Variant report

Variant	rs73267790
Chromosome Location	chr14:65015998-65015999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr14:65015787-65016676	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:65015764-65016119	IMR90	lung:	n/a	chr14:65015925-65015936
3	JUND	chr14:65015843-65016032	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:65015748-65016753	Hela-S3	cervix:	n/a	chr14:65015925-65015936
5	FOS	chr14:65015820-65016038	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr14:65015832-65016078	HepG2	liver:	n/a	chr14:65015979-65015993 chr14:65015976-65015991
7	CEBPB	chr14:65015808-65016025	H1-hESC	embryonic stem cell:	n/a	chr14:65015925-65015936
8	MAFK	chr14:65015949-65016077	HepG2	liver:	n/a	chr14:65015979-65015993 chr14:65015976-65015991
9	CEBPB	chr14:65015867-65016107	HepG2	liver:	n/a	chr14:65015925-65015936
10	FOS	chr14:65015767-65016082	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFK	chr14:65015787-65016232	Hela-S3	cervix:	n/a	chr14:65015979-65015993 chr14:65015976-65015991

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65015998-65016048	Hela-S3	cervix:	n/a
2	chr14:65015998-65016048	GM12878	blood:	n/a
3	chr14:65015998-65016048	SK-N-SH	brain:	n/a
4	chr14:65015998-65016048	PANC-1	pancreas:	n/a
5	chr14:65015998-65016048	Jurkat	blood:	n/a
6	chr14:65015998-65016048	AG04449	skin:	fetal
7	chr14:65015998-65016048	NH-A	brain:	n/a
8	chr14:65015998-65016048	PrEC	prostate:	n/a
9	chr14:65015998-65016048	ECC-1	luminal epithelium:	n/a
10	chr14:65015998-65016048	IMR90	lung:	fetal
11	chr14:65015998-65016048	HCM	heart:	n/a
12	chr14:65015998-65016048	NT2-D1	testis:	n/a
13	chr14:65015998-65016048	SKMC	muscle:	n/a
14	chr14:65015998-65016048	ProgFib	skin:	n/a
15	chr14:65015998-65016048	HCPEpiC	choroid plexus:	n/a
16	chr14:65015998-65016048	Caco-2	colon:	n/a
17	chr14:65015998-65016048	AG09309	skin:	n/a
18	chr14:65015998-65016048	SK-N-MC	brain:	n/a
19	chr14:65015998-65016048	AG09319	gingival:	n/a
20	chr14:65015998-65016048	LNCaP	prostate:	n/a
21	chr14:65015998-65016048	GM12892	blood:	n/a
22	chr14:65015998-65016048	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:65015998-65016048	PFSK-1	brain:	n/a
24	chr14:65015998-65016048	HIPEpiC	eye:	n/a
25	chr14:65015998-65016048	HEK293	kidney:	embryo
26	chr14:65015998-65016048	HepG2	liver:	n/a
27	chr14:65015998-65016048	GM19239	blood:	n/a
28	chr14:65015998-65016048	MCF10A-Er-Src	breast:	n/a
29	chr14:65015998-65016048	NHDF-neo	bronchial:	n/a
30	chr14:65015998-65016048	SAEC	small airway:	n/a
31	chr14:65015998-65016048	HUVEC	blood vessel:	n/a
32	chr14:65015998-65016048	GM06990	blood:	n/a
33	chr14:65015998-65016048	HMEC	breast:	n/a
34	chr14:65015998-65016048	GM12891	blood:	n/a
35	chr14:65015998-65016048	HCF	heart:	n/a
36	chr14:65015998-65016048	AG04450	lung:	fetal
37	chr14:65015998-65016048	HNPCEpiC	eye:	n/a
38	chr14:65015998-65016048	SK-N-SH_RA	brain:	n/a
39	chr14:65015998-65016048	BJ	skin:	n/a
40	chr14:65015998-65016048	HL-60	blood:	n/a
41	chr14:65015998-65016048	K562	blood:	n/a
42	chr14:65015998-65016048	HAEpiC	amniotic membrane:	n/a
43	chr14:65015998-65016048	HEEpiC	esophagus:	n/a
44	chr14:65015998-65016048	AoSMC	blood vessel:	n/a
45	chr14:65015998-65016048	HRCEpiC	kidney:	n/a
46	chr14:65015998-65016048	MCF-7	breast:	n/a
47	chr14:65015998-65016048	H1-hESC	embryonic stem cell:	embryo
48	chr14:65015998-65016048	RPTEC	kidney:	n/a
49	chr14:65015998-65016048	HRPEpiC	eye:	n/a
50	chr14:65015998-65016048	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
2	chr14:65006007..65010466-chr14:65011368..65016510,6	MCF-7	breast:
3	chr14:64971147..64972847-chr14:65015662..65018406,2	MCF-7	breast:
4	chr14:65015799..65018122-chr20:55818007..55820214,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R36	TF binding region
PPP1R36	CpG island
ENSG00000126803	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17857382	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45557336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58076807	1.00[AMR][1000 genomes]
rs58080394	1.00[AMR][1000 genomes]
rs60825477	1.00[AMR][1000 genomes]
rs61212101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61457510	1.00[AMR][1000 genomes]
rs61740636	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269707	1.00[AMR][1000 genomes]
rs73269729	1.00[AMR][1000 genomes]
rs73269736	1.00[AMR][1000 genomes]
rs73269785	1.00[AMR][1000 genomes]
rs73269788	1.00[AMR][1000 genomes]
rs73271614	1.00[AMR][1000 genomes]
rs73271619	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564907	chr14:65011509-65018663	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv12236	chr14:65014784-65020415	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv442343	chr14:65015653-65019529	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv564908	chr14:65015655-65017474	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv564909	chr14:65015655-65020267	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65008600-65016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:65009000-65016200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:65009400-65016600	Weak transcription	Gastric	stomach
4	chr14:65009600-65016200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:65010400-65016600	Weak transcription	Aorta	Aorta
6	chr14:65011400-65016000	Weak transcription	NHDF-Ad	bronchial
7	chr14:65011600-65016000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:65011600-65016000	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:65011600-65016000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:65011600-65016000	Weak transcription	NHLF	lung
11	chr14:65011600-65016200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:65012000-65016000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:65012000-65016200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:65012000-65016200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:65012000-65016600	Weak transcription	Brain Angular Gyrus	brain
16	chr14:65012200-65016000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:65013600-65016200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:65013800-65016600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:65015400-65016000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:65015400-65016200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:65015400-65016200	Enhancers	Brain Anterior Caudate	brain
22	chr14:65015400-65016200	Enhancers	Brain Substantia Nigra	brain
23	chr14:65015400-65016200	Enhancers	Hela-S3	cervix
24	chr14:65015400-65016200	Enhancers	NHEK	skin
25	chr14:65015600-65016000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:65015600-65016200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr14:65015600-65016200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:65015600-65016200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr14:65015600-65016400	Enhancers	Brain Hippocampus Middle	brain
30	chr14:65015600-65016400	Enhancers	Psoas Muscle	Psoas
31	chr14:65015800-65016000	Bivalent Enhancer	Primary T cells from cord blood	blood
32	chr14:65015800-65016200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr14:65015800-65016200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr14:65015800-65016200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:65015800-65016200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:65015800-65016200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:65015800-65016200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr14:65015800-65016200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:65015800-65016200	Enhancers	Stomach Mucosa	stomach
40	chr14:65015800-65016400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr14:65015800-65016400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:65015800-65016400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr14:65015800-65016400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:65015800-65016400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:65015800-65016400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:65015800-65016400	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr14:65015800-65016400	Enhancers	Fetal Intestine Small	intestine
48	chr14:65015800-65017200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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