Variant report

Variant	rs13405484
Chromosome Location	chr2:55633921-55633922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55629189..55632200-chr2:55632234..55637417,4	K562	blood:
2	chr2:55633136..55639027-chr2:55639441..55643745,9	K562	blood:
3	chr2:55627632..55629326-chr2:55632488..55634437,2	K562	blood:

Extended variants
information (count: 20 )
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]
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]
rs13414738	1.00[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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv874159	chr2:55513738-55636351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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:101 , 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	chr2:55555200-55635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:55579200-55640800	Weak transcription	Fetal Brain Male	brain
4	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:55589400-55639400	Weak transcription	Aorta	Aorta
6	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:55592000-55635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:55592800-55635600	Weak transcription	HSMMtube	muscle
9	chr2:55601800-55644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:55616600-55635400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:55616600-55635400	Weak transcription	HMEC	breast
12	chr2:55616800-55642600	Weak transcription	HUVEC	blood vessel
13	chr2:55618200-55635200	Weak transcription	Psoas Muscle	Psoas
14	chr2:55618200-55639400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:55618200-55642400	Weak transcription	Fetal Lung	lung
16	chr2:55618600-55636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:55619200-55636800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:55623000-55635600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:55623200-55644400	Weak transcription	Fetal Kidney	kidney
20	chr2:55624200-55635600	Weak transcription	NHEK	skin
21	chr2:55624400-55645600	Weak transcription	Ovary	ovary
22	chr2:55627800-55636000	Weak transcription	NHDF-Ad	bronchial
23	chr2:55628600-55646000	Weak transcription	Esophagus	oesophagus
24	chr2:55629000-55634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:55629000-55635600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:55629400-55634400	Strong transcription	Fetal Thymus	thymus
27	chr2:55629600-55634200	Strong transcription	Dnd41	blood
28	chr2:55629600-55636200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:55630200-55634000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:55630200-55634200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:55630200-55634200	Enhancers	Brain Substantia Nigra	brain
32	chr2:55630200-55634800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:55630400-55634200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:55630400-55645800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:55630600-55644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:55630800-55635400	Weak transcription	NH-A	brain
37	chr2:55630800-55642400	Weak transcription	Pancreas	Pancrea
38	chr2:55630800-55644800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:55630800-55645200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:55630800-55645200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:55631000-55639000	Weak transcription	A549	lung
42	chr2:55631000-55645400	Weak transcription	Placenta	Placenta
43	chr2:55631200-55635600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:55631200-55636400	Weak transcription	K562	blood
45	chr2:55631200-55638600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:55631200-55642600	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:55631400-55635800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:55631400-55642600	Weak transcription	Right Ventricle	heart
49	chr2:55631600-55639200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:55631800-55645200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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