Variant report

Variant	rs2805771
Chromosome Location	chr9:100504015-100504016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr9:100503376-100504086	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr9:100503630-100504099	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr9:100503249-100504075	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr9:100503237-100504117	MCF-7	breast:	n/a	chr9:100503579-100503589
5	ZNF143	chr9:100503416-100504074	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP4	chr9:100503701-100504112	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr9:100503248-100504247	H1-hESC	embryonic stem cell:	n/a	chr9:100503579-100503589
8	MAX	chr9:100503285-100504133	H1-hESC	embryonic stem cell:	n/a	chr9:100503579-100503589
9	BACH1	chr9:100503546-100504031	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr9:100503345-100504051	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr9:100503428-100504051	K562	blood:	n/a	chr9:100503579-100503589
12	MAX	chr9:100503279-100504031	ECC-1	luminal epithelium:	n/a	chr9:100503579-100503589
13	UBTF	chr9:100503327-100504048	K562	blood:	n/a	n/a
14	E2F6	chr9:100503289-100504356	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr9:100503264-100504193	H1-hESC	embryonic stem cell:	n/a	n/a
16	UBTF	chr9:100503555-100504107	K562	blood:	n/a	n/a
17	POLR2A	chr9:100503456-100504023	MCF-7	breast:	n/a	n/a
18	NANOG	chr9:100503534-100504028	H1-hESC	embryonic stem cell:	n/a	n/a
19	CCNT2	chr9:100503632-100504021	K562	blood:	n/a	chr9:100503895-100503915

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100503142..100505275-chr9:100512495..100514714,2	MCF-7	breast:
2	chr9:100501560..100504087-chr9:100522833..100525239,2	K562	blood:
3	chr9:100501919..100504802-chr9:100515954..100517460,2	K562	blood:
4	chr9:100496207..100499449-chr9:100501174..100504756,3	MCF-7	breast:
5	chr9:100503377..100504989-chr9:100510733..100512469,2	MCF-7	breast:
6	chr9:100502255..100504142-chr9:100516213..100518800,2	MCF-7	breast:
7	chr9:100457984..100460168-chr9:100502193..100505090,2	MCF-7	breast:
8	chr9:100501080..100504475-chr9:100513042..100515549,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260677	TF binding region
ENSG00000136936	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs16922598	1.00[JPT][hapmap]
rs2244833	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2668794	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2668795	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2668796	0.97[EUR][1000 genomes]
rs2668797	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2668799	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2668802	0.98[EUR][1000 genomes]
rs2668803	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2668804	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2668805	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2773344	1.00[JPT][hapmap]
rs2773350	1.00[JPT][hapmap]
rs2773354	1.00[JPT][hapmap]
rs2805768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805769	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805770	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805774	1.00[JPT][hapmap]
rs2805778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805780	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805781	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805782	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805784	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805789	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805790	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805794	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805795	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2805796	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805797	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2805798	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805799	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805800	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2805809	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805811	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805812	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805813	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805814	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805815	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805816	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805817	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805818	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805820	0.98[EUR][1000 genomes]
rs2805822	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2805831	1.00[JPT][hapmap]
rs2805835	1.00[JPT][hapmap]
rs2808681	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2808682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2808684	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2808688	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2808693	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2808695	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2808696	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2808697	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2808698	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2808699	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808700	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808702	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62560521	0.84[EUR][1000 genomes]
rs7864297	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7874554	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7875449	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7875482	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs953198	1.00[CEU][hapmap];0.97[EUR][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	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv614934	chr9:100482976-100550253	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100503000-100504200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:100503000-100504200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr9:100503200-100504200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr9:100503200-100504200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:100503200-100504200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:100503200-100504200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:100503200-100504200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:100503200-100504200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr9:100503200-100504200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr9:100503200-100504200	Flanking Active TSS	NHEK	skin
11	chr9:100503400-100504200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr9:100503400-100504200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:100503400-100504200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:100503400-100504200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:100503400-100504200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:100503400-100504200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr9:100503400-100504200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:100503400-100504200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr9:100503400-100504200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:100503400-100504200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:100503400-100504200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr9:100503400-100504200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:100503400-100504200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr9:100503400-100504200	Active TSS	Colon Smooth Muscle	Colon
25	chr9:100503400-100504200	Enhancers	Lung	lung
26	chr9:100503600-100504200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr9:100503600-100504200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:100503600-100504200	Active TSS	Rectal Smooth Muscle	rectum
29	chr9:100503800-100504200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr9:100503800-100504200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr9:100503800-100504200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr9:100503800-100504200	Flanking Active TSS	Esophagus	oesophagus
33	chr9:100503800-100504200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr9:100503800-100504400	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr9:100504000-100504200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:100504000-100504200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:100504000-100504200	Bivalent Enhancer	Primary T cells from cord blood	blood
38	chr9:100504000-100504200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr9:100504000-100504200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr9:100504000-100504200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr9:100504000-100504200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:100504000-100504200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:100504000-100504200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:100504000-100504200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:100504000-100504200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:100504000-100504200	Active TSS	Duodenum Mucosa	Duodenum
47	chr9:100504000-100504200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr9:100504000-100504200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr9:100504000-100504200	Bivalent Enhancer	Placenta	Placenta
50	chr9:100504000-100504200	Bivalent Enhancer	Fetal Stomach	stomach

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