Variant report

Variant	rs13228385
Chromosome Location	chr7:38219145-38219146
allele	C/T
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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11561858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155282	0.84[AMR][1000 genomes]
rs12155480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12701609	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701612	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12701619	0.84[AMR][1000 genomes]
rs13224408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13228253	0.81[EUR][1000 genomes]
rs13230963	0.84[AMR][1000 genomes]
rs13235913	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13241002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244147	0.84[AMR][1000 genomes]
rs13244639	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17171309	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17171318	0.84[AMR][1000 genomes]
rs17171319	0.84[AMR][1000 genomes]
rs2075008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270170	0.84[AMR][1000 genomes]
rs34053049	0.84[AMR][1000 genomes]
rs34362539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34367511	0.84[AMR][1000 genomes]
rs34385844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34723472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34809818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854936	0.82[EUR][1000 genomes]
rs34928238	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938473	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34954380	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35130602	0.84[AMR][1000 genomes]
rs35268837	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35505895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35506556	0.84[AMR][1000 genomes]
rs35849318	0.82[EUR][1000 genomes]
rs35899177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546635	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71546636	0.86[EUR][1000 genomes]
rs71548605	0.84[AMR][1000 genomes]
rs7349990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795457	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638936	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	chr7:38217200-38219200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:38217200-38219200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:38217200-38219200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:38217200-38219200	Active TSS	Rectal Smooth Muscle	rectum
10	chr7:38217200-38219400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:38217200-38219400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:38217200-38219400	Active TSS	Ovary	ovary
13	chr7:38217200-38219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:38217200-38219600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:38217200-38220000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:38217200-38220000	Active TSS	Stomach Smooth Muscle	stomach
17	chr7:38217200-38220600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:38218200-38219600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:38218400-38219400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:38218400-38219400	Weak transcription	Spleen	Spleen
21	chr7:38218400-38219600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:38218400-38219800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr7:38218400-38220000	Flanking Active TSS	Dnd41	blood
24	chr7:38218400-38220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:38218400-38220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:38218400-38223400	Weak transcription	Small Intestine	intestine
27	chr7:38218400-38225000	Weak transcription	Gastric	stomach
28	chr7:38218600-38219200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr7:38218600-38219200	Flanking Active TSS	Fetal Kidney	kidney
30	chr7:38218600-38219200	Flanking Active TSS	HepG2	liver
31	chr7:38218600-38219400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:38218600-38219400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:38218600-38219400	Weak transcription	Left Ventricle	heart
34	chr7:38218600-38219400	Weak transcription	Lung	lung
35	chr7:38218600-38219400	Weak transcription	Pancreas	Pancrea
36	chr7:38218600-38219600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr7:38218600-38219600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr7:38218600-38219600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr7:38218600-38219600	Flanking Active TSS	Fetal Brain Male	brain
40	chr7:38218600-38219600	Flanking Active TSS	Fetal Heart	heart
41	chr7:38218600-38219600	Flanking Active TSS	NHEK	skin
42	chr7:38218600-38219800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:38218600-38219800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:38218600-38220000	Flanking Active TSS	HMEC	breast
45	chr7:38218600-38220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:38218600-38220200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:38218600-38220600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr7:38218600-38221000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:38218600-38221200	Flanking Active TSS	HUVEC	blood vessel
50	chr7:38218600-38221600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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