Variant report

Variant	rs13414738
Chromosome Location	chr2:55641558-55641559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55626650..55628970-chr2:55639819..55642299,2	K562	blood:
2	chr2:55641053..55643696-chr2:55844144..55845979,2	K562	blood:
3	chr2:55633136..55639027-chr2:55639441..55643745,9	K562	blood:

Variant related genes	Relation type
ENSG00000272606	Chromatin interaction
ENSG00000115355	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10169760	1.00[AMR][1000 genomes]
rs10175125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393046	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407643	1.00[AMR][1000 genomes]
rs13407739	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415672	1.00[AMR][1000 genomes]
rs13424427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9309265	1.00[AMR][1000 genomes]

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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55601800-55644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:55616800-55642600	Weak transcription	HUVEC	blood vessel
6	chr2:55618200-55642400	Weak transcription	Fetal Lung	lung
7	chr2:55623200-55644400	Weak transcription	Fetal Kidney	kidney
8	chr2:55624400-55645600	Weak transcription	Ovary	ovary
9	chr2:55628600-55646000	Weak transcription	Esophagus	oesophagus
10	chr2:55630400-55645800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:55630600-55644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:55630800-55642400	Weak transcription	Pancreas	Pancrea
13	chr2:55630800-55644800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:55630800-55645200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:55630800-55645200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:55631000-55645400	Weak transcription	Placenta	Placenta
17	chr2:55631200-55642600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:55631400-55642600	Weak transcription	Right Ventricle	heart
19	chr2:55631800-55645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:55632000-55644800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:55632600-55645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:55632800-55645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:55633000-55645000	Weak transcription	Liver	Liver
24	chr2:55633000-55645800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:55633000-55645800	Weak transcription	Spleen	Spleen
26	chr2:55633000-55646000	Weak transcription	Lung	lung
27	chr2:55633200-55644800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:55636200-55644200	Weak transcription	Fetal Heart	heart
29	chr2:55636400-55642400	Weak transcription	Fetal Brain Female	brain
30	chr2:55636400-55642600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:55636600-55643200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:55636600-55644000	Weak transcription	HSMMtube	muscle
33	chr2:55636800-55642200	Weak transcription	NHLF	lung
34	chr2:55636800-55642600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:55636800-55642800	Weak transcription	NH-A	brain
36	chr2:55636800-55644000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:55636800-55644000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:55636800-55644000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:55636800-55644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:55636800-55645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:55637000-55641800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:55637200-55642200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:55637400-55644600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:55637400-55645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:55637600-55642200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:55637600-55642600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:55637600-55643200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:55638400-55641800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr2:55638600-55641800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:55638600-55644400	Weak transcription	Fetal Intestine Large	intestine

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