Variant report

Variant	rs192914331
Chromosome Location	chr3:121265953-121265954
allele	A/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	CEBPB	chr3:121264767-121265991	A549	lung:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
2	RAD21	chr3:121265429-121265970	ECC-1	luminal epithelium:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
3	SIX5	chr3:121264551-121266074	A549	lung:	n/a	n/a
4	MXI1	chr3:121263658-121266103	IMR90	lung:	n/a	n/a
5	RAD21	chr3:121264782-121265968	IMR90	lung:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
6	TEAD4	chr3:121265460-121265966	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:121264621-121266051	GM12878	blood:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
8	CEBPB	chr3:121264666-121266054	MCF-7	breast:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
9	CEBPB	chr3:121265292-121265994	K562	blood:	n/a	chr3:121265493-121265506 chr3:121265495-121265506
10	HCFC1	chr3:121264036-121266047	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr3:121265521-121265984	MCF-7	breast:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
12	RAD21	chr3:121264604-121266123	SK-N-SH	brain:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
13	CTCF	chr3:121265269-121266020	HCT-116	colon:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
14	RAD21	chr3:121265404-121265989	HCT-116	colon:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
15	CTCF	chr3:121265438-121265979	MCF-7	breast:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
16	RAD21	chr3:121265469-121265982	MCF-7	breast:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
17	PML	chr3:121264311-121266009	GM12878	blood:	n/a	n/a
18	CEBPB	chr3:121265317-121265984	HCT-116	colon:	n/a	chr3:121265493-121265506 chr3:121265495-121265506
19	CTCF	chr3:121264888-121265989	K562	blood:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
20	FOXA1	chr3:121265591-121265991	HepG2	liver:	n/a	n/a
21	RAD21	chr3:121264454-121266043	HCT-116	colon:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
22	CEBPB	chr3:121265309-121265961	H1-hESC	embryonic stem cell:	n/a	chr3:121265493-121265506 chr3:121265495-121265506
23	RAD21	chr3:121265508-121266049	MCF-7	breast:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
24	CEBPB	chr3:121264670-121266056	A549	lung:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
25	RAD21	chr3:121265387-121266094	A549	lung:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
26	MXI1	chr3:121263660-121266065	SK-N-SH	brain:	n/a	n/a
27	FOXM1	chr3:121265422-121266017	GM12878	blood:	n/a	n/a
28	MTA3	chr3:121264006-121265993	GM12878	blood:	n/a	n/a
29	RAD21	chr3:121265433-121265964	ECC-1	luminal epithelium:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
30	RAD21	chr3:121265462-121265974	A549	lung:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
31	CEBPB	chr3:121264706-121265963	IMR90	lung:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
32	SMC3	chr3:121264465-121266107	SK-N-SH	brain:	n/a	chr3:121265703-121265717 chr3:121264952-121264960
33	TCF12	chr3:121264164-121266019	A549	lung:	n/a	n/a
34	CEBPB	chr3:121264638-121265967	Hela-S3	cervix:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
35	SIN3AK20	chr3:121264136-121265974	HCT-116	colon:	n/a	n/a
36	SMC3	chr3:121264620-121265974	Hela-S3	cervix:	n/a	chr3:121265703-121265717 chr3:121264952-121264960
37	FOXA1	chr3:121265597-121266028	HepG2	liver:	n/a	n/a
38	YY1	chr3:121265608-121265984	SK-N-SH_RA	brain:	n/a	n/a
39	YY1	chr3:121265548-121265953	GM12878	blood:	n/a	n/a
40	CEBPB	chr3:121264766-121266044	ECC-1	luminal epithelium:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
41	RAD21	chr3:121265368-121265992	HepG2	liver:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
42	RAD21	chr3:121265403-121266007	H1-hESC	embryonic stem cell:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
43	CEBPB	chr3:121264581-121266055	HCT-116	colon:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
44	SMC3	chr3:121265315-121265956	GM12878	blood:	n/a	chr3:121265703-121265717
45	CEBPB	chr3:121264671-121265977	MCF-7	breast:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
46	YY1	chr3:121265634-121265979	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr3:121265311-121265997	ECC-1	luminal epithelium:	n/a	chr3:121265493-121265506 chr3:121265495-121265506
48	CEBPB	chr3:121264730-121265961	K562	blood:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
49	CTCF	chr3:121265486-121265960	HepG2	liver:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
50	RAD21	chr3:121265366-121266026	H1-hESC	embryonic stem cell:	n/a	chr3:121265702-121265721 chr3:121265706-121265715

No.	Distal block	Cell Line	Cell type
1	chr3:121264864..121267091-chr3:122101354..122103102,2	MCF-7	breast:
2	chr3:121263813..121266298-chr3:122398939..122401596,2	K562	blood:
3	chr3:121265150..121267222-chr3:121267374..121269393,2	K562	blood:
4	chr3:121264298..121266034-chr3:122100794..122102974,2	MCF-7	breast:
5	chr3:121264839..121267237-chr3:122281910..122284575,2	MCF-7	breast:
6	chr3:121265697..121266207-chr3:122977401..122978341,2	K562	blood:

Variant related genes	Relation type
POLQ	TF binding region
ENSG00000114023	Chromatin interaction
ENSG00000160124	Chromatin interaction
ENSG00000163840	Chromatin interaction
ENSG00000138496	Chromatin interaction
ENSG00000173193	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv2757006	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv2759172	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121263800-121266000	Active TSS	Fetal Kidney	kidney
2	chr3:121263800-121266000	Active TSS	A549	lung
3	chr3:121264200-121266000	Flanking Active TSS	Liver	Liver
4	chr3:121264800-121266000	Active TSS	Brain Anterior Caudate	brain
5	chr3:121265600-121266000	Enhancers	Pancreas	Pancrea
6	chr3:121265600-121266000	Enhancers	Small Intestine	intestine
7	chr3:121265600-121266200	Active TSS	HepG2	liver
8	chr3:121265600-121267200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:121265600-121267200	Weak transcription	Stomach Mucosa	stomach
10	chr3:121265600-121271000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:121265800-121266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:121265800-121266000	Enhancers	Primary B cells from cord blood	blood
13	chr3:121265800-121266000	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr3:121265800-121266000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:121265800-121266000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:121265800-121266000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:121265800-121266000	Enhancers	Placenta	Placenta
18	chr3:121265800-121266000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr3:121265800-121266000	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr3:121265800-121266000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr3:121265800-121266000	Enhancers	Dnd41	blood
22	chr3:121265800-121266000	Enhancers	NHLF	lung
23	chr3:121265800-121266000	Enhancers	Osteobl	bone
24	chr3:121265800-121266200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:121265800-121266400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr3:121265800-121267200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:121265800-121267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:121265800-121267200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:121265800-121267200	Weak transcription	Fetal Intestine Large	intestine
30	chr3:121265800-121267200	Weak transcription	Fetal Intestine Small	intestine
31	chr3:121265800-121267200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:121265800-121267200	Weak transcription	HMEC	breast
33	chr3:121265800-121267200	Weak transcription	NHEK	skin
34	chr3:121265800-121267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:121265800-121267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:121265800-121267800	Enhancers	GM12878-XiMat	blood
37	chr3:121265800-121268600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr3:121265800-121269200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:121265800-121269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:121265800-121270600	Weak transcription	Fetal Lung	lung
41	chr3:121265800-121270800	Weak transcription	K562	blood
42	chr3:121265800-121271200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:121265800-121271200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:121265800-121271400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:121265800-121280600	Weak transcription	H1 Cell Line	embryonic stem cell

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