Variant report

Variant	rs74090528
Chromosome Location	chr14:105854042-105854043
allele	A/C
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	chr14:105854036-105854107	Hela-S3	cervix:	n/a	n/a

No data

(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	chr14:105842218..105845435-chr14:105851736..105854414,4	K562	blood:
3	chr14:105847451..105849244-chr14:105853752..105857864,3	MCF-7	breast:
4	chr14:105843224..105844739-chr14:105851736..105854414,2	K562	blood:
5	chr14:105853760..105856019-chr14:105954695..105956610,2	MCF-7	breast:

No data

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000185347	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000256498	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28589825	1.00[EUR][1000 genomes]
rs60719574	1.00[EUR][1000 genomes]
rs61737468	1.00[EUR][1000 genomes]
rs73357401	1.00[EUR][1000 genomes]
rs73359029	1.00[EUR][1000 genomes]
rs73359072	1.00[EUR][1000 genomes]
rs74090510	1.00[EUR][1000 genomes]
rs74091270	1.00[EUR][1000 genomes]
rs8010601	1.00[EUR][1000 genomes]
rs8021663	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	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:103 , 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	chr14:105842600-105856000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:105842800-105854600	Weak transcription	Primary B cells from cord blood	blood
9	chr14:105842800-105855200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:105842800-105855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:105842800-105856400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:105842800-105856400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:105843200-105854200	Strong transcription	Brain Hippocampus Middle	brain
14	chr14:105844000-105855200	Strong transcription	Brain Cingulate Gyrus	brain
15	chr14:105844400-105854400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr14:105844400-105856200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:105844400-105862400	Strong transcription	Brain Germinal Matrix	brain
18	chr14:105844400-105862800	Strong transcription	Fetal Intestine Small	intestine
19	chr14:105844600-105854200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:105844800-105857000	Weak transcription	Stomach Mucosa	stomach
21	chr14:105845000-105854200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:105845200-105855000	Strong transcription	Spleen	Spleen
23	chr14:105845200-105857200	Strong transcription	Right Ventricle	heart
24	chr14:105845200-105862600	Strong transcription	Fetal Brain Female	brain
25	chr14:105845400-105855800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:105845600-105854800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:105845600-105854800	Strong transcription	Gastric	stomach
28	chr14:105845600-105855600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr14:105845600-105860800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:105845800-105855400	Strong transcription	Fetal Intestine Large	intestine
31	chr14:105845800-105855600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:105845800-105855600	Strong transcription	Lung	lung
33	chr14:105846000-105854200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:105846000-105854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:105846000-105854600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:105846000-105855200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:105846000-105855200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:105846200-105854200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr14:105846200-105854200	Strong transcription	Ovary	ovary
40	chr14:105846200-105854400	Strong transcription	Brain Anterior Caudate	brain
41	chr14:105846200-105854400	Strong transcription	Colonic Mucosa	Colon
42	chr14:105846200-105854800	Strong transcription	Pancreas	Pancrea
43	chr14:105846200-105855800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:105846400-105857000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:105846600-105855600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:105847800-105854200	Strong transcription	Thymus	Thymus
47	chr14:105848000-105864200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:105848400-105854600	Strong transcription	Primary T cells from cord blood	blood
49	chr14:105848400-105864000	Weak transcription	Psoas Muscle	Psoas
50	chr14:105848600-105854600	Strong transcription	Rectal Mucosa Donor 29	rectum

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