Variant report

Variant	rs74046008
Chromosome Location	chr13:30970401-30970402
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30963591..30965165-chr13:30969250..30971365,2	MCF-7	breast:
2	chr13:30968958..30971854-chr13:30981722..30984094,2	MCF-7	breast:
3	chr13:30968472..30970868-chr13:30994775..30998357,4	MCF-7	breast:
4	chr1:35330757..35333004-chr13:30969945..30972502,2	MCF-7	breast:
5	chr13:30969352..30972567-chr13:31037950..31040897,3	MCF-7	breast:
6	chr13:30970361..30972231-chr13:30975578..30977977,2	MCF-7	breast:
7	chr13:30968769..30970411-chr13:31191447..31193805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction
ENSG00000132952	Chromatin interaction
ENSG00000225039	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11839654	1.00[EUR][1000 genomes]
rs17074595	1.00[EUR][1000 genomes]
rs28626651	1.00[EUR][1000 genomes]
rs35109193	1.00[EUR][1000 genomes]
rs55923400	1.00[AMR][1000 genomes]
rs56310320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs611896	1.00[AMR][1000 genomes]
rs61218246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443628	1.00[EUR][1000 genomes]
rs73443656	1.00[EUR][1000 genomes]
rs73443658	1.00[EUR][1000 genomes]
rs73445867	1.00[EUR][1000 genomes]
rs73445892	1.00[EUR][1000 genomes]
rs74043098	1.00[EUR][1000 genomes]
rs74046004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74046005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74046013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74046016	1.00[AMR][1000 genomes]
rs846485	1.00[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	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv2363988	chr13:30969969-30970465	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3426189	chr13:30970061-30970424	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30968600-30970800	Active TSS	Duodenum Mucosa	Duodenum
2	chr13:30968800-30970600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:30968800-30970600	Active TSS	A549	lung
4	chr13:30968800-30970800	Active TSS	Brain Anterior Caudate	brain
5	chr13:30968800-30970800	Active TSS	Brain Hippocampus Middle	brain
6	chr13:30969000-30970800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr13:30969400-30970600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:30969400-30970800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:30969800-30970600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:30970000-30970600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr13:30970000-30970800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:30970000-30970800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:30970000-30970800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:30970000-30970800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr13:30970000-30970800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr13:30970000-30970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr13:30970000-30970800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr13:30970000-30970800	Enhancers	K562	blood
19	chr13:30970000-30971000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr13:30970000-30971000	Enhancers	Fetal Thymus	thymus
21	chr13:30970000-30971400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:30970000-30971400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:30970000-30972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:30970000-30976000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:30970000-30982200	Weak transcription	Esophagus	oesophagus
26	chr13:30970200-30970600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:30970200-30970600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:30970200-30970600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:30970200-30970600	Weak transcription	Fetal Kidney	kidney
30	chr13:30970200-30970800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:30970200-30970800	Enhancers	Primary B cells from peripheral blood	blood
32	chr13:30970200-30970800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr13:30970200-30970800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr13:30970200-30970800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr13:30970200-30970800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:30970200-30970800	Enhancers	Fetal Brain Male	brain
37	chr13:30970200-30970800	Enhancers	Fetal Intestine Small	intestine
38	chr13:30970200-30970800	Enhancers	Thymus	Thymus
39	chr13:30970200-30970800	Enhancers	Dnd41	blood
40	chr13:30970200-30970800	Enhancers	GM12878-XiMat	blood
41	chr13:30970200-30970800	Enhancers	Hela-S3	cervix
42	chr13:30970200-30971000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:30970200-30971800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:30970200-30972400	Weak transcription	Colonic Mucosa	Colon
45	chr13:30970200-30972400	Weak transcription	Fetal Intestine Large	intestine
46	chr13:30970200-30972400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr13:30970200-30972600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:30970200-30972600	Weak transcription	Adipose Nuclei	Adipose
49	chr13:30970200-30972600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:30970200-30972600	Weak transcription	NHDF-Ad	bronchial

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