Variant report

Variant	rs1805257
Chromosome Location	chr1:120552215-120552216
allele	C/G
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:2)

rs_ID	r²[population]
rs406767	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs422334	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:120509800-120557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:120510800-120557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:120511600-120557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:120525600-120557800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:120527800-120558200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:120529800-120557800	Weak transcription	Left Ventricle	heart
7	chr1:120531600-120556800	Weak transcription	Fetal Thymus	thymus
8	chr1:120533000-120555200	Weak transcription	Aorta	Aorta
9	chr1:120533000-120556800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:120533200-120558400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:120533400-120555800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:120533400-120555800	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:120533400-120556800	Weak transcription	Fetal Heart	heart
14	chr1:120533400-120557200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:120533400-120557800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:120533400-120558000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:120533400-120558400	Weak transcription	A549	lung
18	chr1:120533400-120561400	Weak transcription	HMEC	breast
19	chr1:120533400-120563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:120533400-120575000	Weak transcription	NHEK	skin
21	chr1:120533400-120578200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:120535400-120557800	Weak transcription	Right Ventricle	heart
23	chr1:120537600-120555800	Weak transcription	Brain Substantia Nigra	brain
24	chr1:120539000-120553200	Weak transcription	NHDF-Ad	bronchial
25	chr1:120539000-120557800	Weak transcription	Colonic Mucosa	Colon
26	chr1:120539200-120555400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:120539400-120557600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:120539800-120555800	Weak transcription	Fetal Lung	lung
29	chr1:120539800-120557800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:120540000-120557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:120542600-120555800	Weak transcription	Brain Germinal Matrix	brain
32	chr1:120543000-120555200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:120544000-120556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:120544000-120556800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:120544000-120563800	Weak transcription	Psoas Muscle	Psoas
36	chr1:120544400-120557800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:120544400-120575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:120544600-120557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:120545200-120553400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:120545200-120557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:120545600-120557600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:120545600-120557800	Weak transcription	HSMM	muscle
43	chr1:120545600-120558200	Weak transcription	Fetal Kidney	kidney
44	chr1:120545800-120555400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:120545800-120557200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:120545800-120557800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:120545800-120578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:120546000-120557400	Weak transcription	Primary B cells from cord blood	blood
49	chr1:120547200-120555800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:120547200-120556000	Weak transcription	Fetal Muscle Leg	muscle

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