Variant report

Variant	rs11558147
Chromosome Location	chr10:112633671-112633672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:112630386-112634137	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr10:112633333-112633683	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr10:112633144-112633747	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:112630627-112634252	GM12878	blood:	n/a	n/a
5	MXI1	chr10:112630929-112634169	IMR90	lung:	n/a	n/a
6	CHD1	chr10:112630625-112634072	IMR90	lung:	n/a	chr10:112632208-112632218 chr10:112632079-112632089
7	MXI1	chr10:112633287-112633788	K562	blood:	n/a	n/a
8	POLR2A	chr10:112629899-112634013	GM12891	blood:	n/a	n/a
9	MAX	chr10:112633134-112633844	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:112630864-112637039	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:112631001..112634625-chr10:112648231..112651298,3	MCF-7	breast:
2	chr10:112630838..112635784-chr10:112676837..112681433,10	K562	blood:
3	chr10:112632404..112635995-chr10:112677494..112680497,3	MCF-7	breast:
4	chr10:112507490..112509874-chr10:112633419..112635182,2	K562	blood:
5	chr10:112630522..112633740-chr10:112677502..112680452,8	K562	blood:
6	chr10:112630933..112635987-chr10:112638238..112642004,12	MCF-7	breast:
7	chr10:112506327..112507861-chr10:112632339..112634018,2	MCF-7	breast:
8	chr10:112632441..112634715-chr8:128746659..128749011,2	MCF-7	breast:
9	chr10:112580755..112589346-chr10:112627817..112636075,27	MCF-7	breast:
10	chr10:112485811..112488574-chr10:112632571..112634625,2	MCF-7	breast:
11	chr10:112630166..112634091-chr10:112649118..112655902,7	MCF-7	breast:
12	chr10:112563889..112566843-chr10:112632108..112634836,3	MCF-7	breast:
13	chr10:112593951..112595858-chr10:112632498..112635240,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDCD4-AS1	TF binding region
ENSG00000136997	Chromatin interaction
ENSG00000108061	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000203867	Chromatin interaction
ENSG00000214413	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11195405	0.84[AMR][1000 genomes]
rs12569835	0.85[ASN][1000 genomes]
rs12572049	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17128130	0.90[ASN][1000 genomes]
rs17128212	0.81[ASN][1000 genomes]
rs2295992	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4391757	0.87[ASN][1000 genomes]
rs55794717	0.84[ASN][1000 genomes]
rs56233990	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56784382	0.84[ASN][1000 genomes]
rs56946887	0.85[ASN][1000 genomes]
rs58164562	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7072811	0.90[ASN][1000 genomes]
rs7073594	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7073880	0.82[ASN][1000 genomes]
rs7097063	0.81[EUR][1000 genomes]
rs73343848	0.87[ASN][1000 genomes]
rs73343859	0.87[ASN][1000 genomes]
rs73343879	0.84[ASN][1000 genomes]
rs74156313	0.83[ASN][1000 genomes]
rs7900174	0.81[EUR][1000 genomes]
rs7911601	0.81[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	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112631000-112633800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr10:112631000-112634000	Active TSS	Aorta	Aorta
3	chr10:112631000-112634000	Active TSS	Psoas Muscle	Psoas
4	chr10:112631000-112634200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:112631200-112633800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr10:112631200-112633800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:112631200-112633800	Active TSS	Small Intestine	intestine
8	chr10:112631200-112634000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:112631200-112634000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:112631200-112634000	Active TSS	Brain Hippocampus Middle	brain
11	chr10:112631200-112634000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:112631200-112634000	Active TSS	Right Ventricle	heart
13	chr10:112631200-112634000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr10:112631200-112634000	Active TSS	Thymus	Thymus
15	chr10:112631200-112634000	Active TSS	HSMM	muscle
16	chr10:112631200-112634200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:112631200-112634200	Active TSS	Colonic Mucosa	Colon
18	chr10:112631200-112634600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:112631200-112634600	Active TSS	Colon Smooth Muscle	Colon
20	chr10:112631200-112634600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr10:112631200-112634800	Active TSS	Fetal Brain Female	brain
22	chr10:112631200-112634800	Active TSS	Ovary	ovary
23	chr10:112631200-112635000	Active TSS	Duodenum Mucosa	Duodenum
24	chr10:112631400-112633800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr10:112631400-112633800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:112631400-112633800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:112631400-112633800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:112631400-112633800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:112631400-112633800	Active TSS	Primary B cells from peripheral blood	blood
30	chr10:112631400-112633800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:112631400-112633800	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr10:112631400-112633800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr10:112631400-112633800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr10:112631400-112633800	Active TSS	Adipose Nuclei	Adipose
35	chr10:112631400-112633800	Active TSS	Fetal Lung	lung
36	chr10:112631400-112633800	Active TSS	Fetal Muscle Leg	muscle
37	chr10:112631400-112633800	Active TSS	Rectal Smooth Muscle	rectum
38	chr10:112631400-112633800	Active TSS	A549	lung
39	chr10:112631400-112633800	Active TSS	Hela-S3	cervix
40	chr10:112631400-112633800	Active TSS	NHEK	skin
41	chr10:112631400-112633800	Active TSS	NHLF	lung
42	chr10:112631400-112633800	Active TSS	Osteobl	bone
43	chr10:112631400-112634000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:112631400-112634000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:112631400-112634000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:112631400-112634000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:112631400-112634000	Active TSS	Fetal Brain Male	brain
48	chr10:112631400-112634000	Active TSS	Fetal Muscle Trunk	muscle
49	chr10:112631400-112634000	Active TSS	NH-A	brain
50	chr10:112631400-112634200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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