Variant report

Variant	rs540500242
Chromosome Location	chr7:104826716-104826717
allele	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	CEBPB	chr7:104826696-104826784	K562	blood:	n/a	n/a
2	CEBPB	chr7:104826634-104826730	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104807370..104809469-chr7:104824579..104827530,2	MCF-7	breast:
2	chr7:104824422..104827358-chr7:104839079..104842407,3	K562	blood:

Variant related genes	Relation type
ENSG00000270764	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
2	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
3	chr7:104806400-104838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:104806600-104836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104806600-104842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:104807600-104829800	Weak transcription	Thymus	Thymus
7	chr7:104809000-104836600	Weak transcription	HSMM	muscle
8	chr7:104809000-104838800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:104809600-104838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:104809800-104838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:104810200-104840600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:104814000-104839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:104814200-104827000	Weak transcription	Pancreas	Pancrea
14	chr7:104815600-104836600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:104819800-104829400	Weak transcription	Brain Angular Gyrus	brain
16	chr7:104820000-104827800	Weak transcription	Stomach Mucosa	stomach
17	chr7:104820800-104833800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:104821000-104828400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:104821000-104829200	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:104821000-104829800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:104821000-104838400	Weak transcription	Fetal Lung	lung
22	chr7:104821200-104830000	Weak transcription	Fetal Thymus	thymus
23	chr7:104821200-104830400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:104821600-104838400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:104822000-104836400	Weak transcription	A549	lung
26	chr7:104822000-104858800	Weak transcription	Gastric	stomach
27	chr7:104822800-104838200	Weak transcription	Primary T cells from cord blood	blood
28	chr7:104823600-104829400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:104823600-104848600	Strong transcription	Dnd41	blood
30	chr7:104824800-104828800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:104825000-104837800	Weak transcription	NH-A	brain
32	chr7:104825200-104829800	Enhancers	HMEC	breast
33	chr7:104826000-104826800	Enhancers	Osteobl	bone
34	chr7:104826200-104827400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:104826200-104829800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:104826200-104831600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:104826400-104826800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:104826400-104827600	Weak transcription	Brain Anterior Caudate	brain
39	chr7:104826400-104828000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:104826400-104828400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:104826400-104828600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:104826400-104830400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:104826400-104831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:104826600-104827000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:104826600-104827400	Enhancers	GM12878-XiMat	blood
46	chr7:104826600-104827400	Enhancers	NHEK	skin
47	chr7:104826600-104828000	Strong transcription	Primary B cells from cord blood	blood
48	chr7:104826600-104830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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