Variant report

Variant	rs28661252
Chromosome Location	chr14:55752345-55752346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr14:55752068-55752448	K562	blood:	n/a	n/a
2	ZNF384	chr14:55752231-55752426	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:55750735..55753355-chr14:55793484..55796357,2	K562	blood:
2	chr14:55746310..55750691-chr14:55751454..55754283,3	MCF-7	breast:
3	chr14:55737502..55739699-chr14:55749789..55752392,3	K562	blood:
4	chr14:55737035..55739484-chr14:55751324..55753806,2	MCF-7	breast:
5	chr14:55741456..55743340-chr14:55751624..55753408,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239686	TF binding region
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000239686	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10130894	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134937	1.00[EUR][1000 genomes]
rs10135891	1.00[EUR][1000 genomes]
rs10138838	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10144869	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146943	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149926	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162552	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10220441	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10483640	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11844441	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379420	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128323	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17128370	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128434	1.00[EUR][1000 genomes]
rs17128438	0.86[EUR][1000 genomes]
rs2050669	1.00[EUR][1000 genomes]
rs2065998	1.00[EUR][1000 genomes]
rs2341536	1.00[EUR][1000 genomes]
rs28379450	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28787988	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2880104	0.88[ASN][1000 genomes]
rs28883964	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4334208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56042503	0.87[EUR][1000 genomes]
rs56102648	0.84[AMR][1000 genomes]
rs57612384	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59155162	0.87[EUR][1000 genomes]
rs60023093	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60204830	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61662514	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142831	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7145502	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7147172	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7148663	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148959	0.84[AMR][1000 genomes]
rs7153958	0.87[EUR][1000 genomes]
rs7155704	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7155729	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7160642	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7160753	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74050958	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74050963	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74050968	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74050975	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74053904	1.00[EUR][1000 genomes]
rs8007038	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010853	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8016444	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016716	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8021377	1.00[EUR][1000 genomes]
rs9323282	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs946058	1.00[EUR][1000 genomes]
rs9652341	0.85[AMR][1000 genomes];1.00[EUR][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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739000-55755600	Weak transcription	Gastric	stomach
2	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
4	chr14:55740200-55754200	Weak transcription	Hela-S3	cervix
5	chr14:55741000-55764600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:55741000-55773200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:55741200-55754000	Weak transcription	Fetal Brain Male	brain
8	chr14:55741800-55752400	Weak transcription	A549	lung
9	chr14:55741800-55763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:55741800-55763800	Weak transcription	NHEK	skin
11	chr14:55741800-55764600	Weak transcription	HMEC	breast
12	chr14:55742000-55765400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:55742200-55754000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:55742200-55754200	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:55742200-55754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:55742600-55754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:55742800-55754200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:55744000-55767800	Weak transcription	K562	blood
19	chr14:55744800-55754600	Weak transcription	HepG2	liver
20	chr14:55744800-55757800	Weak transcription	Fetal Intestine Large	intestine
21	chr14:55744800-55764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:55744800-55765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:55744800-55767800	Weak transcription	Pancreas	Pancrea
24	chr14:55745000-55761000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:55745000-55764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:55745000-55768400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:55745000-55774000	Weak transcription	Liver	Liver
28	chr14:55745200-55761000	Weak transcription	Thymus	Thymus
29	chr14:55745200-55764000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:55745200-55778400	Weak transcription	Fetal Thymus	thymus
31	chr14:55745400-55754400	Weak transcription	Brain Anterior Caudate	brain
32	chr14:55745400-55758400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:55745400-55759400	Weak transcription	Dnd41	blood
34	chr14:55745400-55764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:55745600-55754000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:55745600-55754000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:55745600-55754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:55745600-55761000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:55745600-55764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:55745600-55764200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:55745600-55764400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:55745600-55769200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:55745800-55765400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:55745800-55765400	Weak transcription	Fetal Stomach	stomach
45	chr14:55746400-55754000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:55746800-55764000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:55747200-55760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:55747400-55768400	Weak transcription	NHLF	lung
49	chr14:55748000-55753000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr14:55748000-55753400	Enhancers	Fetal Heart	heart

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