Variant report

Variant	rs74090726
Chromosome Location	chr1:76199277-76199278
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76195849..76201919-chr1:76251987..76255873,8	K562	blood:
2	chr1:76198750..76201093-chr1:76210401..76212796,3	K562	blood:
3	chr1:76197028..76199654-chr1:76253368..76256114,2	K562	blood:
4	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
5	chr1:76196771..76202637-chr1:76258126..76262356,7	K562	blood:
6	chr1:76197560..76200556-chr1:76208948..76211290,2	K562	blood:

Variant related genes	Relation type
ENSG00000206620	Chromatin interaction
ENSG00000181227	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000178193	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10465725	1.00[EUR][1000 genomes]
rs11161872	0.82[EUR][1000 genomes]
rs1144329	0.92[EUR][1000 genomes]
rs1146603	0.92[EUR][1000 genomes]
rs1146605	0.92[EUR][1000 genomes]
rs1146606	0.92[EUR][1000 genomes]
rs1146608	0.92[EUR][1000 genomes]
rs1146611	0.92[EUR][1000 genomes]
rs1146612	0.92[EUR][1000 genomes]
rs1146614	0.92[EUR][1000 genomes]
rs1146615	0.92[EUR][1000 genomes]
rs1146618	0.92[EUR][1000 genomes]
rs1146619	0.92[EUR][1000 genomes]
rs1146620	0.92[EUR][1000 genomes]
rs1146622	0.92[EUR][1000 genomes]
rs1146624	0.92[EUR][1000 genomes]
rs1146628	0.92[EUR][1000 genomes]
rs1146629	0.92[EUR][1000 genomes]
rs1146641	0.92[EUR][1000 genomes]
rs12074938	1.00[EUR][1000 genomes]
rs12079065	1.00[EUR][1000 genomes]
rs12079211	1.00[EUR][1000 genomes]
rs12079950	0.82[EUR][1000 genomes]
rs12081631	1.00[EUR][1000 genomes]
rs12093817	0.92[EUR][1000 genomes]
rs12094698	0.92[EUR][1000 genomes]
rs13376397	1.00[EUR][1000 genomes]
rs17097567	1.00[EUR][1000 genomes]
rs17097707	0.82[EUR][1000 genomes]
rs17097710	1.00[EUR][1000 genomes]
rs55781251	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55977041	1.00[EUR][1000 genomes]
rs56036152	0.80[AMR][1000 genomes]
rs56069207	0.80[AMR][1000 genomes]
rs56322662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364153	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57443433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5745309	1.00[EUR][1000 genomes]
rs5745418	1.00[EUR][1000 genomes]
rs57798497	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58125729	1.00[EUR][1000 genomes]
rs59723961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59932454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219146	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60630670	0.80[AMR][1000 genomes]
rs60871503	0.80[AMR][1000 genomes]
rs61124994	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61612438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088936	0.80[AMR][1000 genomes]
rs74088996	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74088997	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74088999	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090705	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090737	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512465	1.00[EUR][1000 genomes]
rs7544911	0.84[EUR][1000 genomes]
rs815310	0.82[EUR][1000 genomes]
rs815311	0.82[EUR][1000 genomes]
rs9970840	1.00[EUR][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76190800-76199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:76190800-76207200	Weak transcription	Spleen	Spleen
3	chr1:76190800-76208000	Weak transcription	Gastric	stomach
4	chr1:76191200-76219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:76191400-76199400	Weak transcription	Aorta	Aorta
6	chr1:76191800-76208000	Weak transcription	A549	lung
7	chr1:76191800-76208200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:76191800-76209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:76192000-76199400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:76192000-76199400	Weak transcription	Lung	lung
11	chr1:76192000-76208000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:76192000-76210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:76192000-76220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:76192000-76220600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:76192200-76200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:76192200-76200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:76192200-76200400	Weak transcription	Placenta	Placenta
19	chr1:76192200-76204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:76192200-76217800	Weak transcription	Fetal Brain Male	brain
21	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:76192400-76199400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:76192400-76199400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:76192400-76199400	Weak transcription	Thymus	Thymus
25	chr1:76192400-76199600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:76192400-76200200	Weak transcription	HMEC	breast
27	chr1:76192400-76200200	Weak transcription	HUVEC	blood vessel
28	chr1:76192400-76200600	Weak transcription	Brain Angular Gyrus	brain
29	chr1:76192400-76200600	Weak transcription	Fetal Kidney	kidney
30	chr1:76192400-76200600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:76192400-76201200	Weak transcription	Stomach Mucosa	stomach
32	chr1:76192400-76207600	Weak transcription	Colonic Mucosa	Colon
33	chr1:76192600-76199400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:76193000-76199600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:76193600-76220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:76193800-76199400	Weak transcription	Fetal Brain Female	brain
37	chr1:76193800-76200400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:76193800-76200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:76193800-76200600	Weak transcription	Esophagus	oesophagus
40	chr1:76193800-76200600	Weak transcription	Pancreas	Pancrea
41	chr1:76193800-76207800	Weak transcription	Right Ventricle	heart
42	chr1:76193800-76208000	Weak transcription	Hela-S3	cervix
43	chr1:76193800-76208600	Weak transcription	Small Intestine	intestine
44	chr1:76193800-76220200	Weak transcription	Fetal Heart	heart
45	chr1:76194000-76200400	Weak transcription	Brain Germinal Matrix	brain
46	chr1:76194000-76208000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:76195600-76219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:76195800-76201200	Strong transcription	Primary B cells from cord blood	blood
49	chr1:76195800-76213800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:76196000-76210800	Strong transcription	Primary B cells from peripheral blood	blood

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