Variant report

Variant	rs74090716
Chromosome Location	chr1:76191124-76191125
allele	C/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	POLR2A	chr1:76189485-76191195	GM18505	blood:	n/a	n/a
2	MYC	chr1:76190245-76191801	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:76188739-76192883	GM12878	blood:	n/a	n/a
4	ZNF384	chr1:76189840-76192669	K562	blood:	n/a	chr1:76191781-76191789
5	POLR2A	chr1:76189346-76191616	MCF10A-Er-Src	breast:	n/a	n/a
6	IRF1	chr1:76189245-76193364	K562	blood:	n/a	chr1:76189864-76189877 chr1:76190686-76190700 chr1:76190686-76190696 chr1:76192789-76192803 chr1:76190682-76190696 chr1:76192789-76192800 chr1:76190680-76190697 chr1:76190381-76190395 chr1:76189864-76189878 chr1:76189864-76189876 chr1:76190001-76190015 chr1:76190685-76190696 chr1:76192789-76192802 chr1:76190176-76190187 chr1:76193209-76193221 chr1:76192989-76193000 chr1:76192790-76192800 chr1:76189863-76189874 chr1:76189864-76189877 chr1:76191327-76191339 chr1:76192789-76192802 chr1:76192790-76192804 chr1:76192989-76193003 chr1:76190684-76190704 chr1:76192789-76192802 chr1:76189859-76189876
7	CEBPB	chr1:76190999-76191836	Hela-S3	cervix:	n/a	chr1:76191248-76191261
8	MYC	chr1:76189742-76191205	MCF10A-Er-Src	breast:	n/a	chr1:76190102-76190112
9	MAFK	chr1:76191087-76191814	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:76188877-76191606	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:76188418-76192901	GM12891	blood:	n/a	n/a
12	IRF1	chr1:76189162-76192393	K562	blood:	n/a	chr1:76189864-76189877 chr1:76190686-76190700 chr1:76190686-76190696 chr1:76190682-76190696 chr1:76190680-76190697 chr1:76190381-76190395 chr1:76189864-76189878 chr1:76189864-76189876 chr1:76190001-76190015 chr1:76190685-76190696 chr1:76190176-76190187 chr1:76189863-76189874 chr1:76189864-76189877 chr1:76191327-76191339 chr1:76190684-76190704 chr1:76189859-76189876
13	MAFF	chr1:76190893-76191155	K562	blood:	n/a	n/a
14	E2F4	chr1:76189649-76191360	MCF10A-Er-Src	breast:	n/a	chr1:76190281-76190291 chr1:76190084-76190093 chr1:76190280-76190290
15	MAZ	chr1:76189505-76191327	IMR90	lung:	n/a	chr1:76190102-76190112
16	SIN3A	chr1:76189654-76191314	GM12878	blood:	n/a	chr1:76190830-76190844
17	MXI1	chr1:76189073-76192452	SK-N-SH	brain:	n/a	n/a
18	CHD1	chr1:76190098-76192501	GM12878	blood:	n/a	n/a
19	MXI1	chr1:76191101-76191958	GM12878	blood:	n/a	n/a
20	MYC	chr1:76188943-76191174	K562	blood:	n/a	chr1:76190102-76190112
21	UBTF	chr1:76189276-76192340	K562	blood:	n/a	n/a
22	MXI1	chr1:76189277-76191416	IMR90	lung:	n/a	n/a
23	CEBPB	chr1:76191020-76191689	K562	blood:	n/a	chr1:76191248-76191261
24	POLR2A	chr1:76188052-76192437	K562	blood:	n/a	n/a
25	TBL1XR1	chr1:76189684-76191846	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
2	chr1:76188658..76192178-chr1:76249968..76253902,5	MCF-7	breast:
3	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
4	chr1:76190900..76193069-chr1:76204976..76207416,2	K562	blood:
5	chr1:76190185..76192141-chr1:76251658..76253401,2	MCF-7	breast:
6	chr1:76190052..76193339-chr1:76196508..76198872,3	K562	blood:
7	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
8	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:
9	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
10	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:

Variant related genes	Relation type
ENSG00000178193	TF binding region
ENSG00000117054	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000057468	Chromatin interaction
ENSG00000181227	Chromatin interaction
ENSG00000207241	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]
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]
rs74090726	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76189000-76191200	Active TSS	Brain Hippocampus Middle	brain
2	chr1:76189000-76191400	Active TSS	A549	lung
3	chr1:76189000-76191600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76189000-76191600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr1:76189200-76191400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:76189200-76191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:76189200-76191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:76189200-76191600	Active TSS	Brain Anterior Caudate	brain
9	chr1:76189200-76191800	Active TSS	Esophagus	oesophagus
10	chr1:76189200-76191800	Active TSS	HSMM	muscle
11	chr1:76189200-76192000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:76189200-76192400	Active TSS	HMEC	breast
13	chr1:76189200-76192400	Active TSS	NHDF-Ad	bronchial
14	chr1:76189400-76191200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:76189400-76191200	Active TSS	Fetal Heart	heart
16	chr1:76189400-76191200	Active TSS	Fetal Kidney	kidney
17	chr1:76189400-76191400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:76189400-76191400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:76189400-76191400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:76189400-76191400	Active TSS	Aorta	Aorta
21	chr1:76189400-76191400	Active TSS	Fetal Muscle Trunk	muscle
22	chr1:76189400-76191400	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:76189400-76191600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:76189400-76191600	Active TSS	Fetal Muscle Leg	muscle
25	chr1:76189400-76191600	Active TSS	Fetal Thymus	thymus
26	chr1:76189400-76191600	Active TSS	HSMMtube	muscle
27	chr1:76189400-76191600	Active TSS	Osteobl	bone
28	chr1:76189400-76191800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:76189400-76191800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:76189400-76191800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:76189400-76191800	Active TSS	Fetal Stomach	stomach
32	chr1:76189400-76191800	Active TSS	Psoas Muscle	Psoas
33	chr1:76189400-76191800	Active TSS	Right Ventricle	heart
34	chr1:76189400-76192000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:76189400-76192000	Active TSS	HepG2	liver
36	chr1:76189400-76192000	Active TSS	NHLF	lung
37	chr1:76189400-76192200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:76189400-76192200	Active TSS	Ovary	ovary
39	chr1:76189400-76192400	Active TSS	Colonic Mucosa	Colon
40	chr1:76189600-76191200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:76189600-76191200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:76189600-76191200	Active TSS	Brain Substantia Nigra	brain
43	chr1:76189600-76191200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr1:76189600-76191200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr1:76189600-76191200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:76189600-76191200	Active TSS	NHEK	skin
47	chr1:76189600-76191400	Active TSS	Fetal Lung	lung
48	chr1:76189600-76191400	Active TSS	Stomach Mucosa	stomach
49	chr1:76189600-76191600	Active TSS	Placenta	Placenta
50	chr1:76189600-76191800	Active TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links