Variant report

Variant	rs7993370
Chromosome Location	chr13:30393857-30393858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11843295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073884	1.00[AMR][1000 genomes]
rs28412297	1.00[AMR][1000 genomes]
rs59191836	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61497074	1.00[AMR][1000 genomes]
rs73446257	1.00[AMR][1000 genomes]
rs73446273	1.00[AMR][1000 genomes]
rs73446281	1.00[AMR][1000 genomes]
rs73446285	1.00[AMR][1000 genomes]
rs73448207	1.00[AMR][1000 genomes]
rs73448217	1.00[AMR][1000 genomes]
rs7997787	0.96[AFR][1000 genomes];1.00[AMR][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30385800-30403000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30385800-30406800	Weak transcription	Pancreas	Pancrea
4	chr13:30385800-30410600	Weak transcription	Small Intestine	intestine
5	chr13:30386000-30406200	Weak transcription	Fetal Intestine Small	intestine
6	chr13:30386800-30394000	Weak transcription	Stomach Mucosa	stomach
7	chr13:30389000-30395800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:30389800-30394200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:30390400-30394400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr13:30390600-30394200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr13:30390600-30394400	Enhancers	Primary B cells from peripheral blood	blood
12	chr13:30390600-30394600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr13:30390800-30394000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr13:30391000-30394400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:30391200-30394000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr13:30391200-30410600	Weak transcription	Ovary	ovary
17	chr13:30392000-30415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:30392600-30397600	Weak transcription	NHDF-Ad	bronchial
19	chr13:30392800-30394000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr13:30392800-30394200	Enhancers	Primary B cells from cord blood	blood
21	chr13:30393000-30394200	Enhancers	Primary hematopoietic stem cells	blood
22	chr13:30393000-30394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:30393000-30404400	Weak transcription	Osteobl	bone
24	chr13:30393200-30396600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:30393200-30404200	Weak transcription	HSMM	muscle
26	chr13:30393600-30394400	Enhancers	GM12878-XiMat	blood
27	chr13:30393600-30395000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr13:30393600-30396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:30393800-30394000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:30393800-30394000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:30393800-30394200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr13:30393800-30394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:30393800-30395400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr13:30393800-30406800	Weak transcription	Primary T cells from cord blood	blood
35	chr13:30393800-30406800	Weak transcription	Colon Smooth Muscle	Colon

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