Variant report

Variant	rs73881454
Chromosome Location	chr22:30787738-30787739
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	JUND	chr22:30787149-30787759	HepG2	liver:	n/a	chr22:30787582-30787591 chr22:30787581-30787592 chr22:30787583-30787592 chr22:30787582-30787592 chr22:30787582-30787592 chr22:30787581-30787593 chr22:30787583-30787590
2	FOS	chr22:30787204-30787769	HUVEC	blood vessel:	n/a	chr22:30787582-30787591 chr22:30787583-30787592 chr22:30787582-30787592 chr22:30787582-30787592 chr22:30787581-30787593 chr22:30787583-30787590
3	EBF1	chr22:30786853-30787877	GM12878	blood:	n/a	chr22:30787275-30787286
4	JUND	chr22:30787151-30787775	HepG2	liver:	n/a	chr22:30787582-30787591 chr22:30787581-30787592 chr22:30787583-30787592 chr22:30787582-30787592 chr22:30787582-30787592 chr22:30787581-30787593 chr22:30787583-30787590
5	PAX5	chr22:30787003-30788031	GM12878	blood:	n/a	n/a
6	EBF1	chr22:30786888-30787818	GM12878	blood:	n/a	chr22:30787275-30787286
7	FOSL2	chr22:30787269-30787830	HepG2	liver:	n/a	chr22:30787582-30787591 chr22:30787580-30787591 chr22:30787583-30787592 chr22:30787582-30787592 chr22:30787582-30787592 chr22:30787581-30787593 chr22:30787583-30787590
8	SMC3	chr22:30786805-30787865	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr22:30787068-30787801	HepG2	liver:	n/a	chr22:30787582-30787591 chr22:30787580-30787591 chr22:30787583-30787592 chr22:30787582-30787592 chr22:30787582-30787592 chr22:30787581-30787593 chr22:30787583-30787590
10	ZC3H11A	chr22:30787553-30787747	K562	blood:	n/a	n/a
11	MXI1	chr22:30786803-30787829	IMR90	lung:	n/a	n/a
12	RAD21	chr22:30786825-30787819	HCT-116	colon:	n/a	n/a
13	STAT3	chr22:30787648-30787772	MCF10A-Er-Src	breast:	n/a	chr22:30787691-30787703
14	RAD21	chr22:30786834-30787826	SK-N-SH	brain:	n/a	n/a
15	RUNX3	chr22:30787054-30787769	GM12878	blood:	n/a	n/a
16	CTCF	chr22:30786801-30787929	HCT-116	colon:	n/a	n/a
17	RUNX3	chr22:30787040-30787919	GM12878	blood:	n/a	n/a
18	WRNIP1	chr22:30787603-30787744	GM12878	blood:	n/a	n/a
19	MAZ	chr22:30786766-30788179	IMR90	lung:	n/a	chr22:30786949-30786959

No.	Distal block	Cell Line	Cell type
1	chr22:30786785..30787943-chr22:30821846..30823177,6	MCF-7	breast:
2	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
3	chr22:30787227..30787820-chr22:30826584..30827480,2	MCF-7	breast:
4	chr22:30683373..30683939-chr22:30787054..30787807,2	K562	blood:
5	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
6	chr22:30783942..30788734-chr22:30793549..30798623,5	K562	blood:
7	chr22:30786344..30789166-chr22:30790183..30793938,3	K562	blood:
8	chr22:30786734..30787783-chr22:30881073..30882029,10	K562	blood:
9	chr22:30787474..30789998-chr22:30829336..30831551,2	K562	blood:
10	chr22:30787202..30787778-chr22:30822213..30823130,2	MCF-7	breast:
11	chr22:30782998..30784853-chr22:30785948..30788103,2	MCF-7	breast:

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000222915	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000203606	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10427765	1.00[AMR][1000 genomes]
rs12158119	1.00[AMR][1000 genomes]
rs12159979	1.00[AMR][1000 genomes]
rs16988763	1.00[AMR][1000 genomes]
rs34765878	1.00[AMR][1000 genomes]
rs57907583	0.83[AFR][1000 genomes]
rs5997635	1.00[AMR][1000 genomes]
rs5997644	1.00[AMR][1000 genomes]
rs5997649	1.00[AMR][1000 genomes]
rs73394240	1.00[AMR][1000 genomes]
rs73881452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783800-30788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:30783800-30788600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:30783800-30789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:30783800-30789200	Weak transcription	Stomach Mucosa	stomach
5	chr22:30783800-30789600	Weak transcription	Lung	lung
6	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
9	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung
10	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
11	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
12	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
13	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea
14	chr22:30783800-30792600	Weak transcription	Right Atrium	heart
15	chr22:30783800-30793000	Weak transcription	Gastric	stomach
16	chr22:30785000-30789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:30786600-30787800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:30786600-30789000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr22:30786800-30789600	Enhancers	Primary B cells from peripheral blood	blood
20	chr22:30787000-30787800	Enhancers	Brain Anterior Caudate	brain
21	chr22:30787000-30787800	Enhancers	Brain Substantia Nigra	brain
22	chr22:30787000-30787800	Enhancers	HSMM	muscle
23	chr22:30787000-30788000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr22:30787000-30788000	Enhancers	Brain Cingulate Gyrus	brain
25	chr22:30787000-30788000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr22:30787000-30788200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr22:30787000-30788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:30787000-30789800	Enhancers	Primary B cells from cord blood	blood
29	chr22:30787000-30789800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:30787000-30789800	Enhancers	Dnd41	blood
31	chr22:30787200-30787800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr22:30787200-30787800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr22:30787200-30787800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30787200-30787800	Enhancers	NHLF	lung
35	chr22:30787200-30788000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:30787200-30788000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:30787200-30788000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr22:30787200-30788000	Enhancers	NH-A	brain
39	chr22:30787200-30788600	Enhancers	GM12878-XiMat	blood
40	chr22:30787200-30789000	Enhancers	Brain Hippocampus Middle	brain
41	chr22:30787200-30789600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr22:30787200-30789800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr22:30787200-30790000	Enhancers	HepG2	liver
44	chr22:30787400-30787800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr22:30787400-30787800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr22:30787400-30787800	Enhancers	Brain Angular Gyrus	brain
47	chr22:30787400-30787800	Enhancers	Fetal Intestine Large	intestine
48	chr22:30787400-30787800	Enhancers	Spleen	Spleen
49	chr22:30787400-30787800	Enhancers	HSMMtube	muscle
50	chr22:30787400-30787800	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links