Variant report

Variant	rs10983958
Chromosome Location	chr9:100611182-100611183
allele	C/G
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	CTBP2	chr9:100610470-100611525	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr9:100610293-100612160	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr9:100609498-100612500	NT2-D1	testis:	n/a	n/a
4	SPI1	chr9:100610865-100611261	HL-60	blood:	n/a	chr9:100611037-100611046 chr9:100611145-100611158 chr9:100611036-100611049 chr9:100611035-100611048
5	POLR2A	chr9:100610987-100611361	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
FOXE1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10046805	0.90[ASN][1000 genomes]
rs10818124	0.81[ASN][1000 genomes]
rs10818133	0.90[ASN][1000 genomes]
rs10983853	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10983855	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10983871	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10983889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10983959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156850	0.81[ASN][1000 genomes]
rs12341377	0.90[ASN][1000 genomes]
rs12347191	0.90[ASN][1000 genomes]
rs12348304	0.90[ASN][1000 genomes]
rs12348691	0.90[ASN][1000 genomes]
rs1443434	0.90[ASN][1000 genomes]
rs1443435	0.90[ASN][1000 genomes]
rs1822416	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1867277	0.87[ASN][1000 genomes]
rs1867278	0.81[ASN][1000 genomes]
rs2401638	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2401639	0.90[ASN][1000 genomes]
rs3021526	0.84[ASN][1000 genomes]
rs3758248	0.90[ASN][1000 genomes]
rs3758249	0.90[ASN][1000 genomes]
rs3758251	0.88[ASN][1000 genomes]
rs41274260	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4460498	0.88[ASN][1000 genomes]
rs57541835	0.96[EUR][1000 genomes]
rs6478437	0.90[ASN][1000 genomes]
rs73486634	0.83[EUR][1000 genomes]
rs73486635	0.87[EUR][1000 genomes]
rs7851552	0.90[ASN][1000 genomes]
rs7851660	0.88[ASN][1000 genomes]
rs7870540	0.81[ASN][1000 genomes]
rs7870795	0.81[ASN][1000 genomes]
rs894673	0.90[ASN][1000 genomes]
rs907577	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv6627	chr9:100576258-100621034	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100609600-100611200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chr9:100609800-100611400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:100610000-100611200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr9:100610000-100611400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr9:100610000-100611800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:100610200-100611600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr9:100610400-100611200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:100610400-100611200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:100610400-100611200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:100610400-100611200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:100610400-100611200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr9:100610400-100611400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr9:100610400-100611400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:100610400-100611400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr9:100610400-100611400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr9:100610400-100611400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr9:100610400-100611400	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr9:100610400-100611400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
19	chr9:100610400-100611600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr9:100610400-100611600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr9:100610400-100611600	Bivalent Enhancer	Fetal Thymus	thymus
22	chr9:100610400-100611600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr9:100610400-100612000	Bivalent Enhancer	Spleen	Spleen
24	chr9:100610600-100611200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:100610600-100611400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:100610600-100611400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:100610600-100611400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:100610600-100611400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr9:100610600-100611400	Bivalent Enhancer	Lung	lung
30	chr9:100610600-100611600	Bivalent/Poised TSS	HSMMtube	muscle
31	chr9:100610600-100611800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr9:100610600-100611800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr9:100610800-100611200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:100610800-100611200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:100610800-100611200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:100610800-100611200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr9:100610800-100611200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:100610800-100611200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:100610800-100611200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:100610800-100611200	Bivalent Enhancer	Esophagus	oesophagus
41	chr9:100610800-100611200	Bivalent Enhancer	Placenta	Placenta
42	chr9:100610800-100611200	Enhancers	Gastric	stomach
43	chr9:100610800-100611200	Transcr. at gene 5' and 3'	Right Atrium	heart
44	chr9:100610800-100611200	Flanking Bivalent TSS/Enh	HMEC	breast
45	chr9:100610800-100611400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr9:100610800-100611400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr9:100610800-100611400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
48	chr9:100610800-100611400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr9:100610800-100611400	Bivalent/Poised TSS	NHEK	skin
50	chr9:100610800-100611600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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