Variant report

Variant	rs7226119
Chromosome Location	chr17:16472586-16472587
allele	A/C
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	POLR2A	chr17:16471895-16472738	MCF-7	breast:	n/a	n/a
2	POLR2A	chr17:16472129-16472749	MCF-7	breast:	n/a	n/a
3	MAZ	chr17:16472407-16472786	GM12878	blood:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
4	E2F6	chr17:16471889-16472781	H1-hESC	embryonic stem cell:	n/a	chr17:16472519-16472528 chr17:16472554-16472563
5	POLR2A	chr17:16472305-16472589	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr17:16471895-16472800	MCF-7	breast:	n/a	n/a
7	RCOR1	chr17:16471143-16472966	IMR90	lung:	n/a	n/a
8	YY1	chr17:16472034-16472813	GM12892	blood:	n/a	chr17:16472318-16472330
9	POLR2A	chr17:16472214-16472618	GM12878	blood:	n/a	n/a
10	MAX	chr17:16471919-16472765	H1-hESC	embryonic stem cell:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
11	MYC	chr17:16472552-16472601	MCF-7	breast:	n/a	n/a
12	E2F6	chr17:16472433-16472618	K562	blood:	n/a	chr17:16472519-16472528 chr17:16472554-16472563
13	POLR2A	chr17:16472131-16472612	U87	brain:	n/a	n/a
14	TAF1	chr17:16472244-16472639	H1-neurons	neurons:	n/a	n/a
15	TCF12	chr17:16471970-16472733	ECC-1	luminal epithelium:	n/a	n/a
16	PML	chr17:16472167-16472703	MCF-7	breast:	n/a	n/a
17	MXI1	chr17:16472452-16472718	H1-hESC	embryonic stem cell:	n/a	chr17:16472611-16472626 chr17:16472609-16472624
18	POLR2A	chr17:16472020-16472725	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr17:16472088-16472694	HUVEC	blood vessel:	n/a	n/a
20	MAZ	chr17:16472465-16472748	K562	blood:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
21	MAX	chr17:16471913-16472745	H1-hESC	embryonic stem cell:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
22	CREB1	chr17:16472203-16472798	A549	lung:	n/a	n/a
23	POLR2A	chr17:16472238-16472669	GM15510	blood:	n/a	n/a
24	YY1	chr17:16471991-16472732	GM12878	blood:	n/a	chr17:16472318-16472330
25	YY1	chr17:16471964-16472670	SK-N-SH	brain:	n/a	chr17:16472318-16472330
26	PML	chr17:16472093-16472654	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:16472193-16472709	Gliobla	brain:	n/a	n/a
28	MAX	chr17:16471667-16472918	A549	lung:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
29	FOXP2	chr17:16472422-16472658	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr17:16472180-16472590	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr17:16471722-16472838	H1-neurons	neurons:	n/a	n/a
32	NR3C1	chr17:16472225-16472634	A549	lung:	n/a	n/a
33	RUNX3	chr17:16472219-16473086	GM12878	blood:	n/a	n/a
34	YY1	chr17:16472106-16472685	H1-hESC	embryonic stem cell:	n/a	chr17:16472318-16472330
35	E2F6	chr17:16471872-16472847	H1-hESC	embryonic stem cell:	n/a	chr17:16472519-16472528 chr17:16472554-16472563
36	TAF1	chr17:16472301-16472645	PFSK-1	brain:	n/a	n/a
37	ELF1	chr17:16471995-16472918	GM12878	blood:	n/a	n/a
38	JUND	chr17:16472201-16472694	A549	lung:	n/a	chr17:16472556-16472565
39	TBL1XR1	chr17:16472409-16472907	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:16472053-16472709	ECC-1	luminal epithelium:	n/a	n/a
41	YY1	chr17:16471968-16472794	ECC-1	luminal epithelium:	n/a	chr17:16472318-16472330
42	RUNX3	chr17:16472250-16473050	GM12878	blood:	n/a	n/a
43	REST	chr17:16471734-16472880	H1-neurons	neurons:	n/a	n/a
44	MXI1	chr17:16472422-16472801	GM12878	blood:	n/a	chr17:16472611-16472626 chr17:16472609-16472624
45	POLR2A	chr17:16472069-16472799	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr17:16472108-16472825	SK-N-SH	brain:	n/a	chr17:16472611-16472620 chr17:16472615-16472624
47	NFYB	chr17:16472368-16472830	GM12878	blood:	n/a	chr17:16472552-16472566 chr17:16472552-16472567 chr17:16472552-16472567
48	YY1	chr17:16472095-16472670	SK-N-SH_RA	brain:	n/a	chr17:16472318-16472330
49	POLR2A	chr17:16472251-16472688	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr17:16472359-16472591	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ZNF287	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11870222	1.00[AMR][1000 genomes]
rs11870805	1.00[AMR][1000 genomes]
rs57260440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58309732	1.00[AMR][1000 genomes]
rs7216278	1.00[AMR][1000 genomes]
rs7218494	1.00[AMR][1000 genomes]
rs8067629	1.00[AMR][1000 genomes]
rs8069948	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr17:16471200-16472600	Active TSS	Fetal Kidney	kidney
2	chr17:16471200-16472800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:16471200-16472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:16471200-16473000	Flanking Active TSS	Dnd41	blood
5	chr17:16471600-16472600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:16471600-16472600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:16471600-16472600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:16471600-16472600	Active TSS	Fetal Muscle Trunk	muscle
9	chr17:16471600-16472800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr17:16471600-16472800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr17:16471600-16472800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr17:16471600-16472800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:16471600-16472800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr17:16471600-16472800	Active TSS	Psoas Muscle	Psoas
15	chr17:16471600-16472800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr17:16471600-16472800	Active TSS	HSMMtube	muscle
17	chr17:16471600-16473000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr17:16471600-16473000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr17:16471600-16473600	Flanking Active TSS	GM12878-XiMat	blood
20	chr17:16471800-16472600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr17:16471800-16472600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:16471800-16472600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr17:16471800-16472600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:16471800-16472600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr17:16471800-16472600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr17:16471800-16472600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:16471800-16472600	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr17:16471800-16472600	Active TSS	Aorta	Aorta
29	chr17:16471800-16472600	Active TSS	Colon Smooth Muscle	Colon
30	chr17:16471800-16472600	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr17:16471800-16472600	Active TSS	Fetal Stomach	stomach
32	chr17:16471800-16472600	Active TSS	Left Ventricle	heart
33	chr17:16471800-16472600	Flanking Active TSS	Pancreas	Pancrea
34	chr17:16471800-16472600	Flanking Active TSS	Spleen	Spleen
35	chr17:16471800-16472600	Active TSS	NHDF-Ad	bronchial
36	chr17:16471800-16472800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:16471800-16472800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr17:16471800-16472800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:16471800-16472800	Active TSS	Right Atrium	heart
40	chr17:16471800-16473000	Active TSS	Brain Angular Gyrus	brain
41	chr17:16471800-16473000	Active TSS	Brain Substantia Nigra	brain
42	chr17:16471800-16473200	Active TSS	Brain Anterior Caudate	brain
43	chr17:16471800-16473200	Active TSS	Brain Germinal Matrix	brain
44	chr17:16471800-16473200	Active TSS	Fetal Brain Female	brain
45	chr17:16471800-16473400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr17:16472000-16472600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:16472000-16472600	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr17:16472000-16472600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr17:16472000-16472600	Active TSS	Fetal Intestine Small	intestine
50	chr17:16472000-16472600	Active TSS	Stomach Mucosa	stomach

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