Variant report

Variant	rs28649056
Chromosome Location	chr14:105851570-105851571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105851564-105851614	HCPEpiC	choroid plexus:	n/a
2	chr14:105851564-105851614	Hela-S3	cervix:	n/a
3	chr14:105851564-105851614	HNPCEpiC	eye:	n/a
4	chr14:105851564-105851614	BJ	skin:	n/a
5	chr14:105851564-105851614	A549	lung:	n/a
6	chr14:105851564-105851614	GM12891	blood:	n/a
7	chr14:105851564-105851614	HRCEpiC	kidney:	n/a
8	chr14:105851564-105851614	RPTEC	kidney:	n/a
9	chr14:105851564-105851614	ovcar-3	ovarian:	n/a
10	chr14:105851564-105851614	Jurkat	blood:	n/a
11	chr14:105851564-105851614	Caco-2	colon:	n/a
12	chr14:105851564-105851614	HAEpiC	amniotic membrane:	n/a
13	chr14:105851564-105851614	AoSMC	blood vessel:	n/a
14	chr14:105851564-105851614	GM06990	blood:	n/a
15	chr14:105851564-105851614	AG09319	gingival:	n/a
16	chr14:105851564-105851614	Hepatocyte	liver:	n/a
17	chr14:105851564-105851614	HCT-116	colon:	n/a
18	chr14:105851564-105851614	PANC-1	pancreas:	n/a
19	chr14:105851564-105851614	SK-N-MC	brain:	n/a
20	chr14:105851564-105851614	IMR90	lung:	fetal
21	chr14:105851564-105851614	HCM	heart:	n/a
22	chr14:105851564-105851614	GM19239	blood:	n/a
23	chr14:105851564-105851614	NB4	blood:	n/a
24	chr14:105851564-105851614	HRPEpiC	eye:	n/a
25	chr14:105851564-105851614	HRE	kidney:	n/a
26	chr14:105851564-105851614	AG04449	skin:	fetal
27	chr14:105851564-105851614	HepG2	liver:	n/a
28	chr14:105851564-105851614	NHBE	bronchial:	n/a
29	chr14:105851564-105851614	HEEpiC	esophagus:	n/a
30	chr14:105851564-105851614	NT2-D1	testis:	n/a
31	chr14:105851564-105851614	PrEC	prostate:	n/a
32	chr14:105851564-105851614	ECC-1	luminal epithelium:	n/a
33	chr14:105851564-105851614	HL-60	blood:	n/a
34	chr14:105851564-105851614	K562	blood:	n/a
35	chr14:105851564-105851614	SKMC	muscle:	n/a
36	chr14:105851564-105851614	AG10803	skin:	n/a
37	chr14:105851564-105851614	GM12878	blood:	n/a
38	chr14:105851564-105851614	HIPEpiC	eye:	n/a
39	chr14:105851564-105851614	BE2_C	brain:	n/a
40	chr14:105851564-105851614	T-47D	breast:	n/a
41	chr14:105851564-105851614	HMEC	breast:	n/a
42	chr14:105851564-105851614	H1-hESC	embryonic stem cell:	embryo
43	chr14:105851564-105851614	MCF-7	breast:	n/a
44	chr14:105851564-105851614	AG04450	lung:	fetal
45	chr14:105851564-105851614	SK-N-SH	brain:	n/a
46	chr14:105851564-105851614	MCF10A-Er-Src	breast:	n/a
47	chr14:105851564-105851614	PFSK-1	brain:	n/a
48	chr14:105851564-105851614	LNCaP	prostate:	n/a
49	chr14:105851564-105851614	AG09309	skin:	n/a
50	chr14:105851564-105851614	CMK	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105850154..105854884-chr14:105855673..105862335,7	K562	blood:
2	chr14:105851322..105853436-chr14:105876426..105879103,2	MCF-7	breast:
3	chr14:105843352..105844897-chr14:105851153..105852761,2	MCF-7	breast:
4	chr14:105849372..105852249-chr14:105863098..105866090,2	K562	blood:
5	chr14:105851318..105853845-chr14:105854475..105857173,2	K562	blood:

No data

Variant related genes	Relation type
PACS2	CpG island
ENSG00000179364	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000256498	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11847920	0.80[YRI][hapmap]
rs73361071	0.89[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105823600-105863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105831000-105863800	Weak transcription	Fetal Kidney	kidney
3	chr14:105831400-105864000	Weak transcription	Osteobl	bone
4	chr14:105831600-105855200	Strong transcription	Fetal Stomach	stomach
5	chr14:105831600-105863200	Weak transcription	NHDF-Ad	bronchial
6	chr14:105837800-105855200	Weak transcription	HSMM	muscle
7	chr14:105842200-105852600	Weak transcription	NHEK	skin
8	chr14:105842600-105856000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:105842800-105854600	Weak transcription	Primary B cells from cord blood	blood
10	chr14:105842800-105855200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:105842800-105855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:105842800-105856400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:105842800-105856400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:105843200-105854200	Strong transcription	Brain Hippocampus Middle	brain
15	chr14:105844000-105855200	Strong transcription	Brain Cingulate Gyrus	brain
16	chr14:105844400-105854400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr14:105844400-105856200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:105844400-105862400	Strong transcription	Brain Germinal Matrix	brain
19	chr14:105844400-105862800	Strong transcription	Fetal Intestine Small	intestine
20	chr14:105844600-105854200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:105844800-105857000	Weak transcription	Stomach Mucosa	stomach
22	chr14:105845000-105852000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:105845000-105854200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:105845200-105855000	Strong transcription	Spleen	Spleen
25	chr14:105845200-105857200	Strong transcription	Right Ventricle	heart
26	chr14:105845200-105862600	Strong transcription	Fetal Brain Female	brain
27	chr14:105845400-105851600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:105845400-105853800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:105845400-105854000	Strong transcription	Brain Substantia Nigra	brain
30	chr14:105845400-105855800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:105845600-105852400	Strong transcription	Adipose Nuclei	Adipose
32	chr14:105845600-105854800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:105845600-105854800	Strong transcription	Gastric	stomach
34	chr14:105845600-105855600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr14:105845600-105860800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:105845800-105855400	Strong transcription	Fetal Intestine Large	intestine
37	chr14:105845800-105855600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:105845800-105855600	Strong transcription	Lung	lung
39	chr14:105846000-105852600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:105846000-105852800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:105846000-105854200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:105846000-105854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:105846000-105854600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:105846000-105855200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:105846000-105855200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:105846200-105851600	Strong transcription	Dnd41	blood
47	chr14:105846200-105852600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:105846200-105854200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr14:105846200-105854200	Strong transcription	Ovary	ovary
50	chr14:105846200-105854400	Strong transcription	Brain Anterior Caudate	brain

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