Variant report

Variant	rs58939454
Chromosome Location	chr14:68000956-68000957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr14:67998962-68000967	HEK293-T-REx	kidney:	n/a	chr14:67999862-67999871

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68000922-68000972	SKMC	muscle:	n/a
2	chr14:68000922-68000972	Hepatocyte	liver:	n/a
3	chr14:68000922-68000972	A549	lung:	n/a
4	chr14:68000922-68000972	AoSMC	blood vessel:	n/a
5	chr14:68000922-68000972	NT2-D1	testis:	n/a
6	chr14:68000922-68000972	SK-N-SH	brain:	n/a
7	chr14:68000922-68000972	LNCaP	prostate:	n/a
8	chr14:68000922-68000972	GM06990	blood:	n/a
9	chr14:68000922-68000972	GM12891	blood:	n/a
10	chr14:68000922-68000972	CMK	blood:	n/a
11	chr14:68000922-68000972	RPTEC	kidney:	n/a
12	chr14:68000922-68000972	PANC-1	pancreas:	n/a
13	chr14:68000922-68000972	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:68000922-68000972	H1-hESC	embryonic stem cell:	embryo
15	chr14:68000922-68000972	GM12892	blood:	n/a
16	chr14:68000922-68000972	AG04449	skin:	fetal
17	chr14:68000922-68000972	GM12878	blood:	n/a
18	chr14:68000922-68000972	ProgFib	skin:	n/a
19	chr14:68000922-68000972	HCM	heart:	n/a
20	chr14:68000922-68000972	MCF-7	breast:	n/a
21	chr14:68000922-68000972	K562	blood:	n/a
22	chr14:68000922-68000972	AG10803	skin:	n/a
23	chr14:68000922-68000972	IMR90	lung:	fetal
24	chr14:68000922-68000972	PFSK-1	brain:	n/a
25	chr14:68000922-68000972	GM19239	blood:	n/a
26	chr14:68000922-68000972	HEEpiC	esophagus:	n/a
27	chr14:68000922-68000972	HCPEpiC	choroid plexus:	n/a
28	chr14:68000922-68000972	HCF	heart:	n/a
29	chr14:68000922-68000972	HMEC	breast:	n/a
30	chr14:68000922-68000972	HRE	kidney:	n/a
31	chr14:68000922-68000972	NHDF-neo	bronchial:	n/a
32	chr14:68000922-68000972	HEK293	kidney:	embryo
33	chr14:68000922-68000972	NHBE	bronchial:	n/a
34	chr14:68000922-68000972	AG09319	gingival:	n/a
35	chr14:68000922-68000972	HRPEpiC	eye:	n/a
36	chr14:68000922-68000972	BE2_C	brain:	n/a
37	chr14:68000922-68000972	Hela-S3	cervix:	n/a
38	chr14:68000922-68000972	Jurkat	blood:	n/a
39	chr14:68000922-68000972	SK-N-SH_RA	brain:	n/a
40	chr14:68000922-68000972	NH-A	brain:	n/a
41	chr14:68000922-68000972	HL-60	blood:	n/a
42	chr14:68000922-68000972	U87	brain:	n/a
43	chr14:68000922-68000972	HCT-116	colon:	n/a
44	chr14:68000922-68000972	HIPEpiC	eye:	n/a
45	chr14:68000922-68000972	HNPCEpiC	eye:	n/a
46	chr14:68000922-68000972	MCF10A-Er-Src	breast:	n/a
47	chr14:68000922-68000972	BJ	skin:	n/a
48	chr14:68000922-68000972	ovcar-3	ovarian:	n/a
49	chr14:68000922-68000972	NB4	blood:	n/a
50	chr14:68000922-68000972	PrEC	prostate:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67902911..67909562-chr14:67998675..68002742,8	MCF-7	breast:
2	chr14:68000136..68002027-chr14:68049030..68051645,2	K562	blood:
3	chr14:67998150..68002925-chr14:68034555..68041423,8	MCF-7	breast:
4	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
5	chr14:67954443..67956751-chr14:67999962..68001506,2	MCF-7	breast:
6	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:
7	chr14:67998411..68001693-chr14:68037282..68040664,3	K562	blood:
8	chr14:67999015..68003161-chr14:68029425..68040471,13	MCF-7	breast:
9	chr14:67998697..68001854-chr14:68041996..68045954,4	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM229B	TF binding region
TMEM229B	CpG island
ENSG00000265993	Chromatin interaction
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10483797	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60799856	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988220	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67999000-68001200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:67999200-68001000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:67999200-68001000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:67999200-68001000	Active TSS	Rectal Smooth Muscle	rectum
5	chr14:67999400-68001000	Active TSS	Fetal Intestine Large	intestine
6	chr14:67999400-68001000	Bivalent/Poised TSS	Fetal Stomach	stomach
7	chr14:67999400-68001000	Active TSS	Right Ventricle	heart
8	chr14:67999400-68001600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:67999400-68001800	Active TSS	Brain Angular Gyrus	brain
10	chr14:67999400-68002200	Active TSS	Brain Substantia Nigra	brain
11	chr14:67999400-68002600	Active TSS	Brain Anterior Caudate	brain
12	chr14:67999400-68002600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:67999600-68001000	Active TSS	Fetal Intestine Small	intestine
14	chr14:67999600-68001000	Active TSS	Hela-S3	cervix
15	chr14:67999600-68001200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:67999600-68001200	Active TSS	Duodenum Mucosa	Duodenum
17	chr14:67999600-68002400	Active TSS	Brain Cingulate Gyrus	brain
18	chr14:67999600-68002400	Active TSS	Brain Hippocampus Middle	brain
19	chr14:67999800-68001400	Active TSS	Colonic Mucosa	Colon
20	chr14:67999800-68002200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr14:68000400-68001000	Flanking Active TSS	Fetal Brain Female	brain
22	chr14:68000400-68001600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
24	chr14:68000600-68001000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr14:68000600-68001000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr14:68000600-68001000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:68000600-68001000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:68000600-68001000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr14:68000600-68001000	Active TSS	Stomach Smooth Muscle	stomach
30	chr14:68000600-68002800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:68000600-68005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:68000600-68007000	Weak transcription	Lung	lung
33	chr14:68000800-68001000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:68000800-68001000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr14:68000800-68001000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:68000800-68001000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:68000800-68001000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:68000800-68001000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:68000800-68001000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr14:68000800-68001000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:68000800-68001000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:68000800-68001000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:68000800-68001000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:68000800-68001000	Active TSS	Brain Germinal Matrix	brain
45	chr14:68000800-68001000	Enhancers	Colon Smooth Muscle	Colon
46	chr14:68000800-68001000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr14:68000800-68001000	Enhancers	Fetal Heart	heart
48	chr14:68000800-68001000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
49	chr14:68000800-68001000	Active TSS	Placenta	Placenta
50	chr14:68000800-68001000	Active TSS	Skeletal Muscle Male	skeletal muscle

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