Variant report

Variant	rs57912772
Chromosome Location	chr14:71880536-71880537
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17106801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126107	0.89[AFR][1000 genomes]
rs4899395	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902930	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56979877	0.89[AFR][1000 genomes]
rs58286010	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59153212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59852557	0.98[AFR][1000 genomes]
rs60347165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60597274	0.91[AFR][1000 genomes];1.00[AMR][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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71861000-71885200	Weak transcription	K562	blood
2	chr14:71866000-71889000	Weak transcription	Dnd41	blood
3	chr14:71867200-71892200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:71867800-71881600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:71867800-71885000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:71868200-71891400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:71868400-71881200	Weak transcription	NHLF	lung
8	chr14:71869600-71904200	Weak transcription	Hela-S3	cervix
9	chr14:71870600-71891000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:71871400-71880600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:71871600-71899600	Weak transcription	Primary B cells from cord blood	blood
12	chr14:71872600-71885000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:71874400-71897000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:71875400-71885200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:71875600-71883200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:71875800-71881800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:71875800-71885200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:71875800-71885600	Weak transcription	Brain Anterior Caudate	brain
19	chr14:71875800-71889400	Weak transcription	Fetal Kidney	kidney
20	chr14:71875800-71897400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:71876000-71891000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:71876200-71881400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:71876200-71889000	Weak transcription	HSMM	muscle
24	chr14:71876200-71890800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:71876200-71896800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:71877000-71888400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:71877600-71884800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:71877800-71883200	Weak transcription	Fetal Heart	heart
29	chr14:71877800-71888800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:71878200-71891000	Weak transcription	Liver	Liver
31	chr14:71878400-71881800	Weak transcription	Adipose Nuclei	Adipose
32	chr14:71878400-71891400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:71878600-71880600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:71878600-71881200	Weak transcription	Stomach Mucosa	stomach
35	chr14:71878600-71881200	Weak transcription	HMEC	breast
36	chr14:71878600-71881400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:71878600-71881400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:71878600-71881600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:71878600-71881800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:71878600-71884600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:71878600-71885200	Weak transcription	Small Intestine	intestine
42	chr14:71878600-71885400	Weak transcription	Pancreas	Pancrea
43	chr14:71878600-71888600	Weak transcription	Primary T cells from cord blood	blood
44	chr14:71878600-71897200	Weak transcription	Thymus	Thymus
45	chr14:71878600-71905200	Weak transcription	Aorta	Aorta
46	chr14:71878800-71881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:71879000-71881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:71879000-71881200	Weak transcription	NHDF-Ad	bronchial
49	chr14:71879000-71881200	Weak transcription	NHEK	skin
50	chr14:71879000-71881400	Weak transcription	NH-A	brain

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