Variant report

Variant	rs34104615
Chromosome Location	chr9:94900074-94900075
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	CTCF	chr9:94900006-94901137	A549	lung:	n/a	chr9:94900560-94900576 chr9:94900562-94900575 chr9:94900561-94900582 chr9:94900559-94900577 chr9:94900562-94900571 chr9:94900562-94900575 chr9:94900564-94900574
2	CTCF	chr9:94900040-94900190	WI-38	lung:	n/a	n/a
3	CTCF	chr9:94899960-94900110	GM12875	blood:	n/a	n/a
4	CTCF	chr9:94899940-94900090	GM12872	blood:	n/a	n/a
5	CTCF	chr9:94899960-94900110	SAEC	small airway:	n/a	n/a
6	CTCF	chr9:94900058-94900132	GM12878	blood:	n/a	n/a
7	CTCF	chr9:94899960-94900110	GM12864	blood:	n/a	n/a
8	CTCF	chr9:94900060-94900210	AG09309	skin:	n/a	n/a
9	MAZ	chr9:94900028-94901177	IMR90	lung:	n/a	chr9:94900481-94900490
10	CTCF	chr9:94899960-94900110	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:94897533..94900717-chr9:94902765..94904749,3	MCF-7	breast:
2	chr9:94899264..94900077-chr9:95004607..95005252,2	MCF-7	breast:
3	chr9:94899508..94902437-chr9:95003923..95007845,5	MCF-7	breast:
4	chr9:94897363..94901349-chr9:95056061..95059787,4	K562	blood:
5	chr9:94898446..94901351-chr9:94903571..94905297,4	K562	blood:
6	chr9:94899081..94901349-chr9:95056061..95058658,2	K562	blood:
7	chr9:94898906..94903668-chr9:95086648..95090271,5	MCF-7	breast:
8	chr9:94899950..94900862-chr9:95004789..95005404,2	MCF-7	breast:
9	chr9:94899946..94902668-chr9:94908231..94910049,3	K562	blood:

Variant related genes	Relation type
LINC00475	TF binding region
ENSG00000198000	Chromatin interaction
ENSG00000225511	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10739926	0.83[EUR][1000 genomes]
rs1105085	0.83[EUR][1000 genomes]
rs11794148	0.84[EUR][1000 genomes]
rs1964170	0.81[EUR][1000 genomes]
rs3901406	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62564362	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67451261	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7044352	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94895000-94900200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94896400-94902400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:94896600-94902400	Weak transcription	Spleen	Spleen
4	chr9:94896600-94902800	Weak transcription	Gastric	stomach
5	chr9:94896800-94900200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:94896800-94900200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:94896800-94900200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:94896800-94900200	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:94896800-94900800	Weak transcription	HSMMtube	muscle
10	chr9:94896800-94902600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr9:94896800-94902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:94896800-94902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:94896800-94902800	Weak transcription	Esophagus	oesophagus
14	chr9:94896800-94902800	Weak transcription	Right Atrium	heart
15	chr9:94896800-94902800	Weak transcription	A549	lung
16	chr9:94897000-94900800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:94897200-94900200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:94897200-94901400	Weak transcription	NHLF	lung
19	chr9:94897200-94902400	Weak transcription	Ovary	ovary
20	chr9:94897200-94902800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:94897200-94902800	Weak transcription	HUVEC	blood vessel
22	chr9:94897400-94902400	Weak transcription	Osteobl	bone
23	chr9:94897400-94902800	Weak transcription	NHDF-Ad	bronchial
24	chr9:94897600-94900400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:94897600-94902400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr9:94897600-94902800	Weak transcription	HMEC	breast
27	chr9:94898000-94900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:94898200-94900200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:94899000-94900200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:94899400-94900200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:94899800-94900400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:94899800-94900400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr9:94899800-94901000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr9:94900000-94900600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr9:94900000-94900800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:94900000-94901800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:94900000-94903000	Flanking Active TSS	HepG2	liver

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