Variant report

Variant	rs59005988
Chromosome Location	chr17:33825222-33825223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:33825222-33825404	GM12878	blood:	n/a	n/a
2	SUZ12	chr17:33825121-33826201	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr17:33824872-33825410	GM12878	blood:	n/a	chr17:33825193-33825202 chr17:33825126-33825138

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:33825172-33825222	PANC-1	pancreas:	n/a
2	chr17:33825172-33825222	AoSMC	blood vessel:	n/a
3	chr17:33825172-33825222	T-47D	breast:	n/a
4	chr17:33825172-33825222	MCF10A-Er-Src	breast:	n/a
5	chr17:33825172-33825222	AG09309	skin:	n/a
6	chr17:33825172-33825222	NH-A	brain:	n/a
7	chr17:33825172-33825222	PFSK-1	brain:	n/a
8	chr17:33825172-33825222	HepG2	liver:	n/a
9	chr17:33825172-33825222	HCF	heart:	n/a
10	chr17:33825172-33825222	RPTEC	kidney:	n/a
11	chr17:33825172-33825222	HIPEpiC	eye:	n/a
12	chr17:33825172-33825222	ECC-1	luminal epithelium:	n/a
13	chr17:33825172-33825222	HRE	kidney:	n/a
14	chr17:33825172-33825222	HL-60	blood:	n/a
15	chr17:33825172-33825222	NB4	blood:	n/a
16	chr17:33825172-33825222	HRCEpiC	kidney:	n/a
17	chr17:33825172-33825222	HUVEC	blood vessel:	n/a
18	chr17:33825172-33825222	AG04450	lung:	fetal
19	chr17:33825172-33825222	GM12878	blood:	n/a
20	chr17:33825172-33825222	U87	brain:	n/a
21	chr17:33825172-33825222	GM12891	blood:	n/a
22	chr17:33825172-33825222	AG09319	gingival:	n/a
23	chr17:33825172-33825222	K562	blood:	n/a
24	chr17:33825172-33825222	HEEpiC	esophagus:	n/a
25	chr17:33825172-33825222	CMK	blood:	n/a
26	chr17:33825172-33825222	ProgFib	skin:	n/a
27	chr17:33825172-33825222	SK-N-SH	brain:	n/a
28	chr17:33825172-33825222	NHDF-neo	bronchial:	n/a
29	chr17:33825172-33825222	Hela-S3	cervix:	n/a
30	chr17:33825172-33825222	GM19239	blood:	n/a
31	chr17:33825172-33825222	HNPCEpiC	eye:	n/a
32	chr17:33825172-33825222	NHBE	bronchial:	n/a
33	chr17:33825172-33825222	BE2_C	brain:	n/a
34	chr17:33825172-33825222	Jurkat	blood:	n/a
35	chr17:33825172-33825222	SK-N-SH_RA	brain:	n/a
36	chr17:33825172-33825222	HMEC	breast:	n/a
37	chr17:33825172-33825222	IMR90	lung:	fetal
38	chr17:33825172-33825222	SK-N-MC	brain:	n/a
39	chr17:33825172-33825222	LNCaP	prostate:	n/a
40	chr17:33825172-33825222	MCF-7	breast:	n/a
41	chr17:33825172-33825222	AG10803	skin:	n/a
42	chr17:33825172-33825222	HPAEpiC	pulmonary alveolar:	n/a
43	chr17:33825172-33825222	BJ	skin:	n/a
44	chr17:33825172-33825222	SAEC	small airway:	n/a
45	chr17:33825172-33825222	ovcar-3	ovarian:	n/a
46	chr17:33825172-33825222	HCM	heart:	n/a
47	chr17:33825172-33825222	GM12892	blood:	n/a
48	chr17:33825172-33825222	H1-hESC	embryonic stem cell:	embryo
49	chr17:33825172-33825222	Hepatocyte	liver:	n/a
50	chr17:33825172-33825222	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
ENSG00000267369	TF binding region
ENSG00000267369	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56101728	1.00[AMR][1000 genomes]
rs56118006	1.00[AMR][1000 genomes]
rs56215540	0.92[AFR][1000 genomes]
rs57784242	0.82[AFR][1000 genomes]
rs58238174	0.81[AFR][1000 genomes]
rs59474125	0.88[AFR][1000 genomes]
rs60849950	0.88[AFR][1000 genomes]
rs61285114	1.00[AMR][1000 genomes]
rs73989732	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73992829	0.88[AFR][1000 genomes]
rs73992830	0.84[AFR][1000 genomes]
rs73992831	1.00[AMR][1000 genomes]
rs73992847	1.00[AMR][1000 genomes]
rs73992850	1.00[AMR][1000 genomes]
rs73992855	1.00[AMR][1000 genomes]
rs73992856	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33815800-33826000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:33816000-33826400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:33822200-33826600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:33823000-33826200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr17:33823000-33830400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:33823400-33825600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:33823400-33828200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr17:33823400-33835600	Weak transcription	GM12878-XiMat	blood
9	chr17:33823800-33828600	Weak transcription	Pancreas	Pancrea
10	chr17:33824200-33825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:33824200-33825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:33824200-33826000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:33824200-33827200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr17:33824200-33834800	Weak transcription	Spleen	Spleen
15	chr17:33824400-33827600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr17:33824600-33825800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr17:33824800-33825600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr17:33824800-33825600	Active TSS	Right Atrium	heart
19	chr17:33824800-33825600	Bivalent Enhancer	HUVEC	blood vessel
20	chr17:33824800-33826200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr17:33824800-33826800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr17:33824800-33829000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:33825000-33825400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr17:33825000-33825400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
25	chr17:33825000-33825400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:33825000-33825400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:33825000-33825400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:33825000-33825400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:33825000-33825400	Bivalent Enhancer	Aorta	Aorta
30	chr17:33825000-33825400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr17:33825000-33825400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr17:33825000-33825400	Bivalent Enhancer	Placenta	Placenta
33	chr17:33825000-33825400	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr17:33825000-33825400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr17:33825000-33825600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr17:33825000-33825600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:33825000-33825600	Bivalent Enhancer	Brain Hippocampus Middle	brain
38	chr17:33825000-33825600	Bivalent Enhancer	Right Ventricle	heart
39	chr17:33825000-33825800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr17:33825000-33826200	Bivalent Enhancer	Fetal Stomach	stomach
41	chr17:33825000-33828800	Strong transcription	Dnd41	blood
42	chr17:33825200-33825400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr17:33825200-33825400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:33825200-33825400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr17:33825200-33825400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:33825200-33825400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:33825200-33825400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:33825200-33825400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
49	chr17:33825200-33825400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr17:33825200-33825400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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