Variant report

Variant	rs59221245
Chromosome Location	chr7:50626112-50626113
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50625823..50628004-chr7:50631003..50633702,2	K562	blood:
2	chr7:50625436..50627457-chr7:50643503..50646245,2	K562	blood:

Variant related genes	Relation type
ENSG00000132437	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10228056	0.86[EUR][1000 genomes]
rs11575351	0.86[EUR][1000 genomes]
rs11763051	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11771860	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1304692	0.86[EUR][1000 genomes]
rs17133881	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122819	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2167363	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4245549	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4455783	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947621	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947625	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4947631	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57716050	0.86[EUR][1000 genomes]
rs58537381	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61042486	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73342836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342839	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:50611000-50631800	Weak transcription	Colonic Mucosa	Colon
3	chr7:50619400-50628200	Enhancers	HepG2	liver
4	chr7:50619600-50627800	Enhancers	Fetal Intestine Large	intestine
5	chr7:50620800-50635600	Weak transcription	Lung	lung
6	chr7:50621800-50627000	Enhancers	Pancreas	Pancrea
7	chr7:50623000-50626400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:50623800-50626800	Enhancers	Ovary	ovary
9	chr7:50624400-50626400	Enhancers	Fetal Intestine Small	intestine
10	chr7:50624600-50631800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:50624800-50626200	Weak transcription	Liver	Liver
12	chr7:50625000-50626600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:50625000-50628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:50625000-50628600	Weak transcription	Small Intestine	intestine
15	chr7:50625200-50628400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:50625400-50626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:50625400-50628400	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:50625600-50626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:50625600-50628400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:50625600-50628600	Weak transcription	Brain Germinal Matrix	brain
21	chr7:50625800-50626800	Enhancers	K562	blood
22	chr7:50625800-50627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:50626000-50626600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:50626000-50626600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:50626000-50626800	Enhancers	Stomach Mucosa	stomach
26	chr7:50626000-50628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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