Variant report

Variant	rs376683741
Chromosome Location	chr5:43556534-43556535
allele	C/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	chr5:43555813-43557490	SK-N-MC	brain:	n/a	n/a
2	RUNX3	chr5:43556200-43557837	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:43556200-43557690	GM12878	blood:	n/a	n/a
4	POU2F2	chr5:43556459-43557465	GM12878	blood:	n/a	chr5:43556470-43556482
5	POLR2A	chr5:43556265-43557488	PANC-1	pancreas:	n/a	n/a
6	POU2F2	chr5:43556465-43557515	GM12891	blood:	n/a	chr5:43556470-43556482
7	POLR2A	chr5:43555808-43557990	GM12878	blood:	n/a	n/a
8	TCF3	chr5:43556395-43557466	GM12878	blood:	n/a	chr5:43557342-43557356 chr5:43557344-43557354
9	HEY1	chr5:43556437-43557673	K562	blood:	n/a	chr5:43557250-43557265 chr5:43557215-43557230 chr5:43557204-43557219 chr5:43556977-43556992 chr5:43557212-43557227 chr5:43557297-43557312
10	TCF12	chr5:43556365-43557545	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr5:43555881-43557925	GM12892	blood:	n/a	n/a
12	MAX	chr5:43556078-43558002	A549	lung:	n/a	n/a
13	POLR2A	chr5:43556407-43557906	HCT-116	colon:	n/a	n/a
14	TAF1	chr5:43556090-43556729	ECC-1	luminal epithelium:	n/a	n/a
15	USF1	chr5:43556362-43556737	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr5:43556309-43556769	HL-60	blood:	n/a	n/a
17	SP1	chr5:43556272-43556755	A549	lung:	n/a	chr5:43556581-43556593 chr5:43556467-43556479 chr5:43556581-43556592 chr5:43556468-43556478 chr5:43556469-43556478 chr5:43556468-43556477 chr5:43556582-43556591 chr5:43556467-43556479 chr5:43556468-43556482
18	TEAD4	chr5:43556064-43556754	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr5:43556303-43557875	IMR90	lung:	n/a	n/a
20	POLR2A	chr5:43556215-43557819	NB4	blood:	n/a	n/a
21	CTCF	chr5:43556521-43557428	Spleen_OC	spleen:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
22	CHD2	chr5:43556258-43557434	H1-hESC	embryonic stem cell:	n/a	chr5:43556469-43556479
23	HMGN3	chr5:43556349-43557934	K562	blood:	n/a	n/a
24	ZNF263	chr5:43556138-43557943	HEK293-T-REx	kidney:	n/a	chr5:43557064-43557073
25	ETS1	chr5:43556227-43557565	K562	blood:	n/a	chr5:43557521-43557532 chr5:43556428-43556435
26	CTCF	chr5:43556480-43556630	AG04449	skin:	n/a	n/a
27	EGR1	chr5:43556476-43556675	K562	blood:	n/a	n/a
28	POLR2A	chr5:43556072-43558000	MCF10A-Er-Src	breast:	n/a	n/a
29	ZBTB7A	chr5:43556115-43556748	ECC-1	luminal epithelium:	n/a	n/a
30	TAF1	chr5:43556274-43557535	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:43556382-43557577	Gliobla	brain:	n/a	n/a
32	MAX	chr5:43556173-43557663	Hela-S3	cervix:	n/a	n/a
33	YY1	chr5:43556355-43557527	K562	blood:	n/a	chr5:43557074-43557088 chr5:43557215-43557226 chr5:43556978-43556989 chr5:43557073-43557087 chr5:43557223-43557234 chr5:43557073-43557082
34	POLR2A	chr5:43556417-43556759	HUVEC	blood vessel:	n/a	n/a
35	MXI1	chr5:43556420-43557890	HepG2	liver:	n/a	n/a
36	CREB1	chr5:43556377-43556727	A549	lung:	n/a	n/a
37	USF1	chr5:43556393-43556626	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr5:43556130-43557999	GM12892	blood:	n/a	n/a
39	CCNT2	chr5:43556342-43557649	K562	blood:	n/a	chr5:43556582-43556591 chr5:43557523-43557532 chr5:43556469-43556478
40	POLR2A	chr5:43555946-43556656	K562	blood:	n/a	n/a
41	MYC	chr5:43556269-43557817	K562	blood:	n/a	n/a
42	MAX	chr5:43556171-43557455	A549	lung:	n/a	n/a
43	SP1	chr5:43556317-43556793	H1-hESC	embryonic stem cell:	n/a	chr5:43556581-43556593 chr5:43556467-43556479 chr5:43556581-43556592 chr5:43556468-43556478 chr5:43556469-43556478 chr5:43556468-43556477 chr5:43556582-43556591 chr5:43556467-43556479 chr5:43556468-43556482
44	TAF1	chr5:43555891-43557524	H1-hESC	embryonic stem cell:	n/a	n/a
45	HEY1	chr5:43556293-43557877	HepG2	liver:	n/a	chr5:43557250-43557265 chr5:43557215-43557230 chr5:43557204-43557219 chr5:43556977-43556992 chr5:43557212-43557227 chr5:43557297-43557312
46	MAZ	chr5:43556255-43557669	Hela-S3	cervix:	n/a	n/a
47	ELF1	chr5:43556237-43556778	MCF-7	breast:	n/a	n/a
48	SMARCC1	chr5:43555941-43557802	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr5:43555863-43557685	IMR90	lung:	n/a	n/a
50	CHD2	chr5:43556307-43557755	K562	blood:	n/a	chr5:43556469-43556479 chr5:43557522-43557532

No.	Distal block	Cell Line	Cell type
1	chr5:43119888..43121712-chr5:43555739..43557363,2	K562	blood:
2	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
3	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
4	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
5	chr5:43120689..43121650-chr5:43556319..43557143,3	Hela-S3	cervix:
6	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
7	chr5:43121048..43123106-chr5:43555521..43557723,3	MCF-7	breast:
8	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
9	chr3:49058506..49059032-chr5:43556383..43557190,2	Hela-S3	cervix:
10	chr1:161735480..161736094-chr5:43556295..43557137,2	Hela-S3	cervix:
11	chr5:43555203..43556754-chr5:43587792..43589517,2	MCF-7	breast:
12	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
13	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
14	chr5:43505282..43507808-chr5:43556089..43557593,2	K562	blood:
15	chr5:43556013..43559876-chr5:43586120..43588801,3	K562	blood:
16	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
17	chr5:43063931..43068016-chr5:43554200..43557480,3	K562	blood:
18	chr5:43505801..43507815-chr5:43555939..43557727,2	MCF-7	breast:
19	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:
20	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
21	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
22	chr5:43556054..43556894-chrX:154255366..154256157,2	Hela-S3	cervix:
23	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:
24	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:

Variant related genes	Relation type
PAIP1	TF binding region
ENSG00000249492	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000249286	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000118217	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000226889	Chromatin interaction
ENSG00000165775	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000178057	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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 target site	57 gene(s)	inside rSNPs	diseases
7	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	esv12689	chr5:43556383-43557492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	n/a
10	esv1792602	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases
11	esv1802364	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases
12	nsv597926	chr5:43556512-43557229	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	43 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	chr5:43554000-43557800	Active TSS	Right Ventricle	heart
2	chr5:43554800-43557400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:43554800-43557400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:43554800-43557400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:43554800-43557800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:43554800-43558400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:43555000-43557400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:43555000-43557400	Active TSS	NHLF	lung
9	chr5:43555000-43557600	Active TSS	HSMMtube	muscle
10	chr5:43555000-43557800	Active TSS	Psoas Muscle	Psoas
11	chr5:43555200-43558000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:43555200-43558000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:43555200-43558000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:43555400-43557400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:43555400-43557400	Active TSS	HMEC	breast
16	chr5:43555400-43557400	Active TSS	HSMM	muscle
17	chr5:43555400-43557400	Active TSS	NH-A	brain
18	chr5:43555400-43557800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:43555400-43558000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr5:43555400-43558000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:43555400-43558000	Active TSS	Fetal Intestine Large	intestine
22	chr5:43555600-43556800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr5:43555600-43557600	Active TSS	Fetal Stomach	stomach
24	chr5:43555600-43557600	Active TSS	Fetal Thymus	thymus
25	chr5:43555600-43557600	Active TSS	GM12878-XiMat	blood
26	chr5:43555600-43557600	Active TSS	K562	blood
27	chr5:43555600-43558000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr5:43555600-43558000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:43555600-43558000	Active TSS	Fetal Brain Female	brain
30	chr5:43555800-43556600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr5:43555800-43556600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr5:43555800-43556600	Active TSS	Fetal Heart	heart
33	chr5:43555800-43557400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:43555800-43557400	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr5:43555800-43557400	Active TSS	Fetal Muscle Trunk	muscle
36	chr5:43555800-43557400	Active TSS	Fetal Muscle Leg	muscle
37	chr5:43555800-43557400	Active TSS	NHDF-Ad	bronchial
38	chr5:43555800-43557600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:43555800-43557600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:43555800-43557600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:43555800-43557600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr5:43555800-43557600	Active TSS	Thymus	Thymus
43	chr5:43555800-43557600	Active TSS	A549	lung
44	chr5:43555800-43557800	Active TSS	Aorta	Aorta
45	chr5:43555800-43558000	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr5:43555800-43558000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:43555800-43558000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:43555800-43558000	Active TSS	Fetal Kidney	kidney
49	chr5:43556000-43556600	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr5:43556000-43556600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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