Variant report

Variant	rs560892042
Chromosome Location	chr22:30686876-30686877
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	chr22:30685723-30686994	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:30685235-30687312	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:30686859-30687092	HepG2	liver:	n/a	n/a
4	EBF1	chr22:30686650-30686961	GM12878	blood:	n/a	chr22:30686860-30686871
5	POLR2A	chr22:30685366-30688017	GM12892	blood:	n/a	n/a
6	POLR2A	chr22:30686220-30687132	GM12878	blood:	n/a	n/a
7	NR3C1	chr22:30686843-30687416	ECC-1	luminal epithelium:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
8	ELF1	chr22:30686753-30687458	MCF-7	breast:	n/a	n/a
9	RUNX3	chr22:30686616-30686972	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:30686553-30687170	GM12892	blood:	n/a	n/a
11	EBF1	chr22:30686683-30687039	GM12878	blood:	n/a	chr22:30686860-30686871
12	POLR2A	chr22:30685344-30687144	GM12878	blood:	n/a	n/a
13	POLR2A	chr22:30685268-30686959	GM18951	blood:	n/a	n/a
14	EP300	chr22:30686534-30687461	ECC-1	luminal epithelium:	n/a	n/a
15	NR3C1	chr22:30686848-30687443	ECC-1	luminal epithelium:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
16	POLR2A	chr22:30685291-30687284	GM12892	blood:	n/a	n/a
17	POLR2A	chr22:30685327-30687530	GM18505	blood:	n/a	n/a
18	POLR2A	chr22:30686864-30687245	MCF-7	breast:	n/a	n/a
19	POLR2A	chr22:30686562-30687373	PFSK-1	brain:	n/a	n/a
20	ELF1	chr22:30685101-30687172	GM12878	blood:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30685584-30685593 chr22:30686342-30686351 chr22:30685383-30685396
21	POLR2A	chr22:30686149-30686879	GM12891	blood:	n/a	n/a
22	POLR2A	chr22:30685305-30687090	GM15510	blood:	n/a	n/a
23	POLR2A	chr22:30686322-30687425	HUVEC	blood vessel:	n/a	n/a
24	TCF12	chr22:30686577-30687570	ECC-1	luminal epithelium:	n/a	chr22:30687153-30687161
25	MXI1	chr22:30684871-30687521	SK-N-SH	brain:	n/a	chr22:30685923-30685932
26	POLR2A	chr22:30685794-30687323	GM12878	blood:	n/a	n/a
27	STAT3	chr22:30686788-30687369	MCF10A-Er-Src	breast:	n/a	chr22:30686962-30686970 chr22:30687150-30687161 chr22:30686875-30686887
28	TCF12	chr22:30686801-30687517	ECC-1	luminal epithelium:	n/a	chr22:30687153-30687161
29	POLR2A	chr22:30685284-30687235	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:30686783-30686894	ProgFib	skin:	n/a	n/a
31	STAT3	chr22:30686804-30687369	MCF10A-Er-Src	breast:	n/a	chr22:30686962-30686970 chr22:30687150-30687161 chr22:30686875-30686887
32	NR2F2	chr22:30686835-30687553	MCF-7	breast:	n/a	n/a
33	POLR2A	chr22:30685223-30687351	GM12892	blood:	n/a	n/a
34	POLR2A	chr22:30686400-30687099	K562	blood:	n/a	n/a
35	RUNX3	chr22:30685939-30687014	GM12878	blood:	n/a	n/a
36	STAT3	chr22:30686793-30687355	MCF10A-Er-Src	breast:	n/a	chr22:30686962-30686970 chr22:30687150-30687161 chr22:30686875-30686887
37	POLR2A	chr22:30685161-30687933	GM12878	blood:	n/a	n/a
38	POLR2A	chr22:30686619-30687213	HepG2	liver:	n/a	n/a
39	NR2F2	chr22:30686836-30687554	MCF-7	breast:	n/a	n/a
40	POLR2A	chr22:30685442-30688222	K562	blood:	n/a	n/a
41	NR3C1	chr22:30686791-30687397	A549	lung:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
42	POLR2A	chr22:30686603-30687051	ECC-1	luminal epithelium:	n/a	n/a
43	MAZ	chr22:30683390-30687464	IMR90	lung:	n/a	chr22:30685833-30685843
44	MAZ	chr22:30686736-30687289	K562	blood:	n/a	n/a
45	POLR2A	chr22:30686739-30687361	HUVEC	blood vessel:	n/a	n/a
46	ZNF263	chr22:30686563-30687874	HEK293-T-REx	kidney:	n/a	chr22:30686955-30686964 chr22:30686791-30686800 chr22:30686876-30686885 chr22:30687640-30687649 chr22:30686956-30686977 chr22:30687095-30687104
47	YY1	chr22:30686612-30686986	GM12878	blood:	n/a	n/a
48	POLR2A	chr22:30685329-30687253	GM19193	blood:	n/a	n/a
49	NFATC1	chr22:30686140-30687110	GM12878	blood:	n/a	n/a
50	NFIC	chr22:30686753-30687565	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
2	chr22:30640449..30642621-chr22:30686801..30689268,2	MCF-7	breast:
3	chr22:30686791..30687342-chr22:30932110..30932929,2	MCF-7	breast:
4	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
5	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
6	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
7	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
8	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
9	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:

Variant related genes	Relation type
GATSL3	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	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
5	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv522605	chr22:30685076-30691631	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30685800-30687200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr22:30685800-30687200	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr22:30685800-30687400	Enhancers	HSMMtube	muscle
4	chr22:30685800-30687800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:30686000-30687000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:30686000-30687000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr22:30686000-30687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr22:30686000-30687400	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr22:30686000-30687600	Enhancers	Stomach Mucosa	stomach
10	chr22:30686000-30688200	Enhancers	Fetal Heart	heart
11	chr22:30686000-30700000	Weak transcription	Fetal Kidney	kidney
12	chr22:30686200-30687000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr22:30686200-30687000	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr22:30686200-30687000	Weak transcription	Fetal Brain Female	brain
15	chr22:30686200-30687000	Enhancers	Fetal Muscle Leg	muscle
16	chr22:30686200-30687000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr22:30686200-30687200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr22:30686200-30687200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr22:30686200-30687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:30686200-30687200	Enhancers	Fetal Stomach	stomach
21	chr22:30686200-30687200	Enhancers	Thymus	Thymus
22	chr22:30686200-30687200	Enhancers	A549	lung
23	chr22:30686200-30687400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:30686200-30687400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:30686200-30687400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:30686200-30687400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr22:30686200-30687400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr22:30686200-30687400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:30686200-30687400	Enhancers	Fetal Intestine Large	intestine
30	chr22:30686200-30687600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:30686200-30687600	Enhancers	Primary hematopoietic stem cells	blood
32	chr22:30686200-30687600	Enhancers	Esophagus	oesophagus
33	chr22:30686200-30687600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr22:30686200-30687600	Genic enhancers	Fetal Intestine Small	intestine
35	chr22:30686200-30687600	Enhancers	Fetal Lung	lung
36	chr22:30686200-30687600	Enhancers	Fetal Muscle Trunk	muscle
37	chr22:30686200-30687600	Enhancers	Gastric	stomach
38	chr22:30686200-30687600	Enhancers	NHLF	lung
39	chr22:30686200-30687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:30686200-30687800	Enhancers	Brain Hippocampus Middle	brain
41	chr22:30686200-30687800	Enhancers	Lung	lung
42	chr22:30686200-30687800	Enhancers	NH-A	brain
43	chr22:30686200-30687800	Enhancers	NHDF-Ad	bronchial
44	chr22:30686200-30688000	Enhancers	Liver	Liver
45	chr22:30686200-30688000	Enhancers	Right Ventricle	heart
46	chr22:30686200-30688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr22:30686200-30688000	Enhancers	HUVEC	blood vessel
48	chr22:30686200-30688200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr22:30686200-30688200	Weak transcription	Aorta	Aorta
50	chr22:30686200-30688200	Enhancers	Brain Angular Gyrus	brain

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