Variant report

Variant	rs9658685
Chromosome Location	chr10:90755400-90755401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr10:90755165-90755487	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr10:90755180-90755485	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:90755285-90755847	GM12878	blood:	n/a	n/a
4	WRNIP1	chr10:90754995-90755746	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:90754865-90755809	GM12892	blood:	n/a	n/a
6	POLR2A	chr10:90754915-90755835	GM12878	blood:	n/a	n/a
7	GATA1	chr10:90755110-90756007	PBDE	blood:	n/a	chr10:90755114-90755124
8	FOS	chr10:90755144-90755470	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr10:90755371-90755850	GM12892	blood:	n/a	n/a
10	FOS	chr10:90755167-90755468	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr10:90754863-90756068	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:90754951-90755665	Raji	blood:	n/a	n/a
13	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr10:90755088-90756172	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ACTA2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10788624	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10887876	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11202917	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11202922	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1159120	0.83[ASN][1000 genomes]
rs2147418	0.83[ASN][1000 genomes]
rs2234767	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781204	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4934433	0.81[ASN][1000 genomes]
rs6586160	0.84[ASN][1000 genomes]
rs6586161	0.82[ASN][1000 genomes]
rs7076197	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7097467	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7920305	0.83[ASN][1000 genomes]
rs9325603	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
2	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
4	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
5	chr10:90752200-90755800	Weak transcription	Fetal Intestine Large	intestine
6	chr10:90752200-90757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:90753000-90758600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr10:90753000-90761400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:90753400-90756400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:90753400-90756600	Weak transcription	Primary B cells from cord blood	blood
14	chr10:90753400-90761600	Weak transcription	Aorta	Aorta
15	chr10:90753800-90760400	Weak transcription	Brain Anterior Caudate	brain
16	chr10:90754000-90755600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:90754000-90755800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:90754000-90755800	Enhancers	NHEK	skin
19	chr10:90754000-90756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:90754000-90759000	Weak transcription	HSMMtube	muscle
21	chr10:90754000-90760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:90754000-90760800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:90754000-90761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:90754000-90761000	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:90754000-90761200	Weak transcription	NH-A	brain
26	chr10:90754000-90779400	Weak transcription	HepG2	liver
27	chr10:90754000-90789600	Weak transcription	A549	lung
28	chr10:90754200-90755400	Weak transcription	NHLF	lung
29	chr10:90754200-90755600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr10:90754200-90756400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr10:90754200-90756400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:90754200-90756600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:90754200-90757600	Weak transcription	HMEC	breast
34	chr10:90754200-90759000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:90754200-90759000	Enhancers	NHDF-Ad	bronchial
36	chr10:90754200-90759200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:90754200-90759400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:90754200-90759400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:90754200-90760400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:90754200-90761000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr10:90754200-90763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:90754200-90767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:90754400-90755800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:90754400-90759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:90754400-90761200	Weak transcription	HSMM	muscle
46	chr10:90754800-90755400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:90754800-90756000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:90754800-90756000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr10:90754800-90756200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr10:90754800-90756200	Enhancers	Stomach Mucosa	stomach

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