Variant report

Variant	rs2816328
Chromosome Location	chr1:226169317-226169318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226168172..226173537-chr1:226248336..226252170,4	K562	blood:
2	chr1:225664099..225665880-chr1:226167899..226170601,2	K562	blood:
3	chr1:226163855..226167681-chr1:226167885..226170495,3	K562	blood:
4	chr1:225813188..225814940-chr1:226168399..226170379,2	K562	blood:
5	chr1:226168356..226170582-chr1:226171716..226173741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11579912	1.00[ASN][1000 genomes]
rs1885254	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1998273	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2755092	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755097	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755100	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2816323	0.81[EUR][1000 genomes]
rs2816324	0.81[EUR][1000 genomes]
rs2816326	0.83[EUR][1000 genomes]
rs67523369	0.86[EUR][1000 genomes]
rs72757041	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73100512	0.86[EUR][1000 genomes]
rs74148404	1.00[ASN][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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226162400-226173000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:226163600-226175800	Weak transcription	Aorta	Aorta
4	chr1:226163800-226174400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:226163800-226175400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:226163800-226175600	Weak transcription	Gastric	stomach
7	chr1:226163800-226175800	Weak transcription	Esophagus	oesophagus
8	chr1:226163800-226178800	Weak transcription	Right Ventricle	heart
9	chr1:226164000-226171200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:226164000-226171200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:226164000-226172800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:226164200-226171200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:226164400-226179000	Weak transcription	Small Intestine	intestine
14	chr1:226164600-226169800	Strong transcription	Thymus	Thymus
15	chr1:226164600-226182800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:226164600-226183000	Strong transcription	Placenta	Placenta
17	chr1:226165000-226170200	Strong transcription	Lung	lung
18	chr1:226165000-226178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:226165000-226183600	Strong transcription	Adipose Nuclei	Adipose
20	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:226165200-226169400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:226165200-226169400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:226165200-226169600	Strong transcription	Fetal Thymus	thymus
24	chr1:226165200-226169800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:226165200-226171600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:226165200-226174600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:226165200-226183200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:226165200-226183400	Strong transcription	Osteobl	bone
29	chr1:226165400-226176800	Strong transcription	HSMM	muscle
30	chr1:226165400-226182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:226165400-226183000	Strong transcription	Liver	Liver
32	chr1:226165400-226183000	Strong transcription	Left Ventricle	heart
33	chr1:226165400-226183400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:226165400-226183400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:226165400-226183800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:226165600-226184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:226165800-226170000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:226166000-226178600	Weak transcription	Fetal Brain Male	brain
39	chr1:226166200-226170200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:226166200-226173600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:226166200-226174800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:226166400-226176200	Strong transcription	Fetal Lung	lung
43	chr1:226166600-226171200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:226166600-226175600	Weak transcription	Colonic Mucosa	Colon
45	chr1:226167000-226170400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:226167000-226171800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:226167000-226177400	Weak transcription	Pancreas	Pancrea
48	chr1:226167000-226179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:226167000-226185000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:226167200-226170000	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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