Variant report

Variant	rs539432033
Chromosome Location	chr5:179232510-179232511
allele	A/C
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	chr5:179232457-179233676	GM12878	blood:	n/a	n/a
2	MAZ	chr5:179232317-179234572	Hela-S3	cervix:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
3	POLR2A	chr5:179232175-179232907	K562	blood:	n/a	n/a
4	GTF2F1	chr5:179232302-179232560	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:179224667-179233676	HL-60	blood:	n/a	n/a
6	POLR2A	chr5:179230590-179233696	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr5:179232488-179234597	K562	blood:	n/a	chr5:179234237-179234246
8	RFX5	chr5:179232344-179232530	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:179232156-179232597	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:179230770-179234550	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:179232343-179234662	HUVEC	blood vessel:	n/a	n/a
12	SMC3	chr5:179232248-179232745	Hela-S3	cervix:	n/a	chr5:179232662-179232672
13	HMGN3	chr5:179232471-179234681	K562	blood:	n/a	n/a
14	MAX	chr5:179232237-179233355	A549	lung:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
15	MAX	chr5:179232464-179233315	NB4	blood:	n/a	chr5:179232753-179232763 chr5:179232882-179232892
16	MAZ	chr5:179232286-179233715	IMR90	lung:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
17	POLR2A	chr5:179232265-179232697	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr5:179232019-179234611	IMR90	lung:	n/a	n/a
19	TCF12	chr5:179231946-179232633	A549	lung:	n/a	n/a
20	ZBTB7A	chr5:179232461-179234657	K562	blood:	n/a	chr5:179233377-179233384
21	ELF1	chr5:179232488-179233613	K562	blood:	n/a	chr5:179232952-179232964 chr5:179232879-179232891 chr5:179233250-179233262
22	POLR2A	chr5:179231916-179232582	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:179231839-179234641	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:179232134-179234679	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr5:179232508-179234778	ProgFib	skin:	n/a	n/a
26	POLR2A	chr5:179232311-179234621	A549	lung:	n/a	n/a
27	MAX	chr5:179232508-179233336	GM12878	blood:	n/a	chr5:179232753-179232763 chr5:179232882-179232892
28	MXI1	chr5:179232105-179232877	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr5:179232055-179233585	Hela-S3	cervix:	n/a	chr5:179233354-179233364
30	MXI1	chr5:179231675-179234766	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr5:179228779-179234761	K562	blood:	n/a	n/a
32	CTCF	chr5:179232460-179232610	AG04449	skin:	n/a	n/a
33	MAX	chr5:179231886-179234746	A549	lung:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
34	POLR2A	chr5:179232065-179234550	Raji	blood:	n/a	n/a
35	CHD1	chr5:179232352-179233567	GM12878	blood:	n/a	chr5:179233354-179233364
36	ELK1	chr5:179232254-179232635	Hela-S3	cervix:	n/a	n/a
37	E2F6	chr5:179232452-179233451	A549	lung:	n/a	chr5:179233079-179233088 chr5:179232825-179232834 chr5:179233382-179233391 chr5:179233029-179233044 chr5:179233379-179233389
38	SMARCB1	chr5:179232127-179234584	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr5:179231922-179234638	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:179232034-179233686	Hela-S3	cervix:	n/a	n/a
41	ZNF263	chr5:179231727-179232864	HEK293-T-REx	kidney:	n/a	chr5:179231999-179232020
42	CREB1	chr5:179231978-179234626	HepG2	liver:	n/a	n/a
43	HDAC2	chr5:179232353-179233488	MCF-7	breast:	n/a	n/a
44	POLR2A	chr5:179231633-179232708	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:179229521-179234618	MCF-7	breast:	n/a	n/a
46	SIN3AK20	chr5:179232342-179233671	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr5:179231931-179232785	PBDE	blood:	n/a	n/a
48	UBTF	chr5:179232385-179234626	K562	blood:	n/a	n/a
49	MAX	chr5:179231894-179233669	HepG2	liver:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
50	MXI1	chr5:179232102-179233573	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
2	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
3	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
4	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
5	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
6	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
7	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
8	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
9	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
10	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
11	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
12	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:

Variant related genes	Relation type
SQSTM1	TF binding region
MGAT4B	TF binding region
ENSG00000127022	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000169045	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	chr5:179230400-179232600	Flanking Active TSS	HepG2	liver
4	chr5:179230400-179232800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr5:179230600-179232800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:179230800-179232600	Genic enhancers	Spleen	Spleen
7	chr5:179230800-179232600	Flanking Active TSS	GM12878-XiMat	blood
8	chr5:179230800-179232800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:179230800-179232800	Enhancers	Fetal Brain Male	brain
10	chr5:179230800-179233000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:179231000-179232600	Flanking Active TSS	Liver	Liver
12	chr5:179231000-179232800	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr5:179231200-179232800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr5:179231200-179233200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr5:179231400-179232600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr5:179231600-179232600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:179231600-179232600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:179231600-179232600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
19	chr5:179231600-179232800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr5:179231600-179232800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr5:179231600-179233000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr5:179231800-179232600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:179231800-179232600	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr5:179231800-179232600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:179231800-179232600	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr5:179231800-179232600	Flanking Active TSS	Osteobl	bone
27	chr5:179231800-179232800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr5:179231800-179232800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr5:179231800-179232800	Flanking Active TSS	Colonic Mucosa	Colon
30	chr5:179231800-179232800	Flanking Active TSS	Fetal Brain Female	brain
31	chr5:179231800-179232800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr5:179231800-179232800	Flanking Active TSS	HMEC	breast
33	chr5:179231800-179232800	Flanking Active TSS	HUVEC	blood vessel
34	chr5:179231800-179233000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr5:179232000-179232600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:179232000-179232600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:179232000-179232600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:179232000-179232600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:179232000-179232600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:179232000-179232600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr5:179232000-179232600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:179232000-179232600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr5:179232000-179232600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr5:179232000-179232600	Flanking Active TSS	Esophagus	oesophagus
45	chr5:179232000-179232600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
46	chr5:179232000-179232600	Flanking Active TSS	Hela-S3	cervix
47	chr5:179232000-179232600	Flanking Active TSS	HSMM	muscle
48	chr5:179232000-179232600	Flanking Active TSS	NH-A	brain
49	chr5:179232000-179232800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:179232000-179232800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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