Variant report

Variant	rs59066189
Chromosome Location	chr1:224691734-224691735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224683423..224687942-chr1:224688283..224691740,8	K562	blood:
2	chr1:224619049..224621827-chr1:224690303..224691906,2	MCF-7	breast:
3	chr1:224688210..224692730-chr1:224708810..224713777,4	K562	blood:
4	chr1:224624808..224626574-chr1:224690723..224692820,2	K562	blood:
5	chr1:224643383..224644923-chr1:224691038..224692842,2	MCF-7	breast:
6	chr1:224679447..224681226-chr1:224689931..224692404,2	MCF-7	breast:
7	chr1:224690598..224692730-chr1:224711571..224713777,2	K562	blood:
8	chr1:224621492..224623034-chr1:224689907..224692360,2	K562	blood:
9	chr1:224690531..224692939-chr1:225090121..225091739,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13376231	1.00[EUR][1000 genomes]
rs55787629	1.00[EUR][1000 genomes]
rs57898225	1.00[EUR][1000 genomes]
rs60544953	1.00[EUR][1000 genomes]
rs60976873	1.00[EUR][1000 genomes]
rs61004241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61155218	1.00[EUR][1000 genomes]
rs61479600	1.00[EUR][1000 genomes]
rs6676481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6683232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74146364	1.00[EUR][1000 genomes]
rs74146365	1.00[EUR][1000 genomes]
rs74146366	1.00[EUR][1000 genomes]
rs74146367	1.00[EUR][1000 genomes]
rs74146368	1.00[EUR][1000 genomes]
rs7522430	1.00[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv947162	chr1:224690408-224695941	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:224687800-224692600	Enhancers	Fetal Thymus	thymus
3	chr1:224688600-224694400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:224689200-224692000	Enhancers	Thymus	Thymus
5	chr1:224689400-224691800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:224689400-224692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:224689400-224692000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:224689400-224692200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:224689600-224691800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:224689600-224692000	Enhancers	Esophagus	oesophagus
11	chr1:224689600-224692000	Enhancers	Fetal Stomach	stomach
12	chr1:224689600-224692400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:224689600-224692400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:224689600-224692400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:224689600-224692400	Enhancers	Right Ventricle	heart
16	chr1:224689600-224692600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:224689600-224692600	Enhancers	Fetal Muscle Leg	muscle
18	chr1:224689600-224692600	Enhancers	Pancreas	Pancrea
19	chr1:224689600-224692600	Enhancers	Right Atrium	heart
20	chr1:224689600-224692600	Enhancers	Stomach Mucosa	stomach
21	chr1:224689600-224693000	Enhancers	Lung	lung
22	chr1:224689600-224693200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:224689600-224694600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:224689600-224694800	Enhancers	HMEC	breast
25	chr1:224689800-224692000	Enhancers	Fetal Lung	lung
26	chr1:224689800-224692000	Enhancers	GM12878-XiMat	blood
27	chr1:224689800-224692400	Enhancers	Fetal Heart	heart
28	chr1:224689800-224692600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:224689800-224692600	Enhancers	HUVEC	blood vessel
30	chr1:224689800-224694800	Enhancers	Adipose Nuclei	Adipose
31	chr1:224690000-224691800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:224690000-224691800	Enhancers	Fetal Muscle Trunk	muscle
33	chr1:224690000-224691800	Enhancers	Ovary	ovary
34	chr1:224690000-224691800	Enhancers	Small Intestine	intestine
35	chr1:224690000-224692000	Enhancers	Brain Angular Gyrus	brain
36	chr1:224690000-224692000	Enhancers	Spleen	Spleen
37	chr1:224690000-224692000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:224690000-224692200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:224690000-224692400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:224690000-224692400	Enhancers	Fetal Brain Male	brain
41	chr1:224690000-224692400	Enhancers	Placenta	Placenta
42	chr1:224690000-224692600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:224690000-224692600	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:224690000-224692600	Enhancers	Fetal Intestine Large	intestine
45	chr1:224690000-224692600	Enhancers	Fetal Intestine Small	intestine
46	chr1:224690000-224693000	Enhancers	Psoas Muscle	Psoas
47	chr1:224690000-224694400	Enhancers	NHLF	lung
48	chr1:224690000-224694800	Enhancers	NHDF-Ad	bronchial
49	chr1:224690000-224699400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:224690000-224702000	Enhancers	Liver	Liver

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