Variant report

Variant	rs17022584
Chromosome Location	chr2:99955047-99955048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:99951643-99955117	IMR90	lung:	n/a	n/a
2	MXI1	chr2:99952413-99955150	GM12878	blood:	n/a	n/a
3	MXI1	chr2:99951567-99955221	SK-N-SH	brain:	n/a	n/a
4	E2F4	chr2:99954834-99955384	MCF10A-Er-Src	breast:	n/a	n/a
5	MXI1	chr2:99954417-99955176	K562	blood:	n/a	n/a
6	POLR2A	chr2:99952209-99955132	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr2:99954796-99955198	K562	blood:	n/a	n/a
8	SREBP1	chr2:99951380-99955264	GM12878	blood:	n/a	n/a
9	MXI1	chr2:99954326-99955050	Hela-S3	cervix:	n/a	n/a
10	ZNF384	chr2:99954907-99955139	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:99769128..99773388-chr2:99951603..99955259,4	K562	blood:
2	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
3	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
4	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
5	chr2:99954032..99955953-chr2:99973358..99975557,2	MCF-7	breast:
6	chr2:99796197..99799811-chr2:99951417..99956311,9	MCF-7	breast:
7	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
8	chr2:99769755..99772454-chr2:99953389..99955420,3	K562	blood:
9	chr2:99950906..99955641-chr2:100018668..100021744,4	MCF-7	breast:
10	chr2:99953873..99955383-chr20:52824227..52826110,2	MCF-7	breast:
11	chr2:99796308..99800210-chr2:99949212..99956082,14	MCF-7	breast:

No data

Variant related genes	Relation type
TXNDC9	TF binding region
ENSG00000135945	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000135951	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11542367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022405	0.88[YRI][hapmap]
rs3087387	1.00[EUR][1000 genomes]
rs55720283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093686	0.83[EUR][1000 genomes]
rs61098335	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707685	1.00[EUR][1000 genomes]
rs6723062	1.00[EUR][1000 genomes]
rs73964815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571186	0.80[YRI][hapmap];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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99950400-99956000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:99950800-99955400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:99951000-99955600	Active TSS	HMEC	breast
4	chr2:99951400-99955200	Active TSS	A549	lung
5	chr2:99951400-99955400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:99951400-99955400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:99951400-99956000	Active TSS	K562	blood
8	chr2:99951600-99955200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:99951600-99955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:99951600-99955200	Active TSS	Fetal Intestine Small	intestine
11	chr2:99951600-99955200	Active TSS	Psoas Muscle	Psoas
12	chr2:99951600-99955400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:99951600-99955400	Active TSS	NHLF	lung
14	chr2:99951600-99958200	Active TSS	GM12878-XiMat	blood
15	chr2:99951800-99955200	Active TSS	HSMM	muscle
16	chr2:99951800-99955200	Active TSS	HSMMtube	muscle
17	chr2:99951800-99955400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:99951800-99955400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:99951800-99955400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:99951800-99955400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:99951800-99956000	Active TSS	Right Ventricle	heart
22	chr2:99952000-99955200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:99952000-99955200	Active TSS	Fetal Intestine Large	intestine
24	chr2:99952000-99955400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:99952000-99955400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:99952200-99955200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:99952200-99955200	Active TSS	Fetal Thymus	thymus
28	chr2:99952200-99955200	Active TSS	Stomach Mucosa	stomach
29	chr2:99952200-99955200	Active TSS	Thymus	Thymus
30	chr2:99952200-99955800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:99952400-99955400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr2:99952400-99955600	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr2:99953600-99956000	Active TSS	Hela-S3	cervix
34	chr2:99954000-99955200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:99954000-99955200	Flanking Active TSS	Fetal Brain Female	brain
36	chr2:99954200-99955200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:99954200-99955200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr2:99954400-99955200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr2:99954400-99955200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr2:99954400-99955200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:99954400-99955200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:99954400-99955400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:99954400-99955400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:99954400-99955400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:99954400-99955400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr2:99954400-99956000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:99954600-99955200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:99954600-99955200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:99954600-99955200	Active TSS	Brain Germinal Matrix	brain
50	chr2:99954600-99955200	Flanking Active TSS	Fetal Heart	heart

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