Variant report

Variant	rs4413003
Chromosome Location	chr17:45961829-45961830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr17:45961049-45962378	MCF-7	breast:	n/a	n/a
2	EP300	chr17:45961440-45961962	T-47D	breast:	n/a	chr17:45961679-45961692
3	JUND	chr17:45961346-45962095	MCF-7	breast:	n/a	n/a
4	CEBPB	chr17:45961325-45962070	MCF-7	breast:	n/a	n/a
5	NR2F2	chr17:45961334-45962195	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr17:45961120-45962217	MCF-7	breast:	n/a	n/a
7	GATA3	chr17:45961424-45962046	T-47D	breast:	n/a	n/a
8	TCF7L2	chr17:45961385-45961907	MCF-7	breast:	n/a	chr17:45961565-45961579
9	HDAC2	chr17:45961432-45962186	MCF-7	breast:	n/a	chr17:45961715-45961729 chr17:45961714-45961728 chr17:45961717-45961731 chr17:45961716-45961730
10	ELF1	chr17:45961329-45962183	MCF-7	breast:	n/a	n/a
11	TCF12	chr17:45961179-45962210	MCF-7	breast:	n/a	chr17:45961349-45961359
12	ZNF217	chr17:45961518-45961887	MCF-7	breast:	n/a	n/a
13	EP300	chr17:45961469-45962015	T-47D	breast:	n/a	chr17:45961679-45961692
14	GATA3	chr17:45961284-45962157	MCF-7	breast:	n/a	n/a
15	GATA3	chr17:45961463-45962020	T-47D	breast:	n/a	n/a
16	MAZ	chr17:45961500-45961889	K562	blood:	n/a	n/a
17	NR2F2	chr17:45961280-45962306	MCF-7	breast:	n/a	n/a
18	CTCF	chr17:45961800-45961950	Caco-2	colon:	n/a	n/a
19	TCF7L2	chr17:45961361-45961936	PANC-1	pancreas:	n/a	chr17:45961565-45961579
20	GATA3	chr17:45961208-45962014	MCF-7	breast:	n/a	n/a
21	EGR1	chr17:45961389-45962036	MCF-7	breast:	n/a	chr17:45961421-45961436 chr17:45961816-45961829
22	CEBPB	chr17:45961243-45962146	MCF-7	breast:	n/a	n/a
23	MAX	chr17:45961261-45962085	MCF-7	breast:	n/a	n/a
24	HDAC2	chr17:45961347-45962144	MCF-7	breast:	n/a	chr17:45961715-45961729 chr17:45961714-45961728 chr17:45961717-45961731 chr17:45961716-45961730

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45955663..45958108-chr17:45961130..45962855,2	K562	blood:
2	chr17:45960153..45962161-chr17:45965804..45967901,2	K562	blood:
3	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:
4	chr17:45907336..45909766-chr17:45961019..45963765,2	K562	blood:
5	chr17:45907055..45909766-chr17:45960466..45962519,2	K562	blood:
6	chr17:45959646..45962824-chr17:45972724..45975938,3	K562	blood:
7	chr17:45907369..45910442-chr17:45960677..45964479,4	MCF-7	breast:
8	chr17:45920242..45924382-chr17:45959879..45966158,9	MCF-7	breast:
9	chr17:45952271..45953858-chr17:45960670..45962936,2	MCF-7	breast:
10	chr17:45928961..45933138-chr17:45960892..45963467,3	K562	blood:
11	chr17:45922488..45924994-chr17:45961129..45963501,2	MCF-7	breast:
12	chr17:45960015..45962438-chr17:45993771..45995735,2	MCF-7	breast:
13	chr17:45926244..45929145-chr17:45961186..45965001,5	MCF-7	breast:
14	chr17:45960557..45963296-chr17:46100830..46102768,2	MCF-7	breast:
15	chr17:45960588..45963155-chr17:45965865..45967382,2	MCF-7	breast:
16	chr17:45961070..45963855-chr17:45969315..45972508,3	MCF-7	breast:
17	chr17:45950457..45952482-chr17:45959947..45962257,2	K562	blood:
18	chr17:45955819..45958170-chr17:45960377..45962855,3	K562	blood:
19	chr17:45926557..45929901-chr17:45961355..45964268,4	MCF-7	breast:
20	chr17:45959973..45962881-chr17:45970750..45975397,6	MCF-7	breast:
21	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:
22	chr17:45949537..45952014-chr17:45960659..45962461,3	MCF-7	breast:
23	chr17:45954484..45959209-chr17:45960047..45963266,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266821	TF binding region
ENSG00000264920	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000159111	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1986719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic 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	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
2	chr17:45956400-45962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:45956600-45962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:45957600-45964200	Enhancers	Fetal Intestine Small	intestine
5	chr17:45958000-45962200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr17:45958200-45964400	Enhancers	Placenta	Placenta
7	chr17:45958400-45963000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr17:45959000-45963600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr17:45959200-45963800	Enhancers	Fetal Thymus	thymus
10	chr17:45959400-45962200	Enhancers	Fetal Kidney	kidney
11	chr17:45959400-45963400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr17:45959600-45962400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr17:45959600-45962600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr17:45959600-45963000	Enhancers	Fetal Lung	lung
15	chr17:45959600-45963200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr17:45959600-45963600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr17:45959600-45963600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:45959800-45962600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:45959800-45963200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr17:45959800-45963400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr17:45959800-45963400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:45960000-45962400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:45960000-45962800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:45960000-45963200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:45960000-45963200	Enhancers	Stomach Mucosa	stomach
26	chr17:45960000-45971800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:45960000-45972200	Weak transcription	HUVEC	blood vessel
28	chr17:45960200-45962000	Enhancers	Adipose Nuclei	Adipose
29	chr17:45960200-45962200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:45960200-45962400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:45960200-45962600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr17:45960200-45962600	Weak transcription	HMEC	breast
33	chr17:45960200-45963400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:45960200-45963600	Enhancers	Primary T cells from cord blood	blood
35	chr17:45960200-45964400	Enhancers	Colonic Mucosa	Colon
36	chr17:45960200-45965000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:45960400-45962400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:45960400-45963600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:45960400-45972000	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:45960600-45963600	Enhancers	K562	blood
41	chr17:45960800-45963000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:45960800-45963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr17:45960800-45963600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:45960800-45963600	Enhancers	Thymus	Thymus
45	chr17:45961000-45962200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:45961200-45962200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:45961200-45962800	Weak transcription	Left Ventricle	heart
48	chr17:45961200-45963400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr17:45961400-45962400	Weak transcription	Lung	lung
50	chr17:45961400-45962400	Bivalent Enhancer	HepG2	liver

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