Variant report

Variant	rs73049011
Chromosome Location	chr7:5602941-5602942
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	FOSL2	chr7:5602008-5603089	A549	lung:	n/a	chr7:5602754-5602764 chr7:5602406-5602416 chr7:5602755-5602763 chr7:5602405-5602417 chr7:5602406-5602416 chr7:5602753-5602765 chr7:5602406-5602416 chr7:5602407-5602415 chr7:5602754-5602764 chr7:5602754-5602764
2	EP300	chr7:5602756-5603535	A549	lung:	n/a	n/a
3	CTCF	chr7:5602900-5603050	HUVEC	blood vessel:	n/a	n/a
4	BHLHE40	chr7:5602872-5603490	K562	blood:	n/a	n/a
5	MAX	chr7:5601442-5603495	A549	lung:	n/a	chr7:5602244-5602254
6	POLR2A	chr7:5602759-5603570	A549	lung:	n/a	n/a
7	MAZ	chr7:5601520-5603624	IMR90	lung:	n/a	chr7:5602244-5602254
8	MAX	chr7:5602677-5603649	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr7:5602860-5603010	A549	lung:	n/a	n/a
10	MAZ	chr7:5602246-5603559	Hela-S3	cervix:	n/a	n/a
11	ELF1	chr7:5601587-5603568	MCF-7	breast:	n/a	n/a
12	CHD2	chr7:5602238-5603527	Hela-S3	cervix:	n/a	n/a
13	ZBTB7A	chr7:5601523-5603566	ECC-1	luminal epithelium:	n/a	chr7:5602743-5602751
14	ZNF143	chr7:5602855-5603580	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:5601627-5603459	H1-hESC	embryonic stem cell:	n/a	n/a
16	EP300	chr7:5601650-5603657	ECC-1	luminal epithelium:	n/a	chr7:5602505-5602521 chr7:5602496-5602512
17	POLR2A	chr7:5602186-5602956	PANC-1	pancreas:	n/a	n/a
18	RAD21	chr7:5601611-5603633	HCT-116	colon:	n/a	chr7:5602390-5602403 chr7:5603374-5603393 chr7:5602326-5602335
19	JUND	chr7:5601627-5603530	H1-hESC	embryonic stem cell:	n/a	chr7:5602754-5602764 chr7:5602406-5602416 chr7:5602755-5602763 chr7:5602405-5602417 chr7:5602406-5602416 chr7:5602753-5602765 chr7:5602406-5602416 chr7:5603271-5603285 chr7:5602407-5602415 chr7:5602754-5602764 chr7:5602405-5602416 chr7:5602754-5602764 chr7:5603242-5603251
20	SMARCB1	chr7:5601732-5603536	Hela-S3	cervix:	n/a	chr7:5602754-5602763 chr7:5602406-5602415
21	MAFK	chr7:5602899-5603533	K562	blood:	n/a	n/a
22	MAFK	chr7:5602204-5603086	HepG2	liver:	n/a	chr7:5602407-5602417 chr7:5602411-5602422 chr7:5602406-5602421 chr7:5602408-5602417 chr7:5602411-5602422
23	MAX	chr7:5601557-5603620	SK-N-SH	brain:	n/a	chr7:5602244-5602254
24	BACH1	chr7:5601601-5603549	H1-hESC	embryonic stem cell:	n/a	n/a
25	SMC3	chr7:5602727-5603598	K562	blood:	n/a	chr7:5603379-5603389 chr7:5603375-5603389 chr7:5602881-5602888
26	MAZ	chr7:5601645-5603601	K562	blood:	n/a	chr7:5602244-5602254
27	ZNF143	chr7:5602939-5603541	Hela-S3	cervix:	n/a	n/a
28	MAX	chr7:5601505-5603642	A549	lung:	n/a	chr7:5602244-5602254
29	RAD21	chr7:5602539-5603597	IMR90	lung:	n/a	chr7:5603374-5603393
30	RAD21	chr7:5602762-5603666	HCT-116	colon:	n/a	chr7:5603374-5603393
31	ZBTB7A	chr7:5601601-5603574	ECC-1	luminal epithelium:	n/a	chr7:5602743-5602751
32	POLR2A	chr7:5601520-5603555	SK-N-SH	brain:	n/a	n/a
33	ZEB1	chr7:5602937-5603501	GM12878	blood:	n/a	chr7:5603138-5603149
34	POLR2A	chr7:5602915-5602949	HUVEC	blood vessel:	n/a	n/a
35	RAD21	chr7:5601151-5603648	SK-N-SH	brain:	n/a	chr7:5602390-5602403 chr7:5603374-5603393 chr7:5602326-5602335
36	MYC	chr7:5601602-5602972	K562	blood:	n/a	chr7:5602244-5602254
37	RFX5	chr7:5602265-5603564	Hela-S3	cervix:	n/a	chr7:5603303-5603312
38	JUN	chr7:5601429-5603626	K562	blood:	n/a	chr7:5602754-5602764 chr7:5602406-5602416 chr7:5602755-5602763 chr7:5602405-5602417 chr7:5602406-5602416 chr7:5602753-5602765 chr7:5602406-5602416 chr7:5603271-5603285 chr7:5602407-5602415 chr7:5602754-5602764 chr7:5602754-5602764 chr7:5603242-5603251
39	ZEB1	chr7:5601492-5603572	HepG2	liver:	n/a	chr7:5602331-5602338 chr7:5603138-5603149
40	RAD21	chr7:5602172-5603000	SK-N-SH_RA	brain:	n/a	chr7:5602390-5602403 chr7:5602326-5602335
41	EP300	chr7:5602225-5603549	K562	blood:	n/a	chr7:5602505-5602521 chr7:5602496-5602512
42	REST	chr7:5601813-5603563	A549	lung:	n/a	chr7:5602737-5602750 chr7:5602983-5602996 chr7:5602734-5602743 chr7:5602462-5602475 chr7:5603140-5603153 chr7:5602509-5602529 chr7:5603180-5603187 chr7:5602511-5602524
43	RAD21	chr7:5602813-5603569	MCF-7	breast:	n/a	chr7:5603374-5603393
44	MAX	chr7:5602820-5603617	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:5601600-5603781	SK-N-SH	brain:	n/a	chr7:5603376-5603389 chr7:5603373-5603391 chr7:5603376-5603389 chr7:5603375-5603396 chr7:5603374-5603390
46	HCFC1	chr7:5601428-5603558	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr7:5602517-5603588	A549	lung:	n/a	chr7:5603376-5603389 chr7:5603373-5603391 chr7:5603376-5603389 chr7:5603375-5603396 chr7:5603374-5603390
48	POLR2A	chr7:5602807-5603000	A549	lung:	n/a	n/a
49	CTCF	chr7:5602790-5603599	HCT-116	colon:	n/a	chr7:5603376-5603389 chr7:5603373-5603391 chr7:5603376-5603389 chr7:5603375-5603396 chr7:5603374-5603390
50	CTCF	chr7:5602860-5603010	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5467744..5470492-chr7:5602322..5603913,2	MCF-7	breast:
2	chr7:5601103..5603390-chr7:5631508..5633975,3	MCF-7	breast:
3	chr7:5459451..5462326-chr7:5602186..5603926,2	MCF-7	breast:
4	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
5	chr7:5463794..5465765-chr7:5601700..5603411,2	MCF-7	breast:
6	chr7:5532197..5537592-chr7:5593884..5603950,17	MCF-7	breast:
7	chr7:5601206..5603452-chr7:5630242..5632933,3	MCF-7	breast:

Variant related genes	Relation type
ACTB	TF binding region
ENSG00000182095	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000241269	Chromatin interaction
ENSG00000188365	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4724709	0.92[EUR][1000 genomes]
rs73047193	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73049003	0.97[EUR][1000 genomes]
rs73049007	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73049012	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049016	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049019	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052777	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
10	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
11	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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 miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
13	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	279 gene(s)	inside rSNPs	diseases
14	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
15	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
16	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
17	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
18	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
20	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5601400-5603400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr7:5601400-5603400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr7:5601600-5603200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:5601600-5603200	Flanking Active TSS	GM12878-XiMat	blood
5	chr7:5601600-5603400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:5601600-5603400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:5601600-5603400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:5601600-5603400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:5601600-5603400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:5601600-5603400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr7:5601600-5603400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr7:5601600-5603400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:5601600-5603400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr7:5601600-5603400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr7:5601600-5603400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr7:5601600-5603400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:5601600-5603400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:5601600-5603400	Flanking Active TSS	HMEC	breast
19	chr7:5601600-5603600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:5601600-5603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:5601600-5603600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr7:5601600-5603600	Flanking Active TSS	NHEK	skin
23	chr7:5601800-5603000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:5601800-5603200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr7:5601800-5603200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:5601800-5603200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:5601800-5603200	Flanking Active TSS	Placenta	Placenta
28	chr7:5601800-5603400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:5601800-5603400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:5601800-5603400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:5601800-5603400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:5601800-5603400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:5601800-5603400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:5601800-5603400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:5601800-5603400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:5601800-5603400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:5601800-5603400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:5601800-5603400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:5601800-5603400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr7:5601800-5603400	Enhancers	Lung	lung
41	chr7:5601800-5603400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr7:5601800-5603400	Enhancers	Spleen	Spleen
43	chr7:5601800-5603400	Flanking Active TSS	HUVEC	blood vessel
44	chr7:5601800-5603400	Flanking Active TSS	Osteobl	bone
45	chr7:5601800-5603600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr7:5601800-5603600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr7:5601800-5603600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr7:5602000-5603000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr7:5602000-5603200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:5602000-5603200	Bivalent Enhancer	Stomach Mucosa	stomach

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