Variant report

Variant	rs73003288
Chromosome Location	chr1:154689597-154689598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154689497..154692028-chr1:154696479..154699403,2	K562	blood:
2	chr1:154688405..154691328-chr1:154753199..154755774,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAR-3	chr1:154689313-154689668	NONHSAT006643

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10157394	1.00[AMR][1000 genomes]
rs13374415	1.00[AMR][1000 genomes]
rs57453542	1.00[AMR][1000 genomes]
rs58674727	1.00[AMR][1000 genomes]
rs60328853	1.00[AMR][1000 genomes]
rs61104084	1.00[AMR][1000 genomes]
rs6690287	1.00[AMR][1000 genomes]
rs73001459	1.00[AMR][1000 genomes]
rs73001465	1.00[AMR][1000 genomes]
rs73001483	1.00[AMR][1000 genomes]
rs73003213	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154677400-154698600	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:154680600-154696400	Weak transcription	Left Ventricle	heart
3	chr1:154683000-154692200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:154683000-154699200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:154684800-154692200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:154685400-154689600	Enhancers	Placenta	Placenta
7	chr1:154686200-154689600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:154686200-154703000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:154686400-154689600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:154686800-154689600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:154686800-154692000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:154686800-154692800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:154687000-154690800	Enhancers	Fetal Brain Male	brain
14	chr1:154687000-154691000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:154687000-154691600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:154687000-154692200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:154687000-154692400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:154687000-154693000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:154687000-154696400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:154687000-154698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:154687000-154699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:154687000-154701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:154687000-154701800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:154687000-154702800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:154687200-154690000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:154687200-154690400	Weak transcription	Spleen	Spleen
27	chr1:154687200-154692200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:154687400-154696400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:154687400-154698800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:154687600-154690000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:154687600-154692800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:154688000-154690600	Enhancers	Fetal Brain Female	brain
33	chr1:154688000-154690600	Enhancers	Fetal Thymus	thymus
34	chr1:154688200-154689600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:154688200-154690200	Enhancers	Fetal Kidney	kidney
36	chr1:154688200-154690600	Enhancers	Ovary	ovary
37	chr1:154688200-154690600	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:154688200-154690800	Enhancers	Fetal Stomach	stomach
39	chr1:154688200-154692600	Weak transcription	Primary B cells from cord blood	blood
40	chr1:154688400-154692000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:154688400-154692200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:154688600-154690200	Strong transcription	GM12878-XiMat	blood
43	chr1:154688600-154690600	Enhancers	Brain Anterior Caudate	brain
44	chr1:154688800-154691400	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:154688800-154691600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:154688800-154696200	Weak transcription	Brain Germinal Matrix	brain
47	chr1:154688800-154698400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:154688800-154699000	Weak transcription	Brain Substantia Nigra	brain
49	chr1:154689000-154691800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:154689200-154690400	Enhancers	Thymus	Thymus

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