Variant report

Variant	rs57700326
Chromosome Location	chr3:51428887-51428888
allele	C/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51428771..51431051-chr3:51571775..51574665,3	K562	blood:
2	chr17:57922139..57925404-chr3:51428160..51430774,3	MCF-7	breast:
3	chr3:51428405..51432279-chr3:51464614..51468207,4	MCF-7	breast:
4	chr3:51428671..51429493-chr8:125486419..125487202,2	HCT-116	colon:
5	chr3:50649338..50651152-chr3:51428545..51430321,2	MCF-7	breast:
6	chr3:51428575..51432934-chr3:51531325..51537191,8	K562	blood:
7	chr3:50647669..50650476-chr3:51428019..51429805,2	K562	blood:
8	chr3:50649298..50656086-chr3:51426248..51430836,9	MCF-7	breast:
9	chr3:50648976..50652431-chr3:51425600..51429805,4	K562	blood:
10	chr3:51427878..51430154-chr3:51533292..51535600,2	MCF-7	breast:
11	chr2:85645794..85646398-chr3:51428484..51429092,2	HCT-116	colon:
12	chr3:51426988..51429067-chr3:51532869..51536301,5	K562	blood:
13	chr3:51427089..51429647-chr3:51532056..51534012,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114737	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000145041	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10510757	0.81[ASN][1000 genomes]
rs10510758	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12485610	0.81[ASN][1000 genomes]
rs12487426	0.81[ASN][1000 genomes]
rs12487468	0.82[ASN][1000 genomes]
rs12489414	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12490471	0.81[ASN][1000 genomes]
rs12490889	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12491048	0.86[ASN][1000 genomes]
rs12492624	0.81[ASN][1000 genomes]
rs12493618	0.86[ASN][1000 genomes]
rs12493857	0.81[ASN][1000 genomes]
rs12493978	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12494462	0.81[ASN][1000 genomes]
rs12494979	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13090348	0.86[ASN][1000 genomes]
rs1370124	0.85[ASN][1000 genomes]
rs17051783	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17661242	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17712228	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2033703	0.85[ASN][1000 genomes]
rs2082992	0.80[ASN][1000 genomes]
rs2217938	0.87[ASN][1000 genomes]
rs2241785	0.86[ASN][1000 genomes]
rs2304512	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2306430	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2306431	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2356261	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2356298	0.81[ASN][1000 genomes]
rs3749317	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3792408	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3804766	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3828395	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4687601	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4687605	0.81[ASN][1000 genomes]
rs4687610	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4687656	0.80[ASN][1000 genomes]
rs4687731	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4687777	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4687803	0.81[AMR][1000 genomes]
rs4687811	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4687812	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4687813	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4974096	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56239081	0.81[ASN][1000 genomes]
rs56729479	0.81[ASN][1000 genomes]
rs57027950	0.86[ASN][1000 genomes]
rs57047724	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57603251	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57831708	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58059174	0.81[ASN][1000 genomes]
rs58568178	0.86[ASN][1000 genomes]
rs58836277	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59563413	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59953568	0.83[ASN][1000 genomes]
rs60606339	0.81[ASN][1000 genomes]
rs61419317	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72945708	0.85[ASN][1000 genomes]
rs72945713	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72951443	0.81[AMR][1000 genomes]
rs73834252	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73834253	0.83[ASN][1000 genomes]
rs73834254	0.83[ASN][1000 genomes]
rs73834258	0.81[ASN][1000 genomes]
rs73837439	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73837442	0.87[ASN][1000 genomes]
rs73837443	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs751076	0.81[AMR][1000 genomes]
rs880478	0.81[AMR][1000 genomes]
rs9820140	0.88[AMR][1000 genomes];0.86[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	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51426800-51429200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:51428000-51430000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr3:51428000-51430000	Active TSS	Fetal Kidney	kidney
4	chr3:51428000-51430200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:51428200-51429200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:51428200-51429600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:51428200-51429600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr3:51428200-51429600	Active TSS	Aorta	Aorta
9	chr3:51428200-51429600	Active TSS	Ovary	ovary
10	chr3:51428200-51429600	Active TSS	Psoas Muscle	Psoas
11	chr3:51428200-51429600	Active TSS	A549	lung
12	chr3:51428200-51430000	Active TSS	HSMMtube	muscle
13	chr3:51428200-51430200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:51428400-51429000	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr3:51428400-51429200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:51428400-51429200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:51428400-51429200	Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr3:51428400-51429200	Active TSS	Primary T cells from cord blood	blood
19	chr3:51428400-51429200	Active TSS	Primary hematopoietic stem cells	blood
20	chr3:51428400-51429200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:51428400-51429200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:51428400-51429200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:51428400-51429200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:51428400-51429200	Active TSS	Adipose Nuclei	Adipose
25	chr3:51428400-51429200	Active TSS	Brain Cingulate Gyrus	brain
26	chr3:51428400-51429200	Active TSS	Brain Hippocampus Middle	brain
27	chr3:51428400-51429200	Active TSS	Colonic Mucosa	Colon
28	chr3:51428400-51429200	Active TSS	Left Ventricle	heart
29	chr3:51428400-51429200	Active TSS	Pancreas	Pancrea
30	chr3:51428400-51429200	Active TSS	Right Ventricle	heart
31	chr3:51428400-51429200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:51428400-51429400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:51428400-51429400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr3:51428400-51429400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr3:51428400-51429400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:51428400-51429400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:51428400-51429400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:51428400-51429400	Active TSS	Liver	Liver
39	chr3:51428400-51429400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:51428400-51429400	Active TSS	Esophagus	oesophagus
41	chr3:51428400-51429400	Active TSS	Lung	lung
42	chr3:51428400-51429400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr3:51428400-51429400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:51428400-51429400	Weak transcription	Stomach Mucosa	stomach
45	chr3:51428400-51429400	Active TSS	Thymus	Thymus
46	chr3:51428400-51429400	Active TSS	HUVEC	blood vessel
47	chr3:51428400-51429400	Active TSS	NH-A	brain
48	chr3:51428400-51429400	Active TSS	Osteobl	bone
49	chr3:51428400-51429600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:51428400-51429600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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