Variant report

Variant	rs28372995
Chromosome Location	chr14:31779782-31779783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10141126	0.81[ASN][1000 genomes]
rs10144921	1.00[ASN][1000 genomes]
rs10400798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12589391	0.88[ASN][1000 genomes]
rs4537923	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31760800-31781000	Weak transcription	Fetal Kidney	kidney
3	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:31762200-31780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:31762200-31785200	Weak transcription	HMEC	breast
7	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:31762600-31779800	Weak transcription	Esophagus	oesophagus
9	chr14:31762800-31783000	Weak transcription	Fetal Thymus	thymus
10	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
11	chr14:31763200-31783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:31763400-31780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:31763400-31781800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:31763400-31784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:31763600-31784600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:31764800-31784200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:31766800-31786800	Weak transcription	Small Intestine	intestine
18	chr14:31767400-31781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:31767800-31783000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:31767800-31783800	Weak transcription	K562	blood
22	chr14:31767800-31789400	Strong transcription	Adipose Nuclei	Adipose
23	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
25	chr14:31768000-31805800	Weak transcription	NHEK	skin
26	chr14:31768200-31783800	Strong transcription	Placenta	Placenta
27	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
28	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
29	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:31769200-31782600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:31769200-31786200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:31770000-31781800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:31770000-31789400	Weak transcription	Fetal Brain Male	brain
35	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:31770200-31784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:31771400-31781000	Weak transcription	Spleen	Spleen
41	chr14:31771600-31786000	Weak transcription	Thymus	Thymus
42	chr14:31771600-31798600	Weak transcription	A549	lung
43	chr14:31771800-31780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:31771800-31781000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:31771800-31781000	Weak transcription	Gastric	stomach
46	chr14:31772000-31780000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:31772800-31787800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
50	chr14:31773600-31789000	Weak transcription	HSMMtube	muscle

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