Variant report

Variant	rs73319731
Chromosome Location	chr17:45898392-45898393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr17:45898390-45899398	GM12878	blood:	n/a	n/a
2	CTCF	chr17:45898273-45900544	SK-N-SH	brain:	n/a	chr17:45899669-45899676
3	MXI1	chr17:45897867-45900807	SK-N-SH	brain:	n/a	n/a
4	SMARCB1	chr17:45898253-45899711	Hela-S3	cervix:	n/a	chr17:45899082-45899091

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45897420..45900355-chr17:45972655..45975500,3	MCF-7	breast:
2	chr17:45897077..45901616-chr17:45914627..45919028,8	MCF-7	breast:
3	chr17:45897782..45899976-chr17:46017642..46019403,2	MCF-7	breast:
4	chr17:45895288..45896909-chr17:45896930..45899008,3	MCF-7	breast:
5	chr17:45895199..45899793-chr17:45971655..45976847,6	K562	blood:
6	chr17:45886192..45893448-chr17:45896148..45900071,14	MCF-7	breast:
7	chr17:45897542..45899776-chr17:45916869..45918658,2	MCF-7	breast:
8	chr17:45894310..45903569-chr17:45906761..45911816,14	MCF-7	breast:

No data

Variant related genes	Relation type
OSBPL7	TF binding region
ENSG00000108439	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000234494	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000264920	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73319718	1.00[AMR][1000 genomes]
rs73319787	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	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	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45882600-45898600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45884000-45898400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:45884800-45898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:45887000-45898400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:45889600-45898400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:45892000-45898400	Weak transcription	NHLF	lung
7	chr17:45894600-45898400	Weak transcription	Osteobl	bone
8	chr17:45896400-45901000	Weak transcription	Aorta	Aorta
9	chr17:45896600-45898400	Weak transcription	Psoas Muscle	Psoas
10	chr17:45897000-45898400	Enhancers	Placenta	Placenta
11	chr17:45897000-45898400	Enhancers	Lung	lung
12	chr17:45897400-45898400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:45897400-45898400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr17:45897400-45898400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:45897400-45898400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:45897400-45898400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:45897400-45898400	Enhancers	Left Ventricle	heart
18	chr17:45897400-45898600	Enhancers	Esophagus	oesophagus
19	chr17:45897400-45898800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr17:45897400-45898800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr17:45897400-45898800	Flanking Active TSS	Dnd41	blood
22	chr17:45897400-45898800	Flanking Active TSS	Hela-S3	cervix
23	chr17:45897400-45899400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:45897400-45899400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:45897400-45899800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr17:45897400-45900000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr17:45897600-45898400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr17:45897600-45898400	Enhancers	Right Atrium	heart
29	chr17:45897600-45898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:45897600-45898400	Enhancers	HUVEC	blood vessel
31	chr17:45897600-45898600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:45897800-45898400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:45897800-45898400	Enhancers	Primary B cells from peripheral blood	blood
34	chr17:45897800-45898400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:45897800-45898400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr17:45897800-45898400	Enhancers	Adipose Nuclei	Adipose
37	chr17:45897800-45898400	Enhancers	Ovary	ovary
38	chr17:45897800-45898400	Enhancers	Spleen	Spleen
39	chr17:45897800-45898400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr17:45897800-45898600	Enhancers	Liver	Liver
41	chr17:45897800-45898800	Flanking Active TSS	Colonic Mucosa	Colon
42	chr17:45897800-45898800	Enhancers	Fetal Brain Male	brain
43	chr17:45897800-45899000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:45897800-45899000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr17:45897800-45899400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr17:45897800-45899400	Active TSS	Stomach Mucosa	stomach
47	chr17:45897800-45899600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr17:45897800-45899600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr17:45897800-45899800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr17:45897800-45899800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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