Variant report

Variant	rs531027928
Chromosome Location	chr22:30686173-30686174
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	PML	chr22:30685241-30686822	GM12878	blood:	n/a	chr22:30685671-30685679
3	STAT3	chr22:30686110-30686244	MCF10A-Er-Src	breast:	n/a	n/a
4	ELF1	chr22:30686105-30686573	HepG2	liver:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30686342-30686351
5	POLR2A	chr22:30685235-30687312	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:30685366-30688017	GM12892	blood:	n/a	n/a
7	POLR2A	chr22:30685344-30687144	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:30685268-30686959	GM18951	blood:	n/a	n/a
9	CTCF	chr22:30686160-30686310	HMEC	breast:	n/a	n/a
10	CTCF	chr22:30686080-30686230	GM12867	blood:	n/a	chr22:30686088-30686101
11	POLR2A	chr22:30686073-30686485	GM12892	blood:	n/a	n/a
12	YY1	chr22:30685086-30686214	HepG2	liver:	n/a	chr22:30685545-30685554 chr22:30685252-30685263 chr22:30685543-30685554 chr22:30686095-30686106 chr22:30685546-30685557 chr22:30685581-30685592 chr22:30685219-30685238
13	NFATC1	chr22:30685265-30686335	GM12878	blood:	n/a	chr22:30685853-30685866
14	POLR2A	chr22:30685098-30686646	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr22:30685285-30686404	GM12878	blood:	n/a	n/a
16	BCL3	chr22:30685237-30686243	GM12878	blood:	n/a	chr22:30685602-30685615 chr22:30685546-30685555 chr22:30685541-30685554 chr22:30685543-30685552 chr22:30685260-30685273 chr22:30685580-30685593 chr22:30685254-30685267 chr22:30685598-30685611
17	POLR2A	chr22:30685186-30686444	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr22:30685195-30686178	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr22:30685291-30687284	GM12892	blood:	n/a	n/a
20	POLR2A	chr22:30685327-30687530	GM18505	blood:	n/a	n/a
21	ELF1	chr22:30685761-30686701	MCF-7	breast:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30686342-30686351
22	POLR2A	chr22:30685249-30686464	MCF-7	breast:	n/a	n/a
23	PBX3	chr22:30685275-30686176	SK-N-SH	brain:	n/a	n/a
24	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
25	POLR2A	chr22:30686149-30686879	GM12891	blood:	n/a	n/a
26	POLR2A	chr22:30685305-30687090	GM15510	blood:	n/a	n/a
27	POLR2A	chr22:30685135-30686248	U87	brain:	n/a	n/a
28	MXI1	chr22:30684871-30687521	SK-N-SH	brain:	n/a	chr22:30685923-30685932
29	POLR2A	chr22:30685794-30687323	GM12878	blood:	n/a	n/a
30	CTCF	chr22:30686040-30686190	HPF	lung:	n/a	chr22:30686088-30686101
31	POLR2A	chr22:30685778-30686514	HepG2	liver:	n/a	n/a
32	CTCF	chr22:30686100-30686250	GM12872	blood:	n/a	n/a
33	POLR2A	chr22:30685284-30687235	GM12878	blood:	n/a	n/a
34	CTCF	chr22:30686080-30686230	HRE	kidney:	n/a	chr22:30686088-30686101
35	POLR2A	chr22:30685064-30686254	U87	brain:	n/a	n/a
36	CTCF	chr22:30686100-30686250	GM12866	blood:	n/a	n/a
37	MAX	chr22:30684937-30686218	HepG2	liver:	n/a	chr22:30685833-30685843
38	CTCF	chr22:30686060-30686210	SK-N-SH_RA	brain:	n/a	chr22:30686088-30686101
39	MXI1	chr22:30684896-30686578	IMR90	lung:	n/a	chr22:30685923-30685932
40	CTCF	chr22:30686120-30686270	NHDF-neo	bronchial:	n/a	n/a
41	POLR2A	chr22:30685223-30687351	GM12892	blood:	n/a	n/a
42	POLR2A	chr22:30685743-30686488	GM12891	blood:	n/a	n/a
43	RUNX3	chr22:30685939-30687014	GM12878	blood:	n/a	n/a
44	YY1	chr22:30685927-30686236	GM12878	blood:	n/a	chr22:30686095-30686106
45	RUNX3	chr22:30685778-30686598	GM12878	blood:	n/a	n/a
46	CTCF	chr22:30686040-30686190	GM12878	blood:	n/a	chr22:30686088-30686101
47	CHD2	chr22:30685341-30686750	GM12878	blood:	n/a	chr22:30686061-30686068
48	CTCF	chr22:30686060-30686210	HEK293	kidney:	n/a	chr22:30686088-30686101
49	CTCF	chr22:30686100-30686250	GM12868	blood:	n/a	n/a
50	POLR2A	chr22:30685161-30687933	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
2	chr22:30684284..30686749-chr22:30752450..30754272,3	MCF-7	breast:
3	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
4	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
5	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
6	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
7	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
8	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
9	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
10	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
11	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:
12	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:

Variant related genes	Relation type
GATSL3	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099992	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30683600-30686800	Flanking Active TSS	Dnd41	blood
2	chr22:30684000-30686400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:30684000-30686600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr22:30684200-30686200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr22:30684200-30686200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr22:30684200-30686200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr22:30684200-30686200	Active TSS	Brain Angular Gyrus	brain
8	chr22:30684200-30686200	Enhancers	Fetal Brain Male	brain
9	chr22:30684200-30686200	Active TSS	Ovary	ovary
10	chr22:30684400-30686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:30684400-30686200	Active TSS	Aorta	Aorta
12	chr22:30684400-30686200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr22:30684600-30686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr22:30684600-30686200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr22:30684600-30686200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:30684600-30686200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr22:30684600-30686200	Active TSS	Small Intestine	intestine
18	chr22:30684600-30686400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr22:30684800-30686200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:30684800-30686200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr22:30684800-30686200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:30684800-30686200	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr22:30684800-30686400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:30685000-30686200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr22:30685000-30686200	Active TSS	Spleen	Spleen
26	chr22:30685000-30686400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr22:30685200-30686200	Active TSS	Brain Cingulate Gyrus	brain
28	chr22:30685200-30686200	Active TSS	Brain Germinal Matrix	brain
29	chr22:30685200-30686200	Active TSS	Fetal Brain Female	brain
30	chr22:30685200-30686200	Active TSS	Psoas Muscle	Psoas
31	chr22:30685400-30686200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:30685600-30686200	Weak transcription	Gastric	stomach
33	chr22:30685800-30686200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr22:30685800-30686200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr22:30685800-30686200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr22:30685800-30686200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr22:30685800-30686200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr22:30685800-30686200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:30685800-30686200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr22:30685800-30686200	Flanking Active TSS	Liver	Liver
41	chr22:30685800-30686200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr22:30685800-30686200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr22:30685800-30686200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr22:30685800-30686200	Flanking Active TSS	Fetal Lung	lung
45	chr22:30685800-30686200	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr22:30685800-30686200	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr22:30685800-30686200	Flanking Active TSS	HMEC	breast
48	chr22:30685800-30686200	Flanking Active TSS	HUVEC	blood vessel
49	chr22:30685800-30686200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr22:30685800-30686200	Flanking Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links