Variant report

Variant	rs59748716
Chromosome Location	chr7:38218851-38218852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38218320..38221053-chr7:38246020..38247686,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12111691	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12112821	1.00[AMR][1000 genomes]
rs55670304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55969247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57190517	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57234454	0.84[AMR][1000 genomes]
rs73348615	1.00[AMR][1000 genomes]
rs73348622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348627	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348628	1.00[AMR][1000 genomes]
rs73348650	1.00[AMR][1000 genomes]
rs73348667	1.00[AMR][1000 genomes]
rs73693871	1.00[AMR][1000 genomes]
rs73693875	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38217000-38219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:38217000-38219400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:38217000-38219400	Active TSS	GM12878-XiMat	blood
4	chr7:38217000-38219600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:38217000-38219800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:38217200-38219000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:38217200-38219000	Active TSS	Colon Smooth Muscle	Colon
8	chr7:38217200-38219000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:38217200-38219000	Active TSS	Fetal Muscle Leg	muscle
10	chr7:38217200-38219000	Active TSS	Right Atrium	heart
11	chr7:38217200-38219000	Active TSS	Right Ventricle	heart
12	chr7:38217200-38219000	Active TSS	HSMMtube	muscle
13	chr7:38217200-38219200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:38217200-38219200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:38217200-38219200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:38217200-38219200	Active TSS	Rectal Smooth Muscle	rectum
17	chr7:38217200-38219400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:38217200-38219400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:38217200-38219400	Active TSS	Ovary	ovary
20	chr7:38217200-38219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:38217200-38219600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:38217200-38220000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:38217200-38220000	Active TSS	Stomach Smooth Muscle	stomach
24	chr7:38217200-38220600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr7:38217400-38219000	Active TSS	Aorta	Aorta
26	chr7:38217400-38219000	Active TSS	NHDF-Ad	bronchial
27	chr7:38217400-38219000	Active TSS	NHLF	lung
28	chr7:38217600-38219000	Active TSS	HSMM	muscle
29	chr7:38218000-38219000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr7:38218200-38219000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr7:38218200-38219000	Active TSS	Brain Germinal Matrix	brain
32	chr7:38218200-38219600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:38218400-38219000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr7:38218400-38219000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:38218400-38219400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:38218400-38219400	Weak transcription	Spleen	Spleen
37	chr7:38218400-38219600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:38218400-38219800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr7:38218400-38220000	Flanking Active TSS	Dnd41	blood
40	chr7:38218400-38220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:38218400-38220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:38218400-38223400	Weak transcription	Small Intestine	intestine
43	chr7:38218400-38225000	Weak transcription	Gastric	stomach
44	chr7:38218600-38219000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:38218600-38219000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:38218600-38219000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:38218600-38219000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:38218600-38219000	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr7:38218600-38219000	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr7:38218600-38219000	Flanking Active TSS	Fetal Intestine Small	intestine

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