Variant report

Variant	rs2816326
Chromosome Location	chr1:226169966-226169967
allele	C/T
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	chr1:225995447..225998114-chr1:226169770..226172541,2	K562	blood:
5	chr1:226169480..226172418-chr1:226176613..226179473,2	MCF-7	breast:
6	chr1:225813188..225814940-chr1:226168399..226170379,2	K562	blood:
7	chr1:226168356..226170582-chr1:226171716..226173741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11586667	0.82[TSI][hapmap]
rs11590226	0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs11808474	0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs11809941	0.81[EUR][1000 genomes]
rs12735124	0.91[JPT][hapmap]
rs16845468	0.84[MEX][hapmap];0.81[EUR][1000 genomes]
rs16845499	0.82[JPT][hapmap]
rs16845535	0.82[JPT][hapmap]
rs1885254	0.84[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs1998273	0.88[CEU][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2755092	0.83[EUR][1000 genomes]
rs2755094	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs2755095	0.88[GIH][hapmap]
rs2755097	0.92[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2755100	0.84[EUR][1000 genomes]
rs2816323	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816324	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816328	0.83[EUR][1000 genomes]
rs3748813	0.91[JPT][hapmap]
rs66514719	0.81[EUR][1000 genomes]
rs66791434	0.81[EUR][1000 genomes]
rs66934363	0.81[EUR][1000 genomes]
rs67269884	0.81[EUR][1000 genomes]
rs73100535	0.81[EUR][1000 genomes]
rs7554619	0.81[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	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	chr1:226164600-226182800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:226164600-226183000	Strong transcription	Placenta	Placenta
16	chr1:226165000-226170200	Strong transcription	Lung	lung
17	chr1:226165000-226178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:226165000-226183600	Strong transcription	Adipose Nuclei	Adipose
19	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:226165200-226171600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:226165200-226174600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:226165200-226183200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:226165200-226183400	Strong transcription	Osteobl	bone
24	chr1:226165400-226176800	Strong transcription	HSMM	muscle
25	chr1:226165400-226182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:226165400-226183000	Strong transcription	Liver	Liver
27	chr1:226165400-226183000	Strong transcription	Left Ventricle	heart
28	chr1:226165400-226183400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:226165400-226183400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:226165400-226183800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:226165600-226184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:226165800-226170000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:226166000-226178600	Weak transcription	Fetal Brain Male	brain
34	chr1:226166200-226170200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:226166200-226173600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:226166200-226174800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:226166400-226176200	Strong transcription	Fetal Lung	lung
38	chr1:226166600-226171200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:226166600-226175600	Weak transcription	Colonic Mucosa	Colon
40	chr1:226167000-226170400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:226167000-226171800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:226167000-226177400	Weak transcription	Pancreas	Pancrea
43	chr1:226167000-226179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:226167000-226185000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:226167200-226170000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:226167200-226170200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:226167200-226174200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:226167200-226176000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:226167200-226176000	Strong transcription	Fetal Kidney	kidney
50	chr1:226167400-226170000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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