Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223306512..223308527-chr1:223393691..223395238,2	K562	blood:
2	chr1:223390971..223394178-chr1:223394511..223397786,3	K562	blood:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11485987	1.00[MEX][hapmap]
rs1640803	1.00[CEU][hapmap]
rs1640806	1.00[MEX][hapmap]
rs1640862	1.00[MEX][hapmap]
rs2430407	0.93[AFR][1000 genomes]
rs5744122	1.00[CEU][hapmap]
rs5744134	1.00[MEX][hapmap]
rs5744135	1.00[MEX][hapmap]
rs5744138	1.00[MEX][hapmap]
rs5744139	1.00[MEX][hapmap]
rs5744140	1.00[MEX][hapmap]
rs5744143	1.00[MEX][hapmap]
rs5744149	1.00[MEX][hapmap]
rs712862	1.00[CEU][hapmap]
rs851140	1.00[CEU][hapmap]
rs851147	1.00[CEU][hapmap]
rs851148	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs851151	1.00[CEU][hapmap]
rs851152	1.00[CEU][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs851154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851158	1.00[AMR][1000 genomes]
rs851159	1.00[MEX][hapmap];0.81[AFR][1000 genomes]
rs860372	1.00[CEU][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	chr1:223393200-223394000	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr1:223393200-223407800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:223393400-223394800	Enhancers	Primary T cells from cord blood	blood
13	chr1:223393400-223397000	Strong transcription	Ovary	ovary
14	chr1:223393400-223402000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:223393800-223394000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:223393800-223394000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:223393800-223394000	Enhancers	Esophagus	oesophagus

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