Variant report

Variant	rs73121816
Chromosome Location	chr1:224528843-224528844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73118061	1.00[AFR][1000 genomes]
rs73118062	1.00[AFR][1000 genomes]
rs73118079	1.00[AFR][1000 genomes]
rs73123796	0.86[AFR][1000 genomes]
rs73127514	1.00[AFR][1000 genomes]
rs73127517	1.00[AFR][1000 genomes]
rs7522109	1.00[AFR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224528400-224529000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:224528400-224529000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:224528400-224529000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:224528400-224529000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:224528400-224529000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:224528400-224529000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:224528400-224529000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
8	chr1:224528400-224529000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:224528400-224529000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:224528400-224529000	Active TSS	Colonic Mucosa	Colon
11	chr1:224528400-224529000	Active TSS	Fetal Kidney	kidney
12	chr1:224528400-224529000	Flanking Active TSS	HUVEC	blood vessel
13	chr1:224528400-224529200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:224528400-224529200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:224528400-224529200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:224528400-224529200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:224528400-224529200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:224528400-224529200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:224528400-224529200	Active TSS	Fetal Intestine Large	intestine
20	chr1:224528400-224529200	Active TSS	Fetal Intestine Small	intestine
21	chr1:224528400-224529200	Active TSS	HepG2	liver
22	chr1:224528400-224529200	Active TSS	NHDF-Ad	bronchial
23	chr1:224528400-224529200	Active TSS	NHLF	lung
24	chr1:224528400-224529200	Active TSS	Osteobl	bone
25	chr1:224528400-224529400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr1:224528400-224529400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:224528400-224529400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:224528400-224529400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:224528400-224529400	Active TSS	A549	lung
30	chr1:224528400-224529600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:224528600-224529000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:224528600-224529000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:224528600-224529000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:224528600-224529000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:224528600-224529000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:224528600-224529000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:224528600-224529000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:224528600-224529000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:224528600-224529000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
40	chr1:224528600-224529000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
41	chr1:224528600-224529000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr1:224528600-224529000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr1:224528600-224529000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:224528600-224529000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:224528600-224529000	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:224528600-224529000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:224528600-224529000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr1:224528600-224529000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:224528600-224529000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:224528600-224529000	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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