Variant report

Variant	rs13132005
Chromosome Location	chr4:26865874-26865875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26861373..26864331-chr4:26865426..26869825,6	K562	blood:
2	chr4:26864497..26869713-chr4:26871452..26874672,4	K562	blood:

Variant related genes	Relation type
ENSG00000240005	Chromatin interaction
ENSG00000109689	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13105390	1.00[ASN][1000 genomes]
rs13126880	1.00[ASN][1000 genomes]
rs34052188	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35008829	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67056878	1.00[ASN][1000 genomes]
rs6855521	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659660	0.93[AFR][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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13132005	RP11-293A21.1	cis	lung	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26861800-26866000	Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr4:26861800-26866600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:26861800-26867000	Active TSS	Ovary	ovary
4	chr4:26862000-26866000	Active TSS	HMEC	breast
5	chr4:26863800-26866800	Weak transcription	Stomach Mucosa	stomach
6	chr4:26863800-26869400	Weak transcription	Pancreas	Pancrea
7	chr4:26863800-26869400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:26863800-26870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:26863800-26874600	Weak transcription	Left Ventricle	heart
10	chr4:26863800-26874600	Weak transcription	Spleen	Spleen
11	chr4:26863800-26875400	Weak transcription	Lung	lung
12	chr4:26864000-26866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:26864000-26867800	Weak transcription	Psoas Muscle	Psoas
14	chr4:26864200-26876800	Weak transcription	Colonic Mucosa	Colon
15	chr4:26864200-26877200	Weak transcription	Aorta	Aorta
16	chr4:26864400-26866200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr4:26864400-26866600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:26864400-26866800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:26864400-26869400	Weak transcription	Fetal Thymus	thymus
20	chr4:26864400-26869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:26864400-26872600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:26864400-26873400	Weak transcription	A549	lung
23	chr4:26864400-26886600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:26864600-26866000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:26864600-26866400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:26864600-26866400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:26864600-26866600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:26864600-26866600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:26864600-26866800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:26864600-26866800	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:26864600-26866800	Weak transcription	K562	blood
32	chr4:26864600-26867200	Enhancers	Brain Substantia Nigra	brain
33	chr4:26864600-26867200	Enhancers	Fetal Lung	lung
34	chr4:26864600-26867800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:26864600-26869200	Weak transcription	Fetal Kidney	kidney
36	chr4:26864600-26869400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:26864600-26869400	Weak transcription	Brain Germinal Matrix	brain
38	chr4:26864600-26869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:26864600-26869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:26864600-26870800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr4:26864600-26870800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:26864600-26871000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr4:26864600-26871800	Enhancers	Primary B cells from peripheral blood	blood
44	chr4:26864600-26872600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:26864600-26885600	Weak transcription	Thymus	Thymus
46	chr4:26864800-26866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:26864800-26866400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:26864800-26866600	Weak transcription	Adipose Nuclei	Adipose
49	chr4:26864800-26866800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:26864800-26867200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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