Variant report

Variant	rs5745573
Chromosome Location	chr6:33548112-33548113
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	chr6:33547754-33548343	GM19099	blood:	n/a	n/a
2	CTCF	chr6:33547734-33548262	K562	blood:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
3	CTCF	chr6:33547915-33548177	GM19238	blood:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
4	ELK1	chr6:33547988-33548218	K562	blood:	n/a	n/a
5	POLR2A	chr6:33547667-33548362	U87	brain:	n/a	n/a
6	POLR2A	chr6:33547750-33548192	HepG2	liver:	n/a	n/a
7	CTCF	chr6:33547941-33548142	MCF-7	breast:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
8	RAD21	chr6:33547853-33548239	HepG2	liver:	n/a	chr6:33548024-33548043 chr6:33548004-33548018
9	POLR2A	chr6:33547752-33548329	GM18526	blood:	n/a	n/a
10	CTCF	chr6:33547980-33548130	GM12801	blood:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
11	STAT5A	chr6:33547946-33548415	GM12878	blood:	n/a	n/a
12	CHD2	chr6:33547819-33548235	Hela-S3	cervix:	n/a	n/a
13	ETS1	chr6:33547888-33548190	K562	blood:	n/a	chr6:33548058-33548067 chr6:33548139-33548152 chr6:33548038-33548045
14	POLR2A	chr6:33547784-33548275	SK-N-SH	brain:	n/a	n/a
15	HEY1	chr6:33547772-33548114	HepG2	liver:	n/a	n/a
16	RAD21	chr6:33547899-33548184	K562	blood:	n/a	chr6:33548024-33548043 chr6:33548004-33548018
17	POLR2A	chr6:33547785-33548208	A549	lung:	n/a	n/a
18	ZNF143	chr6:33547928-33548192	Hela-S3	cervix:	n/a	chr6:33548141-33548159
19	RCOR1	chr6:33547788-33548333	HepG2	liver:	n/a	n/a
20	TAF1	chr6:33547578-33548220	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:33544423-33548349	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:33547792-33548161	GM12891	blood:	n/a	n/a
23	CTCF	chr6:33548020-33548170	HA-sp	spinal cord:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
24	GABPA	chr6:33547748-33548324	A549	lung:	n/a	n/a
25	POLR2A	chr6:33547758-33548418	H1-neurons	neurons:	n/a	n/a
26	HMGN3	chr6:33547329-33548196	K562	blood:	n/a	n/a
27	POLR2A	chr6:33547738-33548234	HepG2	liver:	n/a	n/a
28	TAF1	chr6:33547937-33548191	H1-neurons	neurons:	n/a	n/a
29	MXI1	chr6:33547981-33548181	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:33547980-33548130	AG09319	gingival:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
31	POLR2A	chr6:33547787-33548322	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr6:33547980-33548130	K562	blood:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
33	SP2	chr6:33547737-33548377	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:33547774-33548313	K562	blood:	n/a	n/a
35	CTCF	chr6:33547905-33548173	GM12891	blood:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
36	ELK1	chr6:33548006-33548224	GM12878	blood:	n/a	n/a
37	STAT3	chr6:33547770-33548223	MCF10A-Er-Src	breast:	n/a	chr6:33547900-33547914 chr6:33547902-33547911 chr6:33547903-33547912
38	RAD21	chr6:33547947-33548212	HepG2	liver:	n/a	chr6:33548024-33548043 chr6:33548004-33548018
39	SMC3	chr6:33547889-33548198	K562	blood:	n/a	n/a
40	CTCF	chr6:33547980-33548130	GM12865	blood:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
41	TCF7L2	chr6:33547946-33548381	Hela-S3	cervix:	n/a	chr6:33548210-33548226 chr6:33548214-33548223 chr6:33548210-33548226 chr6:33548211-33548225
42	ATF1	chr6:33547888-33548200	K562	blood:	n/a	n/a
43	SMC3	chr6:33547989-33548387	HepG2	liver:	n/a	n/a
44	MAX	chr6:33547944-33548387	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr6:33547892-33548171	HepG2	liver:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
46	POLR2A	chr6:33547765-33548385	GM12891	blood:	n/a	n/a
47	CTCF	chr6:33547927-33548170	GM10266	blood:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042
48	POLR2A	chr6:33547656-33548283	PBDE	blood:	n/a	n/a
49	MAZ	chr6:33547858-33548484	IMR90	lung:	n/a	n/a
50	CTCF	chr6:33547516-33548375	SK-N-SH	brain:	n/a	chr6:33548026-33548044 chr6:33548027-33548043 chr6:33548021-33548042

No.	Distal block	Cell Line	Cell type
1	chr6:33381203..33384118-chr6:33546265..33549089,2	K562	blood:
2	chr19:50432772..50433317-chr6:33548039..33548579,2	NB4	blood:
3	chr6:33538758..33539282-chr6:33548033..33548541,2	K562	blood:
4	chr6:33546298..33549471-chr6:33550091..33553469,5	K562	blood:
5	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:

Variant related genes	Relation type
BAK1	TF binding region
GGNBP1	TF binding region
ENSG00000104951	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000213024	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28634082	1.00[AMR][1000 genomes]
rs5745583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6924988	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33545600-33548200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr6:33546000-33548200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:33546000-33548400	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr6:33546200-33548200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:33546200-33548200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:33546200-33548200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:33546200-33548200	Active TSS	Duodenum Mucosa	Duodenum
10	chr6:33546400-33548200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:33546400-33548200	Active TSS	A549	lung
12	chr6:33546600-33548200	Active TSS	GM12878-XiMat	blood
13	chr6:33546600-33548200	Active TSS	HSMM	muscle
14	chr6:33546800-33548200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:33546800-33548200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:33546800-33548200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:33546800-33548200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:33546800-33548200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:33546800-33548200	Active TSS	Primary T cells from cord blood	blood
20	chr6:33546800-33548200	Active TSS	Brain Anterior Caudate	brain
21	chr6:33546800-33548200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:33546800-33548200	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr6:33546800-33548200	Active TSS	K562	blood
24	chr6:33546800-33548200	Active TSS	NH-A	brain
25	chr6:33546800-33548200	Active TSS	NHDF-Ad	bronchial
26	chr6:33546800-33548200	Active TSS	Osteobl	bone
27	chr6:33546800-33548400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr6:33546800-33548400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:33546800-33548400	Active TSS	Left Ventricle	heart
30	chr6:33547000-33548200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:33547000-33548200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:33547000-33548200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:33547000-33548200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:33547000-33548200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr6:33547000-33548200	Active TSS	Hela-S3	cervix
36	chr6:33547000-33548200	Active TSS	NHLF	lung
37	chr6:33547000-33548400	Active TSS	Fetal Kidney	kidney
38	chr6:33547000-33548400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:33547200-33548200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:33547200-33548200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:33547200-33548200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:33547200-33548200	Flanking Active TSS	Placenta	Placenta
43	chr6:33547200-33548200	Active TSS	HSMMtube	muscle
44	chr6:33547200-33548400	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr6:33547400-33548200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:33547400-33548200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:33547400-33548200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:33547400-33548200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:33547400-33548200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:33547400-33548200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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