Variant report

Variant	rs2229462
Chromosome Location	chr14:24731015-24731016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24730559-24731059	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24728033..24731088-chr14:24738307..24741895,4	K562	blood:
2	chr14:24709885..24712495-chr14:24729167..24732182,3	K562	blood:
3	chr14:24727468..24729589-chr14:24730994..24732628,2	K562	blood:
4	chr14:24729593..24731292-chr14:24909635..24912407,2	MCF-7	breast:
5	chr14:24729807..24731967-chr14:24774979..24777568,2	K562	blood:

No data

Variant related genes	Relation type
TGM1	TF binding region
ENSG00000136305	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000092295	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11574512	1.00[MEX][hapmap]
rs17101262	1.00[MEX][hapmap]
rs2855009	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24712600-24740000	Weak transcription	Small Intestine	intestine
2	chr14:24713000-24734200	Weak transcription	Left Ventricle	heart
3	chr14:24713000-24740000	Weak transcription	Right Atrium	heart
4	chr14:24713200-24732600	Weak transcription	Fetal Thymus	thymus
5	chr14:24713200-24734400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:24713200-24734600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:24713200-24734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:24713200-24734600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:24713200-24734800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:24713200-24734800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:24713200-24735400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:24716400-24733800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:24716400-24734000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:24716400-24735800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:24716400-24739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:24716600-24739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:24717200-24736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:24718600-24733400	Strong transcription	Primary T cells from cord blood	blood
19	chr14:24720000-24739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:24720200-24733800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:24720800-24734200	Weak transcription	Brain Germinal Matrix	brain
22	chr14:24721200-24739400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:24721600-24735600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:24721600-24739800	Weak transcription	HUVEC	blood vessel
25	chr14:24722600-24740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:24724200-24734800	Weak transcription	Aorta	Aorta
27	chr14:24724400-24734200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:24724400-24734800	Weak transcription	Thymus	Thymus
29	chr14:24724600-24733000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:24724600-24734200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:24724600-24734800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:24724600-24734800	Weak transcription	Brain Angular Gyrus	brain
33	chr14:24724800-24734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:24725000-24731600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:24725000-24733200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:24725000-24733800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:24725000-24734200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:24725000-24734600	Weak transcription	Liver	Liver
39	chr14:24725000-24734800	Weak transcription	Colonic Mucosa	Colon
40	chr14:24725000-24735000	Weak transcription	Primary B cells from cord blood	blood
41	chr14:24725200-24734200	Weak transcription	Fetal Brain Female	brain
42	chr14:24725400-24733200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:24725600-24733200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:24725600-24734000	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:24725600-24734000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:24725600-24734400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:24725800-24734000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr14:24725800-24737800	Weak transcription	Psoas Muscle	Psoas
49	chr14:24726200-24732800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:24726200-24739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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