Variant report

Variant	rs7947489
Chromosome Location	chr11:85340463-85340464
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	STAT3	chr11:85339311-85340556	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:85339202-85340780	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr11:85338905-85340516	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr11:85337986-85341424	SK-N-SH	brain:	n/a	n/a
5	MAX	chr11:85338342-85340541	Hela-S3	cervix:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
6	TBP	chr11:85339044-85340581	Hela-S3	cervix:	n/a	n/a
7	MAX	chr11:85338464-85340578	NB4	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
8	MAX	chr11:85338872-85340519	A549	lung:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
9	MXI1	chr11:85339467-85340511	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr11:85338244-85340547	H1-hESC	embryonic stem cell:	n/a	chr11:85338982-85338991 chr11:85339543-85339556
11	USF1	chr11:85340065-85340480	A549	lung:	n/a	n/a
12	POLR2A	chr11:85339297-85341286	K562	blood:	n/a	n/a
13	MAX	chr11:85339081-85340466	SK-N-SH	brain:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
14	MAX	chr11:85339312-85340493	ECC-1	luminal epithelium:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
15	HCFC1	chr11:85338075-85341066	Hela-S3	cervix:	n/a	n/a
16	MAX	chr11:85339101-85340519	A549	lung:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
17	MYC	chr11:85338682-85340660	NB4	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
18	MAX	chr11:85339391-85340496	H1-hESC	embryonic stem cell:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
19	MYC	chr11:85340407-85340464	K562	blood:	n/a	n/a
20	ZNF263	chr11:85339041-85340472	HEK293-T-REx	kidney:	n/a	chr11:85339201-85339210
21	MYC	chr11:85339206-85340569	K562	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
22	E2F4	chr11:85339256-85340514	MCF10A-Er-Src	breast:	n/a	chr11:85339593-85339605 chr11:85339592-85339603 chr11:85339358-85339365 chr11:85339358-85339365 chr11:85339542-85339551 chr11:85339819-85339828 chr11:85339358-85339365
23	STAT3	chr11:85339359-85340473	MCF10A-Er-Src	breast:	n/a	n/a
24	MXI1	chr11:85339567-85340508	K562	blood:	n/a	n/a
25	MXI1	chr11:85338116-85340634	IMR90	lung:	n/a	n/a
26	USF1	chr11:85340010-85340468	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr11:85339317-85340477	MCF-7	breast:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
28	MAX	chr11:85339070-85340611	K562	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
29	USF1	chr11:85339160-85340467	HCT-116	colon:	n/a	chr11:85339632-85339643
30	MAX	chr11:85339226-85340475	Hela-S3	cervix:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
31	MYC	chr11:85339301-85340554	K562	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
32	MYC	chr11:85339389-85340785	MCF10A-Er-Src	breast:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
33	MYC	chr11:85339346-85341002	MCF10A-Er-Src	breast:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
34	POLR2A	chr11:85339148-85340556	MCF10A-Er-Src	breast:	n/a	n/a
35	ZMIZ1	chr11:85340321-85340544	K562	blood:	n/a	n/a
36	MAX	chr11:85339010-85340503	HepG2	liver:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
37	MYC	chr11:85339238-85340623	K562	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
38	MAX	chr11:85339435-85340503	H1-hESC	embryonic stem cell:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
39	MXI1	chr11:85338947-85340549	GM12878	blood:	n/a	n/a
40	TBP	chr11:85339168-85340575	K562	blood:	n/a	n/a
41	MAX	chr11:85338294-85340489	MCF-7	breast:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
42	USF2	chr11:85339254-85340582	Hela-S3	cervix:	n/a	chr11:85339632-85339643

No.	Distal block	Cell Line	Cell type
1	chr11:85338344..85340985-chr11:85434050..85436369,2	K562	blood:
2	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
3	chr11:85339388..85341161-chr11:85467592..85470414,2	MCF-7	breast:
4	chr11:85338390..85343522-chr11:85356567..85360273,9	MCF-7	breast:
5	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:
6	chr11:85336278..85337921-chr11:85339997..85342218,2	K562	blood:
7	chr11:85339692..85341655-chr11:85354490..85356940,3	MCF-7	breast:
8	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
9	chr11:85338441..85340727-chr11:85396726..85399566,2	MCF-7	breast:

Variant related genes	Relation type
DLG2	TF binding region
ENSG00000179071	Chromatin interaction
ENSG00000171202	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7115763	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers 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 target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85336000-85341000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:85336200-85340600	Active TSS	Ovary	ovary
3	chr11:85336200-85341400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:85337200-85340800	Active TSS	Right Ventricle	heart
5	chr11:85337200-85341000	Active TSS	NHLF	lung
6	chr11:85337400-85341000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:85337600-85340600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:85337600-85340800	Active TSS	Colonic Mucosa	Colon
9	chr11:85337600-85341000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:85337800-85340600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr11:85337800-85340600	Active TSS	Fetal Stomach	stomach
12	chr11:85337800-85340600	Active TSS	Left Ventricle	heart
13	chr11:85337800-85340600	Active TSS	Psoas Muscle	Psoas
14	chr11:85337800-85340600	Active TSS	NHDF-Ad	bronchial
15	chr11:85337800-85340800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:85337800-85341000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:85337800-85341000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr11:85337800-85341000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:85337800-85341200	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:85338000-85340600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:85338000-85340600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:85338000-85340600	Active TSS	Brain Substantia Nigra	brain
23	chr11:85338000-85340600	Active TSS	Fetal Intestine Large	intestine
24	chr11:85338000-85340600	Active TSS	Fetal Muscle Trunk	muscle
25	chr11:85338000-85340800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:85338000-85341000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:85338000-85341200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:85338200-85340600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:85338200-85340600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:85338200-85340600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:85338200-85340600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:85338200-85340600	Active TSS	HSMM	muscle
33	chr11:85338200-85340800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:85338400-85340600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:85338400-85340600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:85338600-85340600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:85338600-85340600	Active TSS	GM12878-XiMat	blood
38	chr11:85338600-85341000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:85339000-85341000	Active TSS	K562	blood
40	chr11:85339200-85341000	Active TSS	NHEK	skin
41	chr11:85339600-85340600	ZNF genes & repeats	Fetal Brain Male	brain
42	chr11:85339600-85340600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:85339800-85340600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:85339800-85340600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:85339800-85340600	Active TSS	Right Atrium	heart
46	chr11:85339800-85341000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:85339800-85341200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:85340000-85340600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr11:85340000-85340600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:85340000-85340600	Flanking Active TSS	Adipose Nuclei	Adipose

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