Variant report

Variant	rs1640804
Chromosome Location	chr1:223326886-223326887
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	chr1:223316496..223318178-chr1:223325996..223328231,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000236846	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1612431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1613248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640805	1.00[AFR][1000 genomes]
rs1640806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640862	1.00[AMR][1000 genomes]
rs1773735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744096	1.00[AMR][1000 genomes]
rs5744098	1.00[AMR][1000 genomes]
rs725083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851159	1.00[AMR][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	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	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223323200-223327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:223324800-223327400	Enhancers	Stomach Mucosa	stomach
3	chr1:223325000-223327000	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:223325000-223327600	Enhancers	K562	blood
5	chr1:223325600-223329000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:223326000-223327400	Enhancers	Gastric	stomach
7	chr1:223326200-223327400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:223326200-223327600	Enhancers	Adipose Nuclei	Adipose
9	chr1:223326400-223327400	Enhancers	NH-A	brain
10	chr1:223326400-223327600	Enhancers	Right Atrium	heart
11	chr1:223326400-223327600	Enhancers	HUVEC	blood vessel
12	chr1:223326600-223327200	Enhancers	Fetal Thymus	thymus
13	chr1:223326600-223327400	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:223326600-223327400	Enhancers	Dnd41	blood
15	chr1:223326600-223327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:223326600-223327800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:223326800-223327000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:223326800-223327000	Enhancers	Thymus	Thymus
19	chr1:223326800-223327200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:223326800-223327200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:223326800-223327200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:223326800-223327400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:223326800-223327400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:223326800-223327400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:223326800-223327400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:223326800-223327400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:223326800-223327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:223326800-223327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:223326800-223327800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:223326800-223327800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:223326800-223329200	Enhancers	Placenta	Placenta

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