Variant report

Variant	rs4525045
Chromosome Location	chr1:222761649-222761650
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222759001..222761767-chr1:222763501..222765317,2	MCF-7	breast:
2	chr1:222753738..222756100-chr1:222759051..222761719,2	MCF-7	breast:
3	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
4	chr1:222760324..222764721-chr1:222884429..222887789,6	K562	blood:
5	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
6	chr1:222761198..222763394-chr1:222816241..222819069,2	K562	blood:
7	chr1:222760324..222762063-chr1:222884419..222886498,2	K562	blood:
8	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11485179	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17163217	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17163273	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2936036	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002124	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002128	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4846767	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
5	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
6	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
7	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
9	chr1:222731600-222762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:222733800-222761800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:222733800-222762200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:222734000-222762400	Weak transcription	Right Ventricle	heart
14	chr1:222734200-222762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:222734800-222762200	Weak transcription	Colonic Mucosa	Colon
16	chr1:222742200-222762400	Weak transcription	Fetal Kidney	kidney
17	chr1:222742800-222762200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:222743000-222762400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:222743600-222762200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:222745800-222762200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:222746000-222762600	Weak transcription	Lung	lung
22	chr1:222746600-222761800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:222750400-222762000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:222751000-222762600	Weak transcription	Left Ventricle	heart
25	chr1:222751600-222762200	Weak transcription	Fetal Heart	heart
26	chr1:222754600-222761800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:222754800-222761800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:222756000-222761800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:222756000-222762200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:222756000-222762200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:222756200-222761800	Weak transcription	NHLF	lung
32	chr1:222756200-222762200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:222756400-222762200	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:222756400-222762200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:222756400-222762400	Weak transcription	Esophagus	oesophagus
36	chr1:222756600-222762000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:222757000-222762000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:222757000-222762400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:222757000-222762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:222757200-222762200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:222757200-222762200	Weak transcription	Fetal Stomach	stomach
42	chr1:222757200-222762200	Weak transcription	Ovary	ovary
43	chr1:222757200-222762400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:222757400-222761800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:222757400-222762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:222757400-222762200	Weak transcription	Fetal Brain Female	brain
47	chr1:222757600-222762400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:222757600-222762400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:222757800-222761800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:222757800-222762200	Weak transcription	HSMMtube	muscle

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