Variant report

Variant	rs6978804
Chromosome Location	chr7:2902698-2902699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
2	chr7:2882197..2885853-chr7:2900673..2904379,6	MCF-7	breast:
3	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
4	chr7:2841055..2843126-chr7:2902471..2904345,2	MCF-7	breast:
5	chr7:2882306..2885910-chr7:2901296..2905578,5	MCF-7	breast:
6	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
7	chr7:2725769..2728624-chr7:2901720..2905056,3	MCF-7	breast:
8	chr7:2897460..2900417-chr7:2901326..2905406,6	K562	blood:
9	chr7:2901153..2906506-chr7:2906847..2911402,6	K562	blood:
10	chr7:2871491..2874448-chr7:2900692..2903272,2	MCF-7	breast:
11	chr7:2893756..2895887-chr7:2901589..2904569,2	K562	blood:
12	chr7:2901153..2903496-chr7:2907238..2910206,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11765386	0.82[AMR][1000 genomes]
rs11765473	0.82[AMR][1000 genomes]
rs11766514	0.82[AMR][1000 genomes]
rs11768001	0.82[AMR][1000 genomes]
rs11769669	0.82[AMR][1000 genomes]
rs11770710	0.82[AMR][1000 genomes]
rs11772176	0.82[AMR][1000 genomes]
rs1182154	0.86[EUR][1000 genomes]
rs28706013	0.84[AMR][1000 genomes]
rs35450876	0.82[AMR][1000 genomes]
rs55752034	0.81[AMR][1000 genomes]
rs56296737	0.82[AMR][1000 genomes]
rs6978793	0.82[AFR][1000 genomes]
rs73033432	0.84[AMR][1000 genomes]
rs73033460	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73033466	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73033479	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers 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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2884600-2902800	Weak transcription	Right Ventricle	heart
2	chr7:2891600-2902800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:2895800-2902800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:2897400-2902800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:2898800-2902800	Weak transcription	HSMMtube	muscle
6	chr7:2898800-2903200	Weak transcription	Thymus	Thymus
7	chr7:2900000-2902800	Weak transcription	Pancreas	Pancrea
8	chr7:2900600-2902800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:2900600-2902800	Weak transcription	K562	blood
10	chr7:2900600-2903000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:2900600-2903000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:2900600-2903600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:2900600-2903600	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:2900600-2904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:2900600-2910400	Weak transcription	Esophagus	oesophagus
16	chr7:2900800-2902800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:2900800-2903200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:2900800-2903200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:2901600-2905200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:2901800-2903200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:2902000-2902800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:2902000-2903000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:2902000-2903000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:2902000-2903000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:2902000-2903000	Enhancers	Ovary	ovary
26	chr7:2902000-2903000	Enhancers	NHLF	lung
27	chr7:2902000-2903200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:2902000-2903200	Enhancers	Primary T cells from cord blood	blood
29	chr7:2902000-2903200	Enhancers	HUVEC	blood vessel
30	chr7:2902000-2904800	Enhancers	Primary hematopoietic stem cells	blood
31	chr7:2902000-2905000	Enhancers	NHDF-Ad	bronchial
32	chr7:2902000-2905200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:2902000-2905200	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:2902000-2905200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:2902200-2903000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:2902200-2904800	Enhancers	Spleen	Spleen
37	chr7:2902200-2905000	Enhancers	Placenta	Placenta
38	chr7:2902200-2905200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:2902400-2902800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:2902400-2902800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:2902400-2903800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr7:2902400-2905000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr7:2902400-2905000	Enhancers	Lung	lung
44	chr7:2902600-2902800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:2902600-2902800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:2902600-2902800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:2902600-2902800	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:2902600-2902800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr7:2902600-2902800	Enhancers	Small Intestine	intestine
50	chr7:2902600-2902800	Enhancers	GM12878-XiMat	blood

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