Variant report

Variant	rs35624992
Chromosome Location	chr11:47615798-47615799
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	CHD1	chr11:47615782-47615878	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr11:47615566-47616095	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:47615176-47616112	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:47614982-47616312	H1-neurons	neurons:	n/a	n/a
5	UBTF	chr11:47615636-47615845	K562	blood:	n/a	n/a
6	REST	chr11:47614747-47616524	H1-neurons	neurons:	n/a	chr11:47615231-47615240
7	ZBTB7A	chr11:47615706-47615919	K562	blood:	n/a	n/a
8	CTBP2	chr11:47615005-47616353	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr11:47615140-47616264	H1-hESC	embryonic stem cell:	n/a	chr11:47615682-47615693

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47586403..47589804-chr11:47615450..47617603,3	MCF-7	breast:
2	chr11:47613544..47615870-chr11:47616778..47619516,2	K562	blood:

Variant related genes	Relation type
C1QTNF4	TF binding region
ENSG00000213619	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12363232	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12419692	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12799623	0.82[EUR][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	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825873	chr11:47609306-47616463	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs35624992	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs35624992	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs35624992	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs35624992	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs35624992	C1QTNF4	cis	Muscle Skeletal	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47607000-47632800	Weak transcription	Dnd41	blood
2	chr11:47613400-47616200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr11:47614400-47616200	Bivalent Enhancer	Fetal Thymus	thymus
4	chr11:47614600-47616200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:47614600-47616200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:47614600-47616400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:47614800-47615800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
8	chr11:47614800-47615800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr11:47614800-47616000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:47614800-47616200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:47614800-47616200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:47614800-47616200	Active TSS	Brain Angular Gyrus	brain
13	chr11:47615000-47615800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:47615000-47615800	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr11:47615000-47615800	Enhancers	Gastric	stomach
16	chr11:47615000-47615800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr11:47615000-47616000	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr11:47615000-47616000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:47615000-47616000	Enhancers	Lung	lung
20	chr11:47615000-47616200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr11:47615000-47616200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:47615000-47616200	Bivalent Enhancer	Esophagus	oesophagus
23	chr11:47615000-47616400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:47615000-47616400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr11:47615000-47616400	Bivalent Enhancer	Fetal Heart	heart
26	chr11:47615000-47616400	Bivalent Enhancer	Placenta	Placenta
27	chr11:47615000-47616600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr11:47615000-47616600	Enhancers	Spleen	Spleen
29	chr11:47615200-47615800	Bivalent Enhancer	HUVEC	blood vessel
30	chr11:47615200-47616000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr11:47615200-47616000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:47615200-47616000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr11:47615200-47616000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr11:47615200-47616000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:47615200-47616000	Bivalent Enhancer	Fetal Lung	lung
36	chr11:47615200-47616200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:47615200-47616200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:47615200-47616200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr11:47615200-47616200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr11:47615200-47616200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr11:47615200-47616200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr11:47615200-47616400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:47615200-47616400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr11:47615200-47616400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr11:47615200-47616600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:47615200-47616600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:47615200-47616600	Active TSS	Fetal Brain Female	brain
48	chr11:47615200-47616800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:47615400-47615800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:47615400-47615800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood

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