Variant report

Variant	rs72919591
Chromosome Location	chr1:59314901-59314902
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59249051..59253229-chr1:59312821..59315698,5	K562	blood:
2	chr1:59313894..59315402-chr1:59321018..59322675,2	K562	blood:
3	chr1:59307170..59309443-chr1:59313768..59316311,4	K562	blood:
4	chr1:59248460..59250556-chr1:59313953..59316188,2	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72919582	1.00[AMR][1000 genomes]
rs72919585	1.00[AMR][1000 genomes]
rs72919586	1.00[AMR][1000 genomes]
rs72919589	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1014087	chr1:59286306-59334393	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59312000-59320600	Weak transcription	Pancreas	Pancrea
2	chr1:59312800-59317400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:59313000-59317400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:59313000-59317800	Enhancers	HMEC	breast
5	chr1:59313200-59317400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:59313400-59315200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:59313400-59316400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:59313600-59315000	Enhancers	HUVEC	blood vessel
9	chr1:59313600-59320000	Weak transcription	Primary T cells from cord blood	blood
10	chr1:59314000-59315000	Enhancers	Spleen	Spleen
11	chr1:59314000-59315000	Enhancers	NHLF	lung
12	chr1:59314000-59316200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:59314200-59315000	Enhancers	K562	blood
14	chr1:59314200-59315200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:59314200-59315200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:59314200-59315200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:59314200-59315200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:59314200-59315400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:59314200-59315400	Flanking Active TSS	Hela-S3	cervix
20	chr1:59314200-59315400	Enhancers	HSMMtube	muscle
21	chr1:59314200-59315600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:59314200-59315600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:59314200-59315600	Enhancers	Brain Angular Gyrus	brain
24	chr1:59314200-59315600	Enhancers	Brain Hippocampus Middle	brain
25	chr1:59314200-59315600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:59314200-59315600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr1:59314200-59315600	Enhancers	Small Intestine	intestine
28	chr1:59314200-59315600	Flanking Active TSS	Osteobl	bone
29	chr1:59314200-59316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:59314200-59316200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:59314200-59316200	Enhancers	Stomach Mucosa	stomach
32	chr1:59314400-59315000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:59314400-59315000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:59314400-59315000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:59314400-59315200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:59314400-59315200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:59314400-59315200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:59314400-59315200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:59314400-59315200	Enhancers	Esophagus	oesophagus
40	chr1:59314400-59315200	Enhancers	Ovary	ovary
41	chr1:59314400-59315200	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:59314400-59315200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:59314400-59315400	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:59314400-59315400	Enhancers	Brain Substantia Nigra	brain
45	chr1:59314400-59315400	Enhancers	Colon Smooth Muscle	Colon
46	chr1:59314400-59315400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:59314400-59315600	Enhancers	Adipose Nuclei	Adipose
48	chr1:59314400-59315600	Enhancers	Brain Anterior Caudate	brain
49	chr1:59314400-59315600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:59314400-59315600	Enhancers	Left Ventricle	heart

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