Variant report

Variant	rs73257371
Chromosome Location	chr14:31785743-31785744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31677046..31680336-chr14:31784092..31787188,3	K562	blood:
2	chr14:31784409..31786854-chr14:31787339..31791059,3	MCF-7	breast:
3	chr14:31677046..31680336-chr14:31784092..31788238,4	K562	blood:
4	chr14:31675817..31678526-chr14:31784194..31789174,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs61734972	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253163	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257381	1.00[AMR][1000 genomes]
rs73259617	1.00[AMR][1000 genomes]
rs73265475	1.00[AMR][1000 genomes]
rs73265483	1.00[AMR][1000 genomes]
rs73267406	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
6	chr14:31766800-31786800	Weak transcription	Small Intestine	intestine
7	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:31767800-31789400	Strong transcription	Adipose Nuclei	Adipose
9	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:31768000-31805800	Weak transcription	NHEK	skin
12	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
13	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
14	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:31769200-31786200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:31770000-31789400	Weak transcription	Fetal Brain Male	brain
18	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:31771600-31786000	Weak transcription	Thymus	Thymus
23	chr14:31771600-31798600	Weak transcription	A549	lung
24	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:31772800-31787800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
27	chr14:31773600-31789000	Weak transcription	HSMMtube	muscle
28	chr14:31773600-31789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:31774000-31788200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:31774400-31792200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:31774400-31798600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
33	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
34	chr14:31777000-31788800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:31777000-31795000	Weak transcription	GM12878-XiMat	blood
36	chr14:31777200-31795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:31777200-31799400	Weak transcription	Primary T cells from cord blood	blood
38	chr14:31777800-31788200	Strong transcription	Liver	Liver
39	chr14:31779200-31794400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:31779400-31786000	Strong transcription	HepG2	liver
41	chr14:31779400-31790800	Strong transcription	Fetal Stomach	stomach
42	chr14:31780000-31790000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr14:31780000-31790600	Strong transcription	Osteobl	bone
44	chr14:31780400-31786000	Strong transcription	Hela-S3	cervix
45	chr14:31780400-31794400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:31780600-31787400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:31780600-31795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:31781000-31787400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:31782000-31787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:31782200-31787800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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