Variant report

Variant	rs55763387
Chromosome Location	chr10:52380286-52380287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:52380207-52380474	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52361423..52364078-chr10:52378639..52381362,2	K562	blood:
2	chr10:52340514..52343109-chr10:52378678..52380936,3	K562	blood:
3	chr10:52349124..52352049-chr10:52377946..52381102,3	K562	blood:
4	chr10:52369146..52370926-chr10:52380140..52382580,2	MCF-7	breast:
5	chr10:52340909..52343314-chr10:52378678..52381107,3	K562	blood:
6	chr10:52358660..52367648-chr10:52378481..52386533,25	MCF-7	breast:
7	chr10:52174976..52177960-chr10:52379518..52382234,2	K562	blood:
8	chr10:52346537..52348332-chr10:52378536..52380819,2	K562	blood:
9	chr10:52378282..52382247-chr10:52382625..52385315,3	K562	blood:
10	chr10:52356810..52366659-chr10:52378806..52385975,25	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226200	TF binding region
ENSG00000198964	Chromatin interaction
ENSG00000238523	Chromatin interaction
ENSG00000230036	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10826243	0.92[ASN][1000 genomes]
rs10826273	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006328	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006427	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006433	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006434	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006437	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006441	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006452	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006469	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006470	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006473	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11006474	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006476	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006477	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006479	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006493	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12358192	0.92[ASN][1000 genomes]
rs12358348	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12358866	0.92[ASN][1000 genomes]
rs12360512	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17581567	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17582633	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953936	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969688	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56029434	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044934	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56306926	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57002092	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60177889	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904306	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52366000-52381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:52367400-52381400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:52367600-52381400	Weak transcription	NHLF	lung
4	chr10:52367600-52381400	Weak transcription	Osteobl	bone
5	chr10:52371000-52381200	Weak transcription	Fetal Stomach	stomach
6	chr10:52371200-52381600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:52372600-52381600	Weak transcription	Aorta	Aorta
8	chr10:52373000-52380600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:52373200-52380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:52374200-52381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:52374400-52380600	Weak transcription	Fetal Intestine Large	intestine
12	chr10:52374400-52381200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr10:52374400-52381600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:52374400-52381600	Weak transcription	Spleen	Spleen
15	chr10:52374600-52380800	Weak transcription	Fetal Muscle Leg	muscle
16	chr10:52374600-52381600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:52374800-52381600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:52375000-52381600	Weak transcription	Ovary	ovary
19	chr10:52375000-52381600	Weak transcription	Stomach Mucosa	stomach
20	chr10:52375400-52381600	Weak transcription	Left Ventricle	heart
21	chr10:52375400-52381600	Weak transcription	Psoas Muscle	Psoas
22	chr10:52375400-52381800	Weak transcription	Lung	lung
23	chr10:52376600-52381200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr10:52377000-52381600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:52377200-52381400	Enhancers	Primary T cells from cord blood	blood
26	chr10:52377600-52381400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr10:52377800-52381000	Enhancers	Primary B cells from cord blood	blood
28	chr10:52377800-52381200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:52377800-52381200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr10:52377800-52381200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:52377800-52381400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr10:52377800-52381400	Enhancers	NHEK	skin
33	chr10:52378000-52380800	Genic enhancers	K562	blood
34	chr10:52378000-52381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr10:52378000-52381200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr10:52378000-52381400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr10:52378000-52381400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr10:52378000-52381400	Enhancers	HMEC	breast
39	chr10:52378200-52381400	Weak transcription	HSMMtube	muscle
40	chr10:52378400-52380600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr10:52378400-52381000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:52378400-52381200	Enhancers	Fetal Thymus	thymus
43	chr10:52378400-52381400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr10:52378400-52381400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr10:52378400-52381400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr10:52378400-52381600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:52378400-52381600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr10:52378600-52380400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr10:52378600-52381400	Enhancers	Fetal Heart	heart
50	chr10:52378600-52381600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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