Variant report

Variant	rs73123249
Chromosome Location	chr7:50598463-50598464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:50598313-50601096	SK-N-SH	brain:	n/a	n/a
2	EP300	chr7:50597088-50601096	SK-N-SH	brain:	n/a	chr7:50599946-50599960 chr7:50597383-50597399

Variant related genes	Relation type
ENSG00000226122	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1037350	0.87[ASN][1000 genomes]
rs10499691	0.87[ASN][1000 genomes]
rs1107742	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107743	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575282	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575286	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575321	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575410	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575442	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575521	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11575548	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11575553	0.87[ASN][1000 genomes]
rs11575562	0.87[ASN][1000 genomes]
rs11976368	0.87[ASN][1000 genomes]
rs11978591	0.87[ASN][1000 genomes]
rs1349491	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1470748	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17133817	0.87[ASN][1000 genomes]
rs17133826	0.87[ASN][1000 genomes]
rs17553036	0.87[ASN][1000 genomes]
rs17634476	0.87[ASN][1000 genomes]
rs17634717	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17634958	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17635123	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100279	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122817	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242041	0.87[ASN][1000 genomes]
rs2329367	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329369	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2876826	0.87[ASN][1000 genomes]
rs2876830	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735271	0.82[EUR][1000 genomes]
rs3779081	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807550	0.82[EUR][1000 genomes]
rs3807551	0.82[EUR][1000 genomes]
rs3807553	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469405	0.82[EUR][1000 genomes]
rs4585697	0.85[EUR][1000 genomes]
rs4602840	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947710	0.82[EUR][1000 genomes]
rs55834323	0.82[EUR][1000 genomes]
rs56056130	0.87[ASN][1000 genomes]
rs56670620	0.85[EUR][1000 genomes]
rs58129743	0.85[EUR][1000 genomes]
rs67275148	0.85[EUR][1000 genomes]
rs6959427	0.82[ASN][1000 genomes]
rs71018475	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73117270	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73119230	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119239	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119245	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119251	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121282	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121285	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121287	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121290	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123220	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123251	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123264	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123266	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123283	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123285	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123291	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73125208	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125215	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125225	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73129082	0.82[EUR][1000 genomes]
rs73129084	0.82[EUR][1000 genomes]
rs73129088	0.82[EUR][1000 genomes]
rs73129091	0.82[EUR][1000 genomes]
rs73129096	0.82[EUR][1000 genomes]
rs73131006	0.82[EUR][1000 genomes]
rs73131008	0.82[EUR][1000 genomes]
rs73131013	0.82[EUR][1000 genomes]
rs73131078	0.82[EUR][1000 genomes]
rs73695642	0.87[ASN][1000 genomes]
rs73695660	0.87[ASN][1000 genomes]
rs73695663	0.87[ASN][1000 genomes]
rs7777600	0.91[ASN][1000 genomes]
rs896308	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9656664	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50589000-50599200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:50595200-50600000	Enhancers	Pancreas	Pancrea
4	chr7:50595200-50604600	Genic enhancers	Fetal Intestine Small	intestine
5	chr7:50595800-50599400	Enhancers	Fetal Intestine Large	intestine
6	chr7:50596200-50598800	Weak transcription	Brain Germinal Matrix	brain
7	chr7:50596200-50599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:50596200-50599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:50596200-50599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:50596400-50599000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:50596800-50598600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:50596800-50599000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:50597000-50598800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:50597000-50599000	Weak transcription	Gastric	stomach
15	chr7:50597000-50601200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:50597000-50601400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:50597200-50603600	Weak transcription	Liver	Liver
18	chr7:50597400-50598800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:50597400-50599000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:50597400-50599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:50597400-50600000	Enhancers	Placenta	Placenta
22	chr7:50597400-50601400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:50597800-50601400	Weak transcription	HepG2	liver
24	chr7:50597800-50602400	Weak transcription	Stomach Mucosa	stomach
25	chr7:50598200-50598800	Enhancers	NHEK	skin
26	chr7:50598200-50599200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:50598200-50599400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:50598200-50600400	Enhancers	HMEC	breast
29	chr7:50598400-50600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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