Variant report

Variant	rs73357401
Chromosome Location	chr14:105783627-105783628
allele	C/T
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:2)
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	ZNF263	chr14:105783278-105783702	HEK293-T-REx	kidney:	n/a	n/a
2	NR3C1	chr14:105783510-105783800	ECC-1	luminal epithelium:	n/a	n/a
3	NR3C1	chr14:105783462-105783720	ECC-1	luminal epithelium:	n/a	n/a
4	KAP1	chr14:105783400-105783684	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105783627-105783677	NHBE	bronchial:	n/a
2	chr14:105783627-105783677	HRE	kidney:	n/a
3	chr14:105783627-105783677	NH-A	brain:	n/a
4	chr14:105783627-105783677	ProgFib	skin:	n/a
5	chr14:105783627-105783677	AG04450	lung:	fetal
6	chr14:105783627-105783677	HCM	heart:	n/a
7	chr14:105783627-105783677	T-47D	breast:	n/a
8	chr14:105783627-105783677	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:105783627-105783677	GM06990	blood:	n/a
10	chr14:105783627-105783677	HCPEpiC	choroid plexus:	n/a
11	chr14:105783627-105783677	HMEC	breast:	n/a
12	chr14:105783627-105783677	HAEpiC	amniotic membrane:	n/a
13	chr14:105783627-105783677	AG10803	skin:	n/a
14	chr14:105783627-105783677	HEEpiC	esophagus:	n/a
15	chr14:105783627-105783677	SK-N-SH_RA	brain:	n/a
16	chr14:105783627-105783677	Jurkat	blood:	n/a
17	chr14:105783627-105783677	SK-N-MC	brain:	n/a
18	chr14:105783627-105783677	A549	lung:	n/a
19	chr14:105783627-105783677	NB4	blood:	n/a
20	chr14:105783627-105783677	ovcar-3	ovarian:	n/a
21	chr14:105783627-105783677	HUVEC	blood vessel:	n/a
22	chr14:105783627-105783677	CMK	blood:	n/a
23	chr14:105783627-105783677	MCF-7	breast:	n/a
24	chr14:105783627-105783677	PFSK-1	brain:	n/a
25	chr14:105783627-105783677	U87	brain:	n/a
26	chr14:105783627-105783677	AG04449	skin:	fetal
27	chr14:105783627-105783677	HCT-116	colon:	n/a
28	chr14:105783627-105783677	BE2_C	brain:	n/a
29	chr14:105783627-105783677	PANC-1	pancreas:	n/a
30	chr14:105783627-105783677	AG09309	skin:	n/a
31	chr14:105783627-105783677	GM12891	blood:	n/a
32	chr14:105783627-105783677	RPTEC	kidney:	n/a
33	chr14:105783627-105783677	Hepatocyte	liver:	n/a
34	chr14:105783627-105783677	HL-60	blood:	n/a
35	chr14:105783627-105783677	PrEC	prostate:	n/a
36	chr14:105783627-105783677	NT2-D1	testis:	n/a
37	chr14:105783627-105783677	GM19239	blood:	n/a
38	chr14:105783627-105783677	HRPEpiC	eye:	n/a
39	chr14:105783627-105783677	SK-N-SH	brain:	n/a
40	chr14:105783627-105783677	HepG2	liver:	n/a
41	chr14:105783627-105783677	K562	blood:	n/a
42	chr14:105783627-105783677	GM12878	blood:	n/a
43	chr14:105783627-105783677	LNCaP	prostate:	n/a
44	chr14:105783627-105783677	AG09319	gingival:	n/a
45	chr14:105783627-105783677	SAEC	small airway:	n/a
46	chr14:105783627-105783677	HCF	heart:	n/a
47	chr14:105783627-105783677	AoSMC	blood vessel:	n/a
48	chr14:105783627-105783677	SKMC	muscle:	n/a
49	chr14:105783627-105783677	HIPEpiC	eye:	n/a
50	chr14:105783627-105783677	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
2	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:

No data

Variant related genes	Relation type
BRF1	TF binding region
BRF1	CpG island
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28589825	1.00[EUR][1000 genomes]
rs60719574	1.00[EUR][1000 genomes]
rs73359029	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73359072	1.00[EUR][1000 genomes]
rs74090510	1.00[EUR][1000 genomes]
rs74090528	1.00[EUR][1000 genomes]
rs8021663	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription 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	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
19	esv1795042	chr14:105779305-105784680	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	esv1802313	chr14:105779305-105784680	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	esv1804257	chr14:105779305-105784680	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	esv1821473	chr14:105779305-105784680	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	esv1827230	chr14:105779305-105784680	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	esv1838589	chr14:105779305-105784680	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	esv1839784	chr14:105779305-105784680	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	esv1847835	chr14:105779305-105784680	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	nsv566193	chr14:105779305-105784680	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	nsv566197	chr14:105780507-105784680	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105781600-105784200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:105781800-105784000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:105781800-105784200	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr14:105781800-105784200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:105781800-105784400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:105782000-105784400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr14:105782200-105783800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:105782200-105784200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:105782200-105784200	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr14:105782200-105784400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:105782200-105784400	Enhancers	Aorta	Aorta
12	chr14:105782200-105784400	Flanking Active TSS	Fetal Brain Female	brain
13	chr14:105782200-105794800	Weak transcription	Small Intestine	intestine
14	chr14:105782400-105783800	Enhancers	Primary hematopoietic stem cells	blood
15	chr14:105782400-105784000	Enhancers	Fetal Heart	heart
16	chr14:105782400-105784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:105782400-105784400	Enhancers	Esophagus	oesophagus
18	chr14:105782400-105784400	Enhancers	Fetal Brain Male	brain
19	chr14:105782400-105784400	Enhancers	Fetal Lung	lung
20	chr14:105782400-105784400	Enhancers	Gastric	stomach
21	chr14:105782400-105784400	Enhancers	Left Ventricle	heart
22	chr14:105782400-105784400	Enhancers	Right Atrium	heart
23	chr14:105782400-105784400	Enhancers	Right Ventricle	heart
24	chr14:105782400-105784600	Enhancers	Placenta	Placenta
25	chr14:105782400-105784600	Enhancers	Spleen	Spleen
26	chr14:105782600-105783800	Flanking Active TSS	HepG2	liver
27	chr14:105782600-105784200	Enhancers	Fetal Stomach	stomach
28	chr14:105782600-105784200	Enhancers	Psoas Muscle	Psoas
29	chr14:105782600-105784400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:105782600-105784400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:105782600-105784400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:105782600-105784400	Enhancers	Lung	lung
33	chr14:105782600-105784400	Enhancers	Ovary	ovary
34	chr14:105782600-105784600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:105782600-105784600	Enhancers	Pancreas	Pancrea
36	chr14:105782600-105784600	Enhancers	GM12878-XiMat	blood
37	chr14:105782600-105793000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:105782600-105800000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:105782600-105807400	Weak transcription	Primary B cells from cord blood	blood
40	chr14:105782800-105784000	Enhancers	Hela-S3	cervix
41	chr14:105782800-105784000	Enhancers	NHEK	skin
42	chr14:105782800-105784200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:105782800-105784200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:105782800-105784400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:105782800-105784400	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:105782800-105784400	Enhancers	Fetal Muscle Leg	muscle
47	chr14:105782800-105784400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr14:105782800-105784400	Enhancers	HMEC	breast
49	chr14:105782800-105784400	Enhancers	NH-A	brain
50	chr14:105782800-105784600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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