Variant report

Variant	rs12650503
Chromosome Location	chr4:175207632-175207633
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:175207415-175207999	K562	blood:	n/a	n/a
2	POLR2A	chr4:175203891-175208621	K562	blood:	n/a	n/a
3	ZNF384	chr4:175207574-175207660	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175205836..175208644-chr4:175242544..175244283,2	K562	blood:
2	chr4:175109745..175111879-chr4:175206886..175209769,2	K562	blood:
3	chr4:175203968..175206484-chr4:175206530..175210065,3	MCF-7	breast:
4	chr4:175205220..175206862-chr4:175207020..175209229,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO8	TF binding region
ENSG00000164118	Chromatin interaction
ENSG00000164117	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11725521	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11736418	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12331066	0.84[EUR][1000 genomes]
rs72702241	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175205600-175209400	Weak transcription	Spleen	Spleen
2	chr4:175205600-175214200	Weak transcription	Esophagus	oesophagus
3	chr4:175205600-175241600	Weak transcription	Small Intestine	intestine
4	chr4:175205800-175214200	Weak transcription	Pancreas	Pancrea
5	chr4:175206000-175208800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:175206000-175209600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:175206000-175213000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:175206000-175213000	Weak transcription	Left Ventricle	heart
9	chr4:175206000-175214000	Weak transcription	Psoas Muscle	Psoas
10	chr4:175206000-175214200	Weak transcription	Ovary	ovary
11	chr4:175206000-175235000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:175206200-175208600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:175206200-175210400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:175206200-175210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:175206200-175212800	Weak transcription	Fetal Thymus	thymus
16	chr4:175206200-175213000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:175206200-175213000	Weak transcription	Colonic Mucosa	Colon
18	chr4:175206200-175213200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:175206200-175213200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:175206200-175213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:175206200-175214000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:175206200-175214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:175206200-175214200	Weak transcription	Aorta	Aorta
24	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
25	chr4:175206400-175210200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:175206400-175213000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:175206400-175213000	Weak transcription	Adipose Nuclei	Adipose
28	chr4:175206400-175213000	Weak transcription	Fetal Stomach	stomach
29	chr4:175206400-175213200	Weak transcription	Fetal Kidney	kidney
30	chr4:175206400-175213400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:175206400-175213800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:175206400-175214000	Weak transcription	HMEC	breast
33	chr4:175206400-175214000	Weak transcription	HSMM	muscle
34	chr4:175206400-175214200	Weak transcription	Thymus	Thymus
35	chr4:175206400-175221800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:175206400-175228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:175206600-175212600	Weak transcription	Primary B cells from cord blood	blood
38	chr4:175206600-175213400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:175206600-175237800	Weak transcription	Osteobl	bone
40	chr4:175206800-175212600	Weak transcription	A549	lung
41	chr4:175206800-175213000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:175206800-175213200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:175206800-175229200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:175207000-175208400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:175207000-175208400	Enhancers	Hela-S3	cervix
47	chr4:175207000-175211600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:175207000-175212000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:175207000-175213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:175207000-175213000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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