Variant report

Variant	rs73124838
Chromosome Location	chr1:222822586-222822587
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	chr1:222817285..222820043-chr1:222820783..222823555,3	K562	blood:
2	chr1:222816842..222820047-chr1:222820781..222823646,5	K562	blood:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs73124819	1.00[AFR][1000 genomes]
rs73124830	1.00[AFR][1000 genomes]
rs73124833	0.93[AFR][1000 genomes]
rs73124835	0.93[AFR][1000 genomes]
rs73124836	1.00[AFR][1000 genomes]
rs73124844	1.00[AFR][1000 genomes]
rs73124845	1.00[AFR][1000 genomes]
rs73124852	0.93[AFR][1000 genomes]
rs73124859	1.00[AFR][1000 genomes]
rs73124860	1.00[AFR][1000 genomes]
rs73126809	0.81[AFR][1000 genomes]
rs73126827	0.87[AFR][1000 genomes]
rs73126831	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222818200-222823000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:222818200-222826000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:222818200-222826000	Weak transcription	Ovary	ovary
4	chr1:222818200-222826000	Weak transcription	Spleen	Spleen
5	chr1:222818200-222826200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:222818200-222826200	Weak transcription	Esophagus	oesophagus
7	chr1:222818400-222822600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:222818400-222822800	Weak transcription	Colonic Mucosa	Colon
9	chr1:222818400-222823000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:222818400-222823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:222818400-222823000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:222818400-222823200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:222818400-222824000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:222818400-222824800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:222818400-222825600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:222818400-222825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:222818400-222825600	Weak transcription	Psoas Muscle	Psoas
18	chr1:222818400-222825600	Weak transcription	Small Intestine	intestine
19	chr1:222818400-222826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:222818400-222826000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:222818400-222826000	Weak transcription	Gastric	stomach
22	chr1:222818400-222826000	Weak transcription	Pancreas	Pancrea
23	chr1:222818400-222826000	Weak transcription	Right Ventricle	heart
24	chr1:222818400-222826200	Weak transcription	Aorta	Aorta
25	chr1:222818400-222826600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:222818400-222827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:222818400-222833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:222818800-222822600	Weak transcription	HUVEC	blood vessel
29	chr1:222818800-222822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:222818800-222823000	Weak transcription	Fetal Brain Male	brain
31	chr1:222818800-222823000	Weak transcription	HSMMtube	muscle
32	chr1:222818800-222823200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:222818800-222823200	Weak transcription	Brain Anterior Caudate	brain
34	chr1:222818800-222823200	Weak transcription	Brain Substantia Nigra	brain
35	chr1:222818800-222823800	Weak transcription	HMEC	breast
36	chr1:222818800-222826000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:222818800-222826000	Weak transcription	Fetal Heart	heart
38	chr1:222818800-222841600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:222819000-222822800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:222819000-222822800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:222819000-222822800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:222819000-222823000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:222819000-222823000	Weak transcription	NHEK	skin
44	chr1:222819000-222823200	Weak transcription	K562	blood
45	chr1:222819000-222824000	Weak transcription	A549	lung
46	chr1:222819000-222824800	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:222819000-222825200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:222819000-222825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:222819000-222825600	Weak transcription	Stomach Mucosa	stomach
50	chr1:222819000-222825800	Weak transcription	Rectal Smooth Muscle	rectum

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