Variant report

Variant	rs3768284
Chromosome Location	chr1:223394228-223394229
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	chr1:223306512..223308527-chr1:223393691..223395238,2	K562	blood:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11485986	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11485987	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs11488545	1.00[EUR][1000 genomes]
rs11488546	1.00[EUR][1000 genomes]
rs11488550	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1416691	1.00[EUR][1000 genomes]
rs1417744	1.00[MEX][hapmap]
rs1612521	0.95[ASN][1000 genomes]
rs1640803	0.95[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs1640811	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs1640812	0.86[JPT][hapmap]
rs1640813	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs1640816	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs1773719	0.95[ASN][1000 genomes]
rs1773722	0.95[ASN][1000 genomes]
rs1773723	0.95[ASN][1000 genomes]
rs1935305	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs2160152	0.93[ASN][1000 genomes]
rs2192616	1.00[EUR][1000 genomes]
rs2253649	1.00[MEX][hapmap]
rs2430407	1.00[ASN][1000 genomes]
rs2430408	1.00[ASN][1000 genomes]
rs2430410	0.95[ASN][1000 genomes]
rs3121256	0.95[ASN][1000 genomes]
rs35797130	0.95[ASN][1000 genomes]
rs4661283	0.95[ASN][1000 genomes]
rs4661284	0.95[ASN][1000 genomes]
rs5744102	1.00[EUR][1000 genomes]
rs5744122	1.00[MEX][hapmap]
rs5744135	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744138	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744139	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744140	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744143	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744149	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744151	1.00[TSI][hapmap]
rs5744153	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs5744167	1.00[MEX][hapmap]
rs6675057	1.00[EUR][1000 genomes]
rs712862	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs712863	0.95[ASN][1000 genomes]
rs712865	0.95[ASN][1000 genomes]
rs725972	0.95[ASN][1000 genomes]
rs73120253	0.93[ASN][1000 genomes]
rs73120267	0.95[ASN][1000 genomes]
rs73120269	0.95[ASN][1000 genomes]
rs825126	1.00[MEX][hapmap]
rs851140	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap]
rs851144	1.00[ASN][1000 genomes]
rs851146	1.00[ASN][1000 genomes]
rs851151	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs851160	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851163	0.95[ASN][1000 genomes]
rs851195	1.00[MEX][hapmap]
rs851197	1.00[MEX][hapmap]
rs851200	1.00[MEX][hapmap]
rs851211	1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs851215	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs860372	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs988241	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs988242	0.95[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223390200-223394600	Weak transcription	Fetal Brain Male	brain
2	chr1:223390400-223402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:223390400-223406400	Weak transcription	Gastric	stomach
4	chr1:223390800-223395000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:223392600-223394800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:223392800-223396400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:223392800-223397200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:223393000-223395000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:223393000-223395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:223393200-223407800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:223393400-223394800	Enhancers	Primary T cells from cord blood	blood
12	chr1:223393400-223397000	Strong transcription	Ovary	ovary
13	chr1:223393400-223402000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:223394000-223395000	Weak transcription	Esophagus	oesophagus
15	chr1:223394000-223396200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:223394000-223398200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:223394000-223400800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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