a
49	chr14:68162924-68162974	AG09309	skin:	n/a
50	chr14:68162924-68162974	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:68085007..68087641-chr14:68161734..68163830,3	MCF-7	breast:
2	chr14:68153591..68158250-chr14:68160092..68166006,8	K562	blood:
3	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
4	chr14:68160775..68162955-chr14:68189017..68191227,2	MCF-7	breast:
5	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
6	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:
7	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
8	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:
9	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
10	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
11	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
12	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
13	chr14:68082006..68084010-chr14:68160991..68163508,2	MCF-7	breast:

No data

Variant related genes	Relation type
RDH11	TF binding region
RDH11	CpG island
ENSG00000139988	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2234508	1.00[AFR][1000 genomes]
rs56136087	0.92[AMR][1000 genomes]
rs7152299	1.00[ASN][1000 genomes]
rs72723174	1.00[ASN][1000 genomes]
rs72723183	1.00[ASN][1000 genomes]
rs72723189	1.00[ASN][1000 genomes]
rs72723194	1.00[ASN][1000 genomes]
rs72725134	1.00[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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr14:68162400-68163000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:68162600-68163000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:68162600-68163000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:68162600-68163200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:68162600-68163200	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:68162600-68163400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr14:68162600-68163800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68162600-68163800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:68162600-68164400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:68162600-68166200	Enhancers	Liver	Liver
11	chr14:68162600-68167000	Weak transcription	Osteobl	bone
12	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
13	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:68162800-68163000	Enhancers	Brain Cingulate Gyrus	brain
15	chr14:68162800-68163000	Enhancers	Brain Germinal Matrix	brain
16	chr14:68162800-68163200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:68162800-68163200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:68162800-68163200	Enhancers	Brain Angular Gyrus	brain
19	chr14:68162800-68163200	Enhancers	Esophagus	oesophagus
20	chr14:68162800-68163200	Enhancers	Pancreas	Pancrea
21	chr14:68162800-68163200	Enhancers	Right Ventricle	heart
22	chr14:68162800-68163200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:68162800-68163200	Enhancers	Hela-S3	cervix
24	chr14:68162800-68163200	Flanking Active TSS	HepG2	liver
25	chr14:68162800-68164000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:68162800-68171000	Weak transcription	A549	lung
27	chr14:68162800-68171200	Weak transcription	K562	blood

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