Variant report

Variant	rs72649574
Chromosome Location	chr1:63063688-63063689
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	chr1:63063122..63065536-chr1:63066571..63069108,3	K562	blood:

Variant related genes	Relation type
ENSG00000132855	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4329539	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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	8 gene(s)	inside rSNPs	diseases
3	nsv1011203	chr1:63047046-63081879	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv870559	chr1:63057136-63113719	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1000988	chr1:63061791-63107526	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
2	chr1:63010800-63078400	Weak transcription	A549	lung
3	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:63038400-63087600	Weak transcription	NHEK	skin
5	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:63038600-63083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:63039200-63095200	Weak transcription	Ovary	ovary
8	chr1:63041000-63095200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:63041000-63095600	Weak transcription	Fetal Stomach	stomach
10	chr1:63042200-63083600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:63044000-63076000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:63047600-63077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:63050600-63083800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:63051000-63066400	Weak transcription	NHLF	lung
15	chr1:63051800-63075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:63051800-63077000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:63051800-63083400	Weak transcription	Fetal Lung	lung
18	chr1:63051800-63096000	Weak transcription	Left Ventricle	heart
19	chr1:63052400-63083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:63052600-63077200	Weak transcription	HSMM	muscle
21	chr1:63052600-63084400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:63052800-63067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:63053000-63068000	Weak transcription	NHDF-Ad	bronchial
24	chr1:63054600-63064800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:63054800-63079800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:63054800-63087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:63057000-63082800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:63057000-63083800	Weak transcription	Adipose Nuclei	Adipose
29	chr1:63059400-63065200	Enhancers	HepG2	liver
30	chr1:63060600-63066200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:63060600-63076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:63061200-63064400	Weak transcription	Osteobl	bone
33	chr1:63062800-63077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:63063000-63066800	Active TSS	Liver	Liver
35	chr1:63063200-63063800	Active TSS	Fetal Intestine Large	intestine
36	chr1:63063200-63066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:63063200-63076600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:63063200-63085000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:63063400-63065200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:63063600-63064400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:63063600-63064800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:63063600-63064800	Weak transcription	Stomach Mucosa	stomach
43	chr1:63063600-63067000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:63063600-63067800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:63063600-63076200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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