Variant report

Variant	rs73125225
Chromosome Location	chr7:50626109-50626110
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	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: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1037350	0.82[ASN][1000 genomes]
rs10486757	1.00[AFR][1000 genomes]
rs10499691	0.82[ASN][1000 genomes]
rs1107742	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1107743	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11575282	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575286	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575313	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575321	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575322	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575338	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575349	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575410	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11575442	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11575500	1.00[AFR][1000 genomes]
rs11575521	0.88[ASN][1000 genomes]
rs11575548	0.84[ASN][1000 genomes]
rs11575553	0.82[ASN][1000 genomes]
rs11575562	0.82[ASN][1000 genomes]
rs11976368	0.82[ASN][1000 genomes]
rs11978591	0.82[ASN][1000 genomes]
rs1349491	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1470748	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17133817	0.82[ASN][1000 genomes]
rs17133826	0.82[ASN][1000 genomes]
rs17544225	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17553036	0.82[ASN][1000 genomes]
rs17634476	0.82[ASN][1000 genomes]
rs17634717	0.84[ASN][1000 genomes]
rs17634958	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17635123	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2100279	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2122817	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2190499	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2190500	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2237439	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2242041	0.82[ASN][1000 genomes]
rs2299151	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2299152	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2329367	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2329369	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2876826	0.83[ASN][1000 genomes]
rs2876830	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735271	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3779081	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3807550	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3807551	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3807553	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4469405	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4585697	0.83[EUR][1000 genomes]
rs4602840	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4947710	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55834323	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56056130	0.82[ASN][1000 genomes]
rs56670620	0.83[EUR][1000 genomes]
rs58129743	0.83[EUR][1000 genomes]
rs67275148	0.83[EUR][1000 genomes]
rs6959427	0.82[ASN][1000 genomes]
rs71018475	0.81[ASN][1000 genomes]
rs73117270	0.88[ASN][1000 genomes]
rs73119230	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73119239	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73119245	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73119251	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73121271	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73121282	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73121285	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73121287	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73121290	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73121292	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73123220	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123247	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123249	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123251	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123254	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123257	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123261	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123264	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123266	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123283	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123285	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123291	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73125208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129082	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73129084	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73129088	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73129091	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73129096	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73131006	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73131008	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73131013	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73131015	1.00[AFR][1000 genomes]
rs73131078	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73695642	0.82[ASN][1000 genomes]
rs73695660	0.82[ASN][1000 genomes]
rs73695663	0.82[ASN][1000 genomes]
rs7777600	0.87[ASN][1000 genomes]
rs896308	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9656664	0.86[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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