Variant report

Variant	rs545020410
Chromosome Location	chr5:179232785-179232786
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	CTCF	chr5:179232730-179232796	GM19238	blood:	n/a	n/a
2	POLR2A	chr5:179232763-179232995	HCT-116	colon:	n/a	n/a
3	CTCF	chr5:179232640-179232790	Caco-2	colon:	n/a	chr5:179232709-179232722
4	POLR2A	chr5:179232457-179233676	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:179232710-179233433	HUVEC	blood vessel:	n/a	n/a
6	MAZ	chr5:179232317-179234572	Hela-S3	cervix:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
7	CTCF	chr5:179232686-179232811	MCF-7	breast:	n/a	chr5:179232709-179232722
8	YY1	chr5:179232626-179233610	K562	blood:	n/a	chr5:179232825-179232834 chr5:179232879-179232893
9	POLR2A	chr5:179232175-179232907	K562	blood:	n/a	n/a
10	CTCF	chr5:179232640-179232790	NHEK	skin:	n/a	chr5:179232709-179232722
11	POLR2A	chr5:179232532-179233632	GM12892	blood:	n/a	n/a
12	POLR2A	chr5:179232589-179233635	K562	blood:	n/a	n/a
13	POLR2A	chr5:179232771-179234571	GM18951	blood:	n/a	n/a
14	MYC	chr5:179232768-179232863	K562	blood:	n/a	n/a
15	CTCF	chr5:179232720-179232870	GM12874	blood:	n/a	n/a
16	POLR2A	chr5:179232578-179233649	H1-neurons	neurons:	n/a	n/a
17	CTCF	chr5:179232720-179232870	AG04449	skin:	n/a	n/a
18	CREB1	chr5:179232557-179232921	A549	lung:	n/a	n/a
19	POLR2A	chr5:179232676-179233664	PANC-1	pancreas:	n/a	n/a
20	CTCF	chr5:179232674-179232837	K562	blood:	n/a	chr5:179232709-179232722
21	POLR2A	chr5:179224667-179233676	HL-60	blood:	n/a	n/a
22	POLR2A	chr5:179232512-179234564	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:179230590-179233696	Hela-S3	cervix:	n/a	n/a
24	MXI1	chr5:179232522-179234065	GM12878	blood:	n/a	n/a
25	MYC	chr5:179232694-179233368	K562	blood:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
26	CTCF	chr5:179232640-179232790	SK-N-SH_RA	brain:	n/a	chr5:179232709-179232722
27	CCNT2	chr5:179232488-179234597	K562	blood:	n/a	chr5:179234237-179234246
28	POLR2A	chr5:179232520-179233675	GM12878	blood:	n/a	n/a
29	PAX5	chr5:179232653-179233282	GM12892	blood:	n/a	n/a
30	MYC	chr5:179232736-179232909	HepG2	liver:	n/a	chr5:179232753-179232763 chr5:179232882-179232892
31	POLR2A	chr5:179230770-179234550	Hela-S3	cervix:	n/a	n/a
32	MAX	chr5:179232633-179232894	A549	lung:	n/a	chr5:179232753-179232763 chr5:179232882-179232892
33	RAD21	chr5:179232670-179232996	K562	blood:	n/a	chr5:179232950-179232963 chr5:179232708-179232722
34	POLR2A	chr5:179232343-179234662	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr5:179232700-179232850	HCPEpiC	choroid plexus:	n/a	chr5:179232709-179232722
36	HCFC1	chr5:179232783-179233246	K562	blood:	n/a	n/a
37	MAX	chr5:179232690-179233123	SK-N-SH	brain:	n/a	chr5:179232753-179232763 chr5:179232882-179232892
38	HMGN3	chr5:179232471-179234681	K562	blood:	n/a	n/a
39	POU2F2	chr5:179232681-179233002	GM12878	blood:	n/a	n/a
40	MAX	chr5:179232679-179233150	K562	blood:	n/a	chr5:179232753-179232763 chr5:179232882-179232892
41	MAX	chr5:179232237-179233355	A549	lung:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
42	BHLHE40	chr5:179232749-179233129	GM12878	blood:	n/a	chr5:179232950-179232966 chr5:179233072-179233088
43	MAZ	chr5:179232595-179234578	GM12878	blood:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
44	CREB1	chr5:179232605-179233474	K562	blood:	n/a	n/a
45	CTCFL	chr5:179232690-179232838	K562	blood:	n/a	n/a
46	MAX	chr5:179232464-179233315	NB4	blood:	n/a	chr5:179232753-179232763 chr5:179232882-179232892
47	MAZ	chr5:179232286-179233715	IMR90	lung:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
48	E2F6	chr5:179232653-179234605	K562	blood:	n/a	chr5:179233079-179233088 chr5:179232825-179232834 chr5:179233382-179233391 chr5:179234412-179234423 chr5:179233029-179233044 chr5:179233379-179233389
49	MXI1	chr5:179232019-179234611	IMR90	lung:	n/a	n/a
50	POLR2A	chr5:179232647-179233027	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
2	chr5:179125105..179126720-chr5:179232704..179234457,2	MCF-7	breast:
3	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
4	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
5	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
6	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
7	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
8	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
9	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
10	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
11	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
12	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
13	chr5:179232749..179234437-chr5:179284019..179286391,2	K562	blood:
14	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
15	chr5:179232661..179233569-chr5:179247811..179248453,2	MCF-7	breast:
16	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:

Variant related genes	Relation type
SQSTM1	TF binding region
MGAT4B	TF binding region
ENSG00000197226	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000245317	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
11	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv870188	chr5:179218824-179235424	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
13	nsv883280	chr5:179220010-179238794	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
14	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
15	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
16	nsv883285	chr5:179223023-179238794	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases
17	nsv600668	chr5:179227865-179242581	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv3403342	chr5:179231746-179236044	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv3427312	chr5:179232371-179234919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179226800-179233200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:179230000-179232800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:179230400-179232800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr5:179230600-179232800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:179230800-179232800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr5:179230800-179232800	Enhancers	Fetal Brain Male	brain
7	chr5:179230800-179233000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:179231000-179232800	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr5:179231200-179232800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr5:179231200-179233200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr5:179231600-179232800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr5:179231600-179232800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr5:179231600-179233000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr5:179231800-179232800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:179231800-179232800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr5:179231800-179232800	Flanking Active TSS	Colonic Mucosa	Colon
17	chr5:179231800-179232800	Flanking Active TSS	Fetal Brain Female	brain
18	chr5:179231800-179232800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr5:179231800-179232800	Flanking Active TSS	HMEC	breast
20	chr5:179231800-179232800	Flanking Active TSS	HUVEC	blood vessel
21	chr5:179231800-179233000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr5:179232000-179232800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:179232000-179232800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr5:179232000-179232800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:179232000-179232800	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr5:179232000-179232800	Flanking Active TSS	Gastric	stomach
27	chr5:179232000-179232800	Flanking Active TSS	Pancreas	Pancrea
28	chr5:179232000-179232800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr5:179232000-179232800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr5:179232000-179232800	Flanking Active TSS	K562	blood
31	chr5:179232000-179234800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr5:179232000-179235200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:179232200-179232800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr5:179232200-179232800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:179232200-179232800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:179232200-179232800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr5:179232200-179232800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr5:179232200-179232800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:179232200-179232800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:179232200-179232800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr5:179232200-179232800	Flanking Active TSS	Left Ventricle	heart
42	chr5:179232200-179233000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:179232200-179233200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:179232200-179233200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr5:179232200-179233200	Flanking Active TSS	Dnd41	blood
46	chr5:179232200-179234600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:179232200-179234600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:179232200-179234600	Active TSS	NHEK	skin
49	chr5:179232200-179234800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr5:179232200-179234800	Active TSS	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links