Variant report

Variant	rs16848026
Chromosome Location	chr1:227830052-227830053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12563117	1.00[EUR][1000 genomes]
rs12563564	1.00[EUR][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[EUR][1000 genomes]
rs12564929	1.00[EUR][1000 genomes]
rs12565099	1.00[EUR][1000 genomes]
rs12565109	1.00[EUR][1000 genomes]
rs12565618	1.00[EUR][1000 genomes]
rs12565653	1.00[EUR][1000 genomes]
rs12566716	1.00[EUR][1000 genomes]
rs12567084	1.00[EUR][1000 genomes]
rs12567934	1.00[EUR][1000 genomes]
rs12568707	1.00[EUR][1000 genomes]
rs1323021	1.00[EUR][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16841323	1.00[EUR][1000 genomes]
rs16847912	1.00[EUR][1000 genomes]
rs16847926	1.00[EUR][1000 genomes]
rs16847929	1.00[EUR][1000 genomes]
rs16847948	1.00[EUR][1000 genomes]
rs16847987	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes]
rs16848160	1.00[EUR][1000 genomes]
rs16859962	1.00[EUR][1000 genomes]
rs16860227	1.00[EUR][1000 genomes]
rs17492440	1.00[EUR][1000 genomes]
rs17492447	1.00[EUR][1000 genomes]
rs2101862	1.00[EUR][1000 genomes]
rs2313220	1.00[EUR][1000 genomes]
rs34984248	1.00[EUR][1000 genomes]
rs35703429	1.00[EUR][1000 genomes]
rs4462138	1.00[EUR][1000 genomes]
rs59461077	1.00[EUR][1000 genomes]
rs6665512	1.00[EUR][1000 genomes]
rs73090936	1.00[EUR][1000 genomes]
rs73090937	1.00[EUR][1000 genomes]
rs73090938	1.00[EUR][1000 genomes]
rs73090948	1.00[EUR][1000 genomes]
rs73090952	1.00[EUR][1000 genomes]
rs73090985	1.00[EUR][1000 genomes]
rs73090986	1.00[EUR][1000 genomes]
rs73090987	1.00[EUR][1000 genomes]
rs73090994	1.00[EUR][1000 genomes]
rs73091000	1.00[EUR][1000 genomes]
rs73092607	1.00[EUR][1000 genomes]
rs73092610	1.00[EUR][1000 genomes]
rs7554851	1.00[EUR][1000 genomes]
rs996226	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
4	chr1:227818600-227830600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr1:227818600-227834200	ZNF genes & repeats	Fetal Brain Female	brain
6	chr1:227819800-227837600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:227820200-227830400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr1:227820200-227831400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr1:227820600-227861600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr1:227825200-227830400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr1:227827400-227830800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:227827600-227830400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
13	chr1:227827800-227830600	Weak transcription	Fetal Heart	heart
14	chr1:227827800-227830800	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr1:227827800-227845400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr1:227828000-227830200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:227828000-227830600	ZNF genes & repeats	Ovary	ovary
18	chr1:227828200-227830400	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr1:227828200-227830800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr1:227828200-227831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:227828400-227830200	ZNF genes & repeats	Left Ventricle	heart
22	chr1:227828400-227837400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
23	chr1:227828600-227830200	ZNF genes & repeats	Colonic Mucosa	Colon
24	chr1:227828800-227831000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr1:227829000-227832400	Weak transcription	Gastric	stomach
26	chr1:227829200-227830800	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr1:227829200-227831400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr1:227829400-227830800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:227829400-227859800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:227829600-227837600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr1:227829800-227830600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr1:227829800-227830600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr1:227829800-227830800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr1:227830000-227830400	ZNF genes & repeats	Aorta	Aorta
35	chr1:227830000-227830600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:227830000-227831400	ZNF genes & repeats	Psoas Muscle	Psoas

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