Variant report

Variant	rs73253915
Chromosome Location	chr8:67565629-67565630
allele	A/G
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	RUNX3	chr8:67565605-67565995	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000201365	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10504393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986831	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987254	1.00[EUR][1000 genomes]
rs11987271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11987311	1.00[EUR][1000 genomes]
rs11988213	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990322	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.85[EUR][1000 genomes]
rs11992252	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993354	1.00[EUR][1000 genomes]
rs11994827	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995253	0.81[EUR][1000 genomes]
rs11995291	0.85[EUR][1000 genomes]
rs11997554	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998194	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114868	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932983	0.85[EUR][1000 genomes]
rs16932985	0.85[EUR][1000 genomes]
rs16932996	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933026	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933032	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357998	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358000	0.85[EUR][1000 genomes]
rs28432871	0.85[EUR][1000 genomes]
rs28572179	0.85[EUR][1000 genomes]
rs28589429	0.85[EUR][1000 genomes]
rs34301114	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353562	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824258	0.96[EUR][1000 genomes]
rs4345540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682762	1.00[EUR][1000 genomes]
rs56742359	0.85[EUR][1000 genomes]
rs56810217	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56911449	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57125106	0.96[EUR][1000 genomes]
rs57351080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57858031	1.00[EUR][1000 genomes]
rs58454063	0.85[EUR][1000 genomes]
rs58806068	0.85[EUR][1000 genomes]
rs59058682	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	1.00[EUR][1000 genomes]
rs59410806	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59643912	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60165103	0.81[EUR][1000 genomes]
rs60655524	0.80[EUR][1000 genomes]
rs60784079	1.00[EUR][1000 genomes]
rs61469007	0.85[EUR][1000 genomes]
rs61589642	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	1.00[EUR][1000 genomes]
rs6982407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986439	1.00[EUR][1000 genomes]
rs6986940	1.00[EUR][1000 genomes]
rs6988670	0.85[EUR][1000 genomes]
rs6991992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008740	0.85[EUR][1000 genomes]
rs73248113	0.85[EUR][1000 genomes]
rs73248122	0.85[EUR][1000 genomes]
rs73248134	0.85[EUR][1000 genomes]
rs73248138	0.85[EUR][1000 genomes]
rs73250233	1.00[EUR][1000 genomes]
rs73250238	1.00[EUR][1000 genomes]
rs73250241	1.00[EUR][1000 genomes]
rs73250244	1.00[EUR][1000 genomes]
rs73250249	1.00[EUR][1000 genomes]
rs73250250	1.00[EUR][1000 genomes]
rs73250252	1.00[EUR][1000 genomes]
rs73250262	1.00[EUR][1000 genomes]
rs73251887	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253944	0.80[AFR][1000 genomes]
rs73253964	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73253968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261704	0.85[EUR][1000 genomes]
rs73261763	0.85[EUR][1000 genomes]
rs73261767	0.85[EUR][1000 genomes]
rs7828492	0.85[EUR][1000 genomes]
rs7830436	0.85[EUR][1000 genomes]
rs7840192	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844944	0.85[EUR][1000 genomes]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67539400-67574000	Weak transcription	Spleen	Spleen
2	chr8:67545200-67575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:67545400-67575000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:67545600-67567000	Weak transcription	Small Intestine	intestine
5	chr8:67545600-67574400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:67546200-67576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:67547200-67574200	Weak transcription	Fetal Brain Male	brain
8	chr8:67547400-67574400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:67547400-67574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:67547400-67574600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:67547600-67566200	Weak transcription	Gastric	stomach
12	chr8:67547600-67566200	Weak transcription	Ovary	ovary
13	chr8:67547600-67572200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:67547600-67572400	Weak transcription	Aorta	Aorta
15	chr8:67547600-67573200	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:67547600-67574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:67547600-67575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:67547600-67576600	Weak transcription	Esophagus	oesophagus
19	chr8:67547800-67574200	Weak transcription	Hela-S3	cervix
20	chr8:67548000-67576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:67551800-67568000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:67552200-67567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:67553800-67566400	Weak transcription	Pancreas	Pancrea
24	chr8:67553800-67566800	Weak transcription	Primary T cells from cord blood	blood
25	chr8:67553800-67574000	Weak transcription	Brain Germinal Matrix	brain
26	chr8:67555800-67567000	Weak transcription	Psoas Muscle	Psoas
27	chr8:67556000-67566800	Weak transcription	Brain Angular Gyrus	brain
28	chr8:67556400-67574000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:67556600-67574200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:67556800-67574200	Weak transcription	Brain Substantia Nigra	brain
31	chr8:67558800-67575800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:67561800-67575000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:67562000-67566400	Weak transcription	Left Ventricle	heart
34	chr8:67562200-67574400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:67562600-67574400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:67563000-67565800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:67563000-67567000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:67563000-67571400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:67563000-67572400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:67563000-67572800	Weak transcription	Fetal Brain Female	brain
41	chr8:67563000-67573400	Weak transcription	Brain Anterior Caudate	brain
42	chr8:67563000-67574200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:67563000-67574200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:67563000-67574200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:67563000-67574400	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:67563000-67574400	Weak transcription	A549	lung
47	chr8:67563000-67574600	Weak transcription	Fetal Kidney	kidney
48	chr8:67563000-67575400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:67563200-67574400	Weak transcription	Osteobl	bone
50	chr8:67563200-67574600	Weak transcription	NHLF	lung

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