Variant report

Variant	rs17136740
Chromosome Location	chr7:102990226-102990227
allele	A/C/G/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	IRF1	chr7:102990199-102990266	K562	blood:	n/a	chr7:102990205-102990219
2	SPI1	chr7:102990214-102990726	HL-60	blood:	n/a	chr7:102990446-102990459 chr7:102990481-102990494 chr7:102990449-102990456
3	TBP	chr7:102990083-102990272	K562	blood:	n/a	n/a
4	EGR1	chr7:102989965-102990338	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102989850..102992872-chr7:102995534..102998774,5	K562	blood:
2	chr7:102990213..102992153-chr7:103000680..103003475,2	MCF-7	breast:
3	chr7:102983625..102990524-chr7:102994295..102998538,7	MCF-7	breast:
4	chr7:102986930..102989568-chr7:102989846..102992795,3	K562	blood:

Variant related genes	Relation type
PSMC2	TF binding region
DNAJC2	TF binding region
ENSG00000161057	Chromatin interaction
ENSG00000235354	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10224485	1.00[AMR][1000 genomes]
rs10224625	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10250825	1.00[MEX][hapmap]
rs10251394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270034	1.00[MEX][hapmap]
rs10271536	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10276193	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281607	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10486852	0.82[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17142245	1.00[MEX][hapmap]
rs2411084	1.00[AMR][1000 genomes]
rs28439727	0.87[AMR][1000 genomes]
rs28881872	0.89[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2906642	1.00[MEX][hapmap]
rs4478507	0.82[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4999173	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs6465911	1.00[MEX][hapmap]
rs6976639	0.82[YRI][hapmap]
rs7357142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886322	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][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	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102987400-102990400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:102988000-102990600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:102988600-102990800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:102988600-103002400	Weak transcription	Spleen	Spleen
5	chr7:102988800-102990400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:102989000-102990800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr7:102989000-103006200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:102989200-102990800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:102989200-102990800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:102989200-102991000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:102989200-102991000	Weak transcription	Gastric	stomach
12	chr7:102989200-102991000	Weak transcription	Right Ventricle	heart
13	chr7:102989200-102991200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:102989200-102991400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:102989200-102992200	Enhancers	Colon Smooth Muscle	Colon
16	chr7:102989200-102992400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:102989200-102993200	Weak transcription	Aorta	Aorta
18	chr7:102989200-102994800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:102989200-102995800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:102989200-103002400	Weak transcription	Esophagus	oesophagus
21	chr7:102989200-103006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:102989200-103007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:102989200-103010600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:102989200-103011400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:102989200-103013200	Weak transcription	Stomach Mucosa	stomach
26	chr7:102989400-102990400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:102989400-102990600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:102989400-102990600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:102989400-102990800	Transcr. at gene 5' and 3'	K562	blood
30	chr7:102989400-102991000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:102989400-102991200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr7:102989400-102991600	Weak transcription	Placenta	Placenta
33	chr7:102989400-102992400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:102989400-102993000	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:102989600-102990400	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:102989600-102990400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:102989600-102990600	Enhancers	Brain Hippocampus Middle	brain
38	chr7:102989600-102990600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:102989600-102990800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:102989600-102990800	Enhancers	Brain Germinal Matrix	brain
41	chr7:102989600-102991000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:102989600-102991200	Enhancers	Primary B cells from cord blood	blood
43	chr7:102989600-102991200	Enhancers	Adipose Nuclei	Adipose
44	chr7:102989600-102991400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:102989600-102991400	Weak transcription	Fetal Thymus	thymus
46	chr7:102989600-102991400	Enhancers	Rectal Smooth Muscle	rectum
47	chr7:102989600-102991800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr7:102989600-102992800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:102989600-102992800	Weak transcription	Fetal Intestine Small	intestine
50	chr7:102989600-102994800	Weak transcription	Stomach Smooth Muscle	stomach

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