Variant report

Variant	rs72833479
Chromosome Location	chr17:45960449-45960450
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	NR3C1	chr17:45960439-45961056	A549	lung:	n/a	chr17:45960763-45960789 chr17:45960768-45960784 chr17:45960767-45960785 chr17:45960763-45960789 chr17:45960777-45960786 chr17:45960763-45960789 chr17:45960763-45960789 chr17:45960769-45960783 chr17:45960769-45960783 chr17:45960792-45960806 chr17:45960768-45960784

No.	Distal block	Cell Line	Cell type
1	chr17:45960153..45962161-chr17:45965804..45967901,2	K562	blood:
2	chr17:45958143..45959731-chr17:45960109..45961631,2	MCF-7	breast:
3	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:
4	chr17:45959646..45962824-chr17:45972724..45975938,3	K562	blood:
5	chr17:45920242..45924382-chr17:45959879..45966158,9	MCF-7	breast:
6	chr17:45959646..45961170-chr17:45972984..45974723,2	K562	blood:
7	chr17:45960015..45962438-chr17:45993771..45995735,2	MCF-7	breast:
8	chr17:45950457..45952482-chr17:45959947..45962257,2	K562	blood:
9	chr17:45955819..45958170-chr17:45960377..45962855,3	K562	blood:
10	chr17:45959973..45962881-chr17:45970750..45975397,6	MCF-7	breast:
11	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:
12	chr17:45954484..45959209-chr17:45960047..45963266,6	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56104550	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61463979	0.88[AFR][1000 genomes]
rs72833468	1.00[ASN][1000 genomes]
rs72833470	0.81[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
2	chr17:45956400-45961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:45956400-45961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:45956400-45962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:45956600-45961200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:45956600-45961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:45956600-45961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:45956600-45962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:45956800-45961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:45957600-45964200	Enhancers	Fetal Intestine Small	intestine
11	chr17:45958000-45962200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr17:45958200-45964400	Enhancers	Placenta	Placenta
13	chr17:45958400-45963000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr17:45958600-45961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45959000-45961400	Enhancers	Lung	lung
16	chr17:45959000-45963600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:45959200-45961000	Enhancers	Right Ventricle	heart
18	chr17:45959200-45961200	Enhancers	Spleen	Spleen
19	chr17:45959200-45963800	Enhancers	Fetal Thymus	thymus
20	chr17:45959400-45962200	Enhancers	Fetal Kidney	kidney
21	chr17:45959400-45963400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr17:45959600-45960600	Weak transcription	K562	blood
23	chr17:45959600-45961000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:45959600-45961000	Enhancers	Esophagus	oesophagus
25	chr17:45959600-45962400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr17:45959600-45962600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr17:45959600-45963000	Enhancers	Fetal Lung	lung
28	chr17:45959600-45963200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr17:45959600-45963600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr17:45959600-45963600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr17:45959800-45960600	Weak transcription	Small Intestine	intestine
32	chr17:45959800-45961000	Enhancers	Right Atrium	heart
33	chr17:45959800-45962600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:45959800-45963200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr17:45959800-45963400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr17:45959800-45963400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr17:45960000-45960600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:45960000-45960800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:45960000-45960800	Enhancers	Pancreas	Pancrea
40	chr17:45960000-45962400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:45960000-45962800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:45960000-45963200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:45960000-45963200	Enhancers	Stomach Mucosa	stomach
44	chr17:45960000-45971800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:45960000-45972200	Weak transcription	HUVEC	blood vessel
46	chr17:45960200-45960600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:45960200-45960800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr17:45960200-45961000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr17:45960200-45961200	Enhancers	Left Ventricle	heart
50	chr17:45960200-45961800	Weak transcription	NHEK	skin

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