Variant report

Variant	rs7222589
Chromosome Location	chr17:18060875-18060876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr17:18060612-18061036	HL-60	blood:	n/a	n/a
2	BHLHE40	chr17:18060716-18060954	GM12878	blood:	n/a	n/a
3	ZNF143	chr17:18060685-18061008	GM12878	blood:	n/a	n/a
4	STAT3	chr17:18060691-18061059	GM12878	blood:	n/a	n/a
5	RCOR1	chr17:18060748-18060943	K562	blood:	n/a	n/a
6	TBL1XR1	chr17:18060726-18061015	GM12878	blood:	n/a	n/a
7	CHD1	chr17:18060819-18061019	GM12878	blood:	n/a	n/a
8	SPI1	chr17:18060718-18060920	GM12878	blood:	n/a	n/a
9	SPI1	chr17:18060669-18060920	K562	blood:	n/a	n/a
10	MAX	chr17:18060771-18060954	GM12878	blood:	n/a	n/a
11	EBF1	chr17:18060572-18060975	GM12878	blood:	n/a	n/a
12	SPI1	chr17:18060434-18061200	GM12878	blood:	n/a	n/a
13	SPI1	chr17:18060597-18061100	GM12891	blood:	n/a	n/a
14	SPI1	chr17:18060631-18061010	GM12878	blood:	n/a	n/a
15	CBX3	chr17:18060668-18061065	K562	blood:	n/a	n/a
16	MAZ	chr17:18060718-18061072	GM12878	blood:	n/a	n/a
17	RCOR1	chr17:18060774-18061564	GM12878	blood:	n/a	n/a
18	EP300	chr17:18060614-18060983	GM12878	blood:	n/a	n/a
19	ZNF143	chr17:18060859-18060965	K562	blood:	n/a	n/a
20	ZMIZ1	chr17:18060740-18060982	K562	blood:	n/a	n/a
21	MTA3	chr17:18060437-18061042	GM12878	blood:	n/a	n/a
22	USF2	chr17:18060619-18060899	GM12878	blood:	n/a	n/a
23	SPI1	chr17:18060579-18061050	GM12891	blood:	n/a	n/a
24	SPI1	chr17:18060719-18060916	K562	blood:	n/a	n/a
25	REST	chr17:18060727-18060878	Hela-S3	cervix:	n/a	n/a
26	SMC3	chr17:18060815-18061012	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18059406..18063498-chr17:18086302..18089651,4	K562	blood:
2	chr17:18041836..18044896-chr17:18058231..18061380,3	K562	blood:
3	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
4	chr17:18054836..18057146-chr17:18057563..18061410,3	MCF-7	breast:
5	chr17:18059834..18062065-chr17:18216789..18219409,3	MCF-7	breast:
6	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
7	chr17:18057330..18058891-chr17:18059852..18061611,2	MCF-7	breast:
8	chr17:18055989..18058847-chr17:18059352..18061809,2	K562	blood:
9	chr17:18059602..18061497-chr17:18162404..18165342,2	MCF-7	breast:
10	chr17:18034463..18036913-chr17:18059459..18061391,2	MCF-7	breast:
11	chr17:18058869..18061487-chr17:18085234..18087160,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYO15A	TF binding region
ENSG00000266677	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000176994	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1128069	1.00[AMR][1000 genomes]
rs11540888	1.00[ASN][1000 genomes]
rs16961058	1.00[ASN][1000 genomes]
rs16961112	1.00[ASN][1000 genomes]
rs2125154	1.00[ASN][1000 genomes]
rs28671051	1.00[ASN][1000 genomes]
rs34607655	1.00[AMR][1000 genomes]
rs4924848	1.00[ASN][1000 genomes]
rs4925170	1.00[ASN][1000 genomes]
rs4925173	1.00[ASN][1000 genomes]
rs4925175	1.00[ASN][1000 genomes]
rs4925180	1.00[ASN][1000 genomes]
rs55973639	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61753153	1.00[ASN][1000 genomes]
rs6502648	1.00[ASN][1000 genomes]
rs7215491	1.00[ASN][1000 genomes]
rs73291866	1.00[AMR][1000 genomes]
rs73980813	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73980819	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73980849	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73980856	1.00[ASN][1000 genomes]
rs73980857	1.00[ASN][1000 genomes]
rs8074858	1.00[ASN][1000 genomes]
rs8080285	1.00[ASN][1000 genomes]
rs8082574	1.00[ASN][1000 genomes]
rs9893254	1.00[ASN][1000 genomes]
rs9894005	1.00[ASN][1000 genomes]
rs9894616	1.00[ASN][1000 genomes]
rs9902011	1.00[ASN][1000 genomes]
rs9902498	1.00[ASN][1000 genomes]
rs9903762	1.00[ASN][1000 genomes]
rs9913916	1.00[ASN][1000 genomes]
rs9915858	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18057200-18061400	Weak transcription	Primary T cells from cord blood	blood
2	chr17:18057400-18061000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:18057400-18061200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr17:18057400-18061200	Weak transcription	Small Intestine	intestine
5	chr17:18057400-18061400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:18057400-18061400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:18057600-18061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:18057600-18061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:18057600-18061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:18057600-18061000	Weak transcription	Lung	lung
11	chr17:18057600-18061000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:18057600-18061200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr17:18057600-18061200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:18057600-18061200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:18057600-18061200	Weak transcription	Esophagus	oesophagus
16	chr17:18057600-18061200	Weak transcription	Fetal Intestine Large	intestine
17	chr17:18057600-18061200	Weak transcription	Right Ventricle	heart
18	chr17:18057600-18061400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:18057600-18061400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:18057600-18061400	Weak transcription	Adipose Nuclei	Adipose
21	chr17:18057600-18061400	Weak transcription	Brain Angular Gyrus	brain
22	chr17:18057600-18061400	Weak transcription	Colonic Mucosa	Colon
23	chr17:18057600-18061400	Weak transcription	Fetal Intestine Small	intestine
24	chr17:18057600-18061400	Weak transcription	Left Ventricle	heart
25	chr17:18057600-18061400	Weak transcription	Pancreas	Pancrea
26	chr17:18057600-18061400	Weak transcription	Right Atrium	heart
27	chr17:18057600-18061400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:18057600-18061400	Weak transcription	HUVEC	blood vessel
29	chr17:18057600-18061400	Weak transcription	Osteobl	bone
30	chr17:18057600-18061600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr17:18057600-18061600	Weak transcription	Liver	Liver
32	chr17:18057600-18061600	Weak transcription	Brain Anterior Caudate	brain
33	chr17:18057600-18061600	Weak transcription	Psoas Muscle	Psoas
34	chr17:18057600-18061600	Weak transcription	NH-A	brain
35	chr17:18057600-18061800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr17:18057600-18061800	Weak transcription	NHDF-Ad	bronchial
37	chr17:18057600-18063000	Weak transcription	HSMMtube	muscle
38	chr17:18057800-18061200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:18057800-18061200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr17:18057800-18061200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:18057800-18061200	Weak transcription	Fetal Heart	heart
42	chr17:18057800-18061200	Weak transcription	Ovary	ovary
43	chr17:18057800-18061200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr17:18057800-18061200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:18057800-18061400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr17:18057800-18061400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:18057800-18061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:18057800-18061400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr17:18057800-18061400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr17:18057800-18061400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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