Variant report

Variant	rs568045568
Chromosome Location	chr7:50860827-50860828
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	POLR2A	chr7:50859051-50861836	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:50859765-50861894	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr7:50859731-50861451	Hela-S3	cervix:	n/a	chr7:50860608-50860618 chr7:50859934-50859944
4	POLR2A	chr7:50859987-50861577	K562	blood:	n/a	n/a
5	EGR1	chr7:50860389-50861531	K562	blood:	n/a	chr7:50860938-50860948 chr7:50861156-50861171 chr7:50860536-50860549
6	POLR2A	chr7:50860730-50861259	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr7:50860356-50860853	K562	blood:	n/a	n/a
8	MAX	chr7:50860765-50861574	K562	blood:	n/a	chr7:50860937-50860947 chr7:50861424-50861434
9	YY1	chr7:50860756-50861181	K562	blood:	n/a	chr7:50860936-50860945 chr7:50860894-50860908 chr7:50861064-50861075 chr7:50861154-50861165
10	ZNF263	chr7:50859053-50862355	HEK293-T-REx	kidney:	n/a	chr7:50861142-50861151
11	TCF7L2	chr7:50860145-50861064	PANC-1	pancreas:	n/a	n/a
12	TCF7L2	chr7:50859773-50861133	Hela-S3	cervix:	n/a	n/a
13	HEY1	chr7:50859946-50861178	K562	blood:	n/a	chr7:50860893-50860908 chr7:50860895-50860910 chr7:50860513-50860528 chr7:50861114-50861129
14	TCF7L2	chr7:50860134-50861487	HCT-116	colon:	n/a	n/a
15	MAX	chr7:50859986-50861505	ECC-1	luminal epithelium:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50860151-50860161 chr7:50861424-50861434 chr7:50860216-50860225
16	HA-E2F1	chr7:50860178-50861514	Hela-S3	cervix:	n/a	chr7:50860936-50860945 chr7:50860536-50860546
17	POLR2A	chr7:50860331-50861572	A549	lung:	n/a	n/a
18	POLR2A	chr7:50860747-50860938	K562	blood:	n/a	n/a
19	ZBTB7A	chr7:50860213-50861527	K562	blood:	n/a	n/a
20	MAX	chr7:50860791-50861111	H1-hESC	embryonic stem cell:	n/a	chr7:50860937-50860947
21	E2F6	chr7:50860560-50861524	K562	blood:	n/a	chr7:50860936-50860945
22	UBTF	chr7:50859275-50861683	K562	blood:	n/a	n/a
23	MAZ	chr7:50859892-50861717	IMR90	lung:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50861424-50861434 chr7:50860216-50860225
24	MYC	chr7:50860780-50861070	MCF-7	breast:	n/a	chr7:50860937-50860947
25	POLR2A	chr7:50860774-50861179	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:50860795-50861226	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr7:50860814-50861702	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr7:50859743-50861717	K562	blood:	n/a	n/a
29	MAX	chr7:50859720-50860959	Hela-S3	cervix:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50860151-50860161 chr7:50860216-50860225
30	POLR2A	chr7:50860507-50861710	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr7:50859908-50861577	HEK293	kidney:	n/a	n/a
32	SIN3A	chr7:50860012-50861148	H1-hESC	embryonic stem cell:	n/a	chr7:50861112-50861123 chr7:50861064-50861075
33	MXI1	chr7:50859223-50861181	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr7:50860025-50861270	K562	blood:	n/a	n/a
35	MXI1	chr7:50858569-50861173	IMR90	lung:	n/a	n/a
36	POLR2A	chr7:50860741-50861480	A549	lung:	n/a	n/a
37	POLR2A	chr7:50859691-50861820	IMR90	lung:	n/a	n/a
38	MAX	chr7:50860711-50861217	A549	lung:	n/a	chr7:50860937-50860947
39	YY1	chr7:50860796-50861169	K562	blood:	n/a	chr7:50860936-50860945 chr7:50860894-50860908 chr7:50861064-50861075 chr7:50861154-50861165
40	MYC	chr7:50859556-50861560	NB4	blood:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50860151-50860161 chr7:50861424-50861434 chr7:50860216-50860225
41	HMGN3	chr7:50860160-50861618	K562	blood:	n/a	n/a
42	MAX	chr7:50859551-50861638	A549	lung:	n/a	chr7:50860937-50860947 chr7:50860539-50860549 chr7:50860151-50860161 chr7:50861424-50861434 chr7:50860216-50860225
43	E2F6	chr7:50860056-50861547	K562	blood:	n/a	chr7:50860936-50860945 chr7:50860536-50860546
44	MAX	chr7:50860743-50861147	H1-hESC	embryonic stem cell:	n/a	chr7:50860937-50860947
45	SIN3AK20	chr7:50860208-50861282	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr7:50859971-50861174	Hela-S3	cervix:	n/a	n/a
47	CCNT2	chr7:50860044-50861550	K562	blood:	n/a	chr7:50861156-50861165
48	MAX	chr7:50860707-50861202	HepG2	liver:	n/a	chr7:50860937-50860947
49	POLR2A	chr7:50859562-50861431	NB4	blood:	n/a	n/a
50	UBTF	chr7:50859957-50861659	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
2	chr5:159848892..159849860-chr7:50860666..50861462,2	NB4	blood:
3	chr7:50672342..50675062-chr7:50858858..50861329,2	K562	blood:
4	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
5	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
6	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction
ENSG00000164611	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3440721	chr7:50859483-50862031	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3439656	chr7:50859783-50862481	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3377483	chr7:50859883-50862631	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv13718	chr7:50860377-50861113	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50857200-50861800	Active TSS	Right Atrium	heart
2	chr7:50857400-50861800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:50858200-50861600	Active TSS	Left Ventricle	heart
4	chr7:50858800-50861800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:50858800-50861800	Active TSS	Pancreas	Pancrea
6	chr7:50859200-50861400	Active TSS	Esophagus	oesophagus
7	chr7:50859200-50861600	Active TSS	Lung	lung
8	chr7:50859200-50861800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:50859400-50861400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr7:50859400-50861600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:50859400-50861600	Active TSS	Aorta	Aorta
12	chr7:50859400-50861600	Active TSS	Fetal Kidney	kidney
13	chr7:50859400-50861600	Active TSS	Ovary	ovary
14	chr7:50859400-50861600	Active TSS	Psoas Muscle	Psoas
15	chr7:50859400-50861600	Active TSS	Right Ventricle	heart
16	chr7:50859400-50861800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:50859400-50861800	Bivalent/Poised TSS	Thymus	Thymus
18	chr7:50859400-50861800	Bivalent/Poised TSS	HepG2	liver
19	chr7:50859400-50861800	Active TSS	HSMM	muscle
20	chr7:50859600-50861400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:50859600-50861400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:50859600-50861400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:50859600-50861400	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr7:50859600-50861400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:50859600-50861400	Active TSS	K562	blood
26	chr7:50859600-50861600	Active TSS	HSMMtube	muscle
27	chr7:50859600-50861800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:50859600-50861800	Bivalent/Poised TSS	HMEC	breast
29	chr7:50859800-50861000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:50859800-50861000	Active TSS	Spleen	Spleen
31	chr7:50859800-50861400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:50859800-50861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:50859800-50861400	Active TSS	Hela-S3	cervix
34	chr7:50859800-50861400	Active TSS	HUVEC	blood vessel
35	chr7:50859800-50861400	Active TSS	NH-A	brain
36	chr7:50859800-50861600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:50859800-50861600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:50859800-50861600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:50859800-50861600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:50859800-50861600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:50859800-50861600	Active TSS	A549	lung
42	chr7:50859800-50861800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:50859800-50861800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:50859800-50861800	Active TSS	Gastric	stomach
45	chr7:50860000-50861200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:50860000-50861400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:50860000-50861400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:50860000-50861400	Active TSS	Rectal Smooth Muscle	rectum
49	chr7:50860000-50861600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:50860000-50861600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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