Variant report

Variant	rs68189831
Chromosome Location	chr7:116791102-116791103
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	POLR2A	chr7:116790821-116791123	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:58853702..58856613-chr7:116789873..116792552,2	MCF-7	breast:
2	chr7:116767619..116769310-chr7:116790602..116792846,2	K562	blood:

Variant related genes	Relation type
ST7-AS2	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224047	0.99[ASN][1000 genomes]
rs10224800	0.95[ASN][1000 genomes]
rs10228205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235357	0.99[ASN][1000 genomes]
rs10253112	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10260273	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260934	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10262380	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10269684	0.99[ASN][1000 genomes]
rs10270156	0.99[ASN][1000 genomes]
rs10270160	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10278192	0.99[ASN][1000 genomes]
rs10280789	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10487358	0.99[ASN][1000 genomes]
rs12333554	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12333994	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12666031	0.90[EUR][1000 genomes]
rs12670227	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12671521	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153015	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153016	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17139387	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17139390	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs171552	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171553	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs173496	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs185187	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs192238	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193555	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193556	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193557	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193559	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193560	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193561	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193562	0.89[ASN][1000 genomes]
rs193563	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193564	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193565	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193566	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193567	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193568	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193569	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193570	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2188692	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2214167	0.98[ASN][1000 genomes]
rs2402154	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402155	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402156	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402157	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402158	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402159	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28481622	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28626669	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808215	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824031	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38861	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38862	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38863	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38864	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38865	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38866	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38867	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38868	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38869	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38870	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38871	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38872	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38873	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38874	0.90[ASN][1000 genomes]
rs38875	0.90[ASN][1000 genomes]
rs38876	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38877	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38878	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38879	0.90[ASN][1000 genomes]
rs38880	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38881	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38882	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38883	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38884	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38885	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38886	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38887	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38888	0.90[ASN][1000 genomes]
rs38889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs467	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57238791	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57518803	0.99[ASN][1000 genomes]
rs57609520	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57778199	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60653618	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66535855	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66668879	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67039230	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67452319	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6966117	0.93[ASN][1000 genomes]
rs6976661	0.89[ASN][1000 genomes]
rs73211912	1.00[EUR][1000 genomes]
rs739556	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9784960	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9785047	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
2	chr7:116765000-116792400	Weak transcription	Fetal Kidney	kidney
3	chr7:116765000-116797200	Weak transcription	Pancreas	Pancrea
4	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:116767000-116797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:116767200-116797200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:116767600-116797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:116773000-116791600	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:116773600-116797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:116775200-116791800	Weak transcription	Small Intestine	intestine
12	chr7:116775800-116798000	Weak transcription	Hela-S3	cervix
13	chr7:116776200-116797000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:116776200-116797200	Weak transcription	Gastric	stomach
15	chr7:116776400-116797200	Weak transcription	NHLF	lung
16	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:116776600-116792400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:116776600-116792600	Weak transcription	Brain Angular Gyrus	brain
19	chr7:116776600-116797000	Weak transcription	HSMM	muscle
20	chr7:116776600-116797400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:116778800-116791400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:116778800-116791800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:116778800-116794200	Weak transcription	Right Ventricle	heart
24	chr7:116779200-116797400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:116779600-116811200	Weak transcription	Fetal Brain Female	brain
26	chr7:116779800-116797000	Weak transcription	Brain Germinal Matrix	brain
27	chr7:116781200-116797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:116781400-116792400	Weak transcription	Liver	Liver
29	chr7:116782400-116792600	Weak transcription	HSMMtube	muscle
30	chr7:116782600-116795000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:116783200-116794400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:116783400-116791800	Weak transcription	Left Ventricle	heart
33	chr7:116783400-116792400	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:116783400-116794200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:116783400-116797200	Weak transcription	Lung	lung
36	chr7:116783400-116811000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:116783600-116793000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:116783800-116792400	Weak transcription	Fetal Lung	lung
39	chr7:116783800-116794400	Weak transcription	Placenta	Placenta
40	chr7:116783800-116796600	Weak transcription	Osteobl	bone
41	chr7:116783800-116797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:116783800-116797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:116783800-116797200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:116783800-116797200	Weak transcription	NH-A	brain
45	chr7:116784000-116791400	Weak transcription	Fetal Heart	heart
46	chr7:116784000-116797600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:116784400-116797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:116785800-116797200	Weak transcription	HUVEC	blood vessel
50	chr7:116786800-116794200	Weak transcription	Placenta Amnion	Placenta Amnion

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