Variant report

Variant	rs58458194
Chromosome Location	chr14:55755640-55755641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55747841..55751316-chr14:55753172..55757171,4	K562	blood:
2	chr14:55738930..55742893-chr14:55754578..55757898,4	K562	blood:
3	chr14:55746731..55750149-chr14:55754449..55758137,4	K562	blood:
4	chr14:55738930..55742893-chr14:55754578..55758061,4	K562	blood:
5	chr14:55737955..55739932-chr14:55755317..55756885,2	MCF-7	breast:
6	chr14:55736741..55738346-chr14:55754285..55755946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239686	Chromatin interaction
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10129505	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10131730	0.81[ASN][1000 genomes]
rs10132453	0.81[ASN][1000 genomes]
rs10134317	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10139083	0.94[ASN][1000 genomes]
rs10139337	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10139678	0.82[ASN][1000 genomes]
rs10139683	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10140063	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10140869	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10141396	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10141552	0.94[ASN][1000 genomes]
rs10142803	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143136	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144418	0.81[ASN][1000 genomes]
rs10145203	0.93[ASN][1000 genomes]
rs10146637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1045002	0.81[ASN][1000 genomes]
rs11158034	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158037	0.81[ASN][1000 genomes]
rs11625001	0.96[ASN][1000 genomes]
rs11625423	0.93[ASN][1000 genomes]
rs11628437	0.93[ASN][1000 genomes]
rs11848456	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11848575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11851169	0.81[ASN][1000 genomes]
rs12050099	0.99[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12050123	0.80[ASN][1000 genomes]
rs13379169	0.81[ASN][1000 genomes]
rs17672058	0.82[EUR][1000 genomes]
rs17672364	0.92[EUR][1000 genomes]
rs17740551	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17740741	0.99[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17741542	0.86[ASN][1000 genomes]
rs17741831	0.81[ASN][1000 genomes]
rs1972221	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2026633	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2094436	0.82[EUR][1000 genomes]
rs2147970	0.82[EUR][1000 genomes]
rs2209808	0.84[ASN][1000 genomes]
rs2297816	0.81[ASN][1000 genomes]
rs2340936	0.82[EUR][1000 genomes]
rs28430823	0.81[ASN][1000 genomes]
rs28504448	0.85[ASN][1000 genomes]
rs28612464	0.81[ASN][1000 genomes]
rs2880103	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35112084	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742569	0.81[ASN][1000 genomes]
rs3759667	0.81[EUR][1000 genomes]
rs3825614	0.96[EUR][1000 genomes]
rs4040064	0.90[EUR][1000 genomes]
rs4366639	0.92[ASN][1000 genomes]
rs4496026	0.92[ASN][1000 genomes]
rs4525413	0.81[EUR][1000 genomes]
rs4580079	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56166765	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56949365	0.90[ASN][1000 genomes]
rs58260073	0.94[ASN][1000 genomes]
rs58269011	0.90[EUR][1000 genomes]
rs58296156	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59629906	0.93[ASN][1000 genomes]
rs59871474	0.90[ASN][1000 genomes]
rs60248556	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs66464079	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66476033	0.82[EUR][1000 genomes]
rs66551709	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66696758	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs67008693	0.91[EUR][1000 genomes]
rs67092614	0.82[EUR][1000 genomes]
rs67215571	0.82[EUR][1000 genomes]
rs67386901	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67416413	0.91[EUR][1000 genomes]
rs67514154	0.95[ASN][1000 genomes]
rs67588230	0.82[EUR][1000 genomes]
rs67795323	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67822108	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67958555	0.82[EUR][1000 genomes]
rs68046603	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs68138420	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140628	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7146748	0.81[ASN][1000 genomes]
rs7147247	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7150234	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7150763	0.81[ASN][1000 genomes]
rs7151581	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7151754	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7152390	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153612	0.94[ASN][1000 genomes]
rs7153645	0.94[ASN][1000 genomes]
rs7154796	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154831	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7157308	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158791	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7158861	0.90[ASN][1000 genomes]
rs7159824	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72715769	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73263927	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8005117	0.96[EUR][1000 genomes]
rs8005450	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8014477	0.80[ASN][1000 genomes]
rs8014540	0.80[ASN][1000 genomes]
rs8015211	0.80[ASN][1000 genomes]
rs8021583	0.96[ASN][1000 genomes]
rs9919923	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9919926	0.81[ASN][1000 genomes]
rs9919932	0.80[EUR][1000 genomes];0.82[ASN][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
3	chr14:55741000-55764600	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:55741000-55773200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55741800-55763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:55741800-55763800	Weak transcription	NHEK	skin
7	chr14:55741800-55764600	Weak transcription	HMEC	breast
8	chr14:55742000-55765400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:55744000-55767800	Weak transcription	K562	blood
10	chr14:55744800-55757800	Weak transcription	Fetal Intestine Large	intestine
11	chr14:55744800-55764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:55744800-55765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:55744800-55767800	Weak transcription	Pancreas	Pancrea
14	chr14:55745000-55761000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:55745000-55764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:55745000-55768400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:55745000-55774000	Weak transcription	Liver	Liver
18	chr14:55745200-55761000	Weak transcription	Thymus	Thymus
19	chr14:55745200-55764000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:55745200-55778400	Weak transcription	Fetal Thymus	thymus
21	chr14:55745400-55758400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:55745400-55759400	Weak transcription	Dnd41	blood
23	chr14:55745400-55764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:55745600-55761000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:55745600-55764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:55745600-55764200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:55745600-55764400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:55745600-55769200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:55745800-55765400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr14:55745800-55765400	Weak transcription	Fetal Stomach	stomach
31	chr14:55746800-55764000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:55747200-55760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:55747400-55768400	Weak transcription	NHLF	lung
34	chr14:55748000-55759200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:55748000-55770000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:55748400-55759200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:55749200-55756800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:55749400-55760800	Weak transcription	GM12878-XiMat	blood
39	chr14:55749400-55769800	Weak transcription	Primary B cells from cord blood	blood
40	chr14:55751600-55761400	Weak transcription	Small Intestine	intestine
41	chr14:55751600-55765200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:55752000-55765200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:55752000-55765400	Weak transcription	Fetal Intestine Small	intestine
44	chr14:55752200-55758400	Weak transcription	Right Atrium	heart
45	chr14:55752200-55760000	Weak transcription	Esophagus	oesophagus
46	chr14:55752200-55760600	Weak transcription	Ovary	ovary
47	chr14:55752200-55764400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:55752200-55765200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:55752200-55765200	Weak transcription	Lung	lung
50	chr14:55752400-55763200	Weak transcription	Left Ventricle	heart

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