Variant report

Variant	rs28372800
Chromosome Location	chr17:16119247-16119248
allele	C/G
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	TAF1	chr17:16118150-16119403	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr17:16118520-16119278	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:16117776-16119427	MCF10A-Er-Src	breast:	n/a	n/a
4	RUNX3	chr17:16118021-16119665	GM12878	blood:	n/a	n/a
5	TAF1	chr17:16118149-16119474	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr17:16118838-16119339	GM12892	blood:	n/a	chr17:16118908-16118921
7	TAF1	chr17:16118420-16119355	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr17:16118255-16119485	IMR90	lung:	n/a	n/a
9	UBTF	chr17:16117847-16119828	K562	blood:	n/a	n/a
10	POLR2A	chr17:16118149-16119914	K562	blood:	n/a	n/a
11	POLR2A	chr17:16118087-16119703	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr17:16119200-16119296	GM10248	blood:	n/a	n/a
13	CTCF	chr17:16119196-16119303	GM12878	blood:	n/a	n/a
14	FOXM1	chr17:16118343-16119886	GM12878	blood:	n/a	n/a
15	MAX	chr17:16117698-16119517	Hela-S3	cervix:	n/a	chr17:16119114-16119124
16	HCFC1	chr17:16118024-16119657	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr17:16119180-16119330	AG04450	lung:	n/a	n/a
18	CHD2	chr17:16118790-16119279	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr17:16118137-16119889	A549	lung:	n/a	n/a
20	SIN3AK20	chr17:16118498-16119431	A549	lung:	n/a	n/a
21	MAZ	chr17:16118313-16119387	GM12878	blood:	n/a	chr17:16119114-16119124
22	YY1	chr17:16117951-16119356	ECC-1	luminal epithelium:	n/a	chr17:16118248-16118259 chr17:16119224-16119233 chr17:16119227-16119236 chr17:16118866-16118880 chr17:16118319-16118333
23	HEY1	chr17:16118507-16119734	HepG2	liver:	n/a	chr17:16118890-16118905 chr17:16119113-16119128
24	CTCF	chr17:16119180-16119330	GM12868	blood:	n/a	n/a
25	MAX	chr17:16118581-16119517	MCF-7	breast:	n/a	chr17:16119114-16119124
26	MYC	chr17:16118657-16119726	NB4	blood:	n/a	chr17:16119114-16119124
27	POLR2A	chr17:16118591-16119698	K562	blood:	n/a	n/a
28	MAX	chr17:16118771-16119471	HepG2	liver:	n/a	chr17:16119114-16119124
29	POLR2A	chr17:16118719-16119396	HepG2	liver:	n/a	n/a
30	KAP1	chr17:16118751-16119589	U2OS	brain:	n/a	n/a
31	RELA	chr17:16118598-16119515	GM15510	blood:	n/a	n/a
32	MAX	chr17:16117755-16119848	A549	lung:	n/a	chr17:16119114-16119124
33	MAX	chr17:16118655-16119669	H1-hESC	embryonic stem cell:	n/a	chr17:16119114-16119124
34	RAD21	chr17:16118641-16119531	A549	lung:	n/a	chr17:16119231-16119245 chr17:16118860-16118870
35	TCF3	chr17:16118572-16119288	GM12878	blood:	n/a	n/a
36	YY1	chr17:16118032-16119586	GM12892	blood:	n/a	chr17:16118248-16118259 chr17:16119224-16119233 chr17:16119227-16119236 chr17:16118866-16118880 chr17:16118319-16118333
37	POLR2A	chr17:16118644-16119600	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr17:16118066-16119427	GM12878	blood:	n/a	n/a
39	MAX	chr17:16118504-16119710	H1-hESC	embryonic stem cell:	n/a	chr17:16119114-16119124
40	MAX	chr17:16118696-16119498	A549	lung:	n/a	chr17:16119114-16119124
41	POLR2A	chr17:16118196-16121759	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr17:16118075-16119697	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr17:16119218-16119309	MCF-7	breast:	n/a	n/a
44	POLR2A	chr17:16118215-16119581	A549	lung:	n/a	n/a
45	POLR2A	chr17:16118189-16119695	GM12892	blood:	n/a	n/a
46	POLR2A	chr17:16118104-16119758	MCF-7	breast:	n/a	n/a
47	POLR2A	chr17:16118604-16119622	GM12891	blood:	n/a	n/a
48	YY1	chr17:16118117-16119698	HepG2	liver:	n/a	chr17:16118248-16118259 chr17:16119224-16119233 chr17:16119227-16119236 chr17:16118866-16118880 chr17:16118319-16118333
49	CTCF	chr17:16119164-16119328	GM12891	blood:	n/a	n/a
50	RFX5	chr17:16118795-16119614	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16117555..16120555-chr17:16284027..16286497,3	K562	blood:
2	chr17:16118765..16119327-chr2:190649095..190649706,2	NB4	blood:
3	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
4	chr17:16118623..16119597-chr3:100120034..100120875,2	Hela-S3	cervix:
5	chr17:16118917..16121426-chr17:16341120..16343503,3	MCF-7	breast:
6	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:
7	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
8	chr17:16118549..16119334-chr22:19419377..19419924,2	Hela-S3	cervix:
9	chr17:16118435..16121280-chr8:145831040..145833997,2	MCF-7	breast:
10	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
11	chr17:16117937..16120860-chr17:16340907..16344654,4	K562	blood:
12	chr17:16117769..16122024-chr17:16284027..16287393,3	K562	blood:
13	chr15:60689206..60690030-chr17:16118605..16119334,2	Hela-S3	cervix:
14	chr17:16118752..16119403-chr22:41347099..41347775,2	NB4	blood:
15	chr17:15987048..15989365-chr17:16117375..16120147,2	MCF-7	breast:
16	chr12:14926760..14928352-chr17:16118616..16120352,2	MCF-7	breast:
17	chr1:113497995..113498938-chr17:16118772..16119540,2	Hela-S3	cervix:
18	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
19	chr17:16117875..16121026-chr17:16318413..16323261,4	K562	blood:

Variant related genes	Relation type
NCOR1	TF binding region
PIGL	TF binding region
ENSG00000154174	Chromatin interaction
ENSG00000147799	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000181350	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000206535	Chromatin interaction
ENSG00000233979	Chromatin interaction
ENSG00000265401	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000246705	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000185608	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000100387	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16959542	1.00[EUR][1000 genomes]
rs2013857	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2272775	1.00[ASN][1000 genomes]
rs3112512	0.86[EUR][1000 genomes]
rs3815037	1.00[EUR][1000 genomes]
rs4792725	0.82[ASN][1000 genomes]
rs57283014	0.83[ASN][1000 genomes]
rs59085792	1.00[EUR][1000 genomes]
rs59514662	1.00[AFR][1000 genomes]
rs73281952	0.83[ASN][1000 genomes]
rs73281964	0.83[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	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	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
8	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
9	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
11	nsv112235	chr17:16116824-16120100	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16114800-16119400	Active TSS	GM12878-XiMat	blood
2	chr17:16116200-16119400	Active TSS	HepG2	liver
3	chr17:16116400-16119400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr17:16116600-16121400	Active TSS	Psoas Muscle	Psoas
5	chr17:16116800-16119400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr17:16116800-16119400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:16116800-16119600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:16116800-16120800	Active TSS	Brain Angular Gyrus	brain
9	chr17:16116800-16121800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:16116800-16121800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr17:16116800-16122000	Active TSS	K562	blood
12	chr17:16117000-16119400	Active TSS	Brain Anterior Caudate	brain
13	chr17:16117000-16119400	Active TSS	Fetal Intestine Large	intestine
14	chr17:16117000-16119400	Active TSS	Right Ventricle	heart
15	chr17:16117000-16119400	Active TSS	NHDF-Ad	bronchial
16	chr17:16117000-16120000	Active TSS	HSMMtube	muscle
17	chr17:16117000-16121200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr17:16117000-16121400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr17:16117000-16121400	Active TSS	Aorta	Aorta
20	chr17:16117000-16121600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr17:16117000-16121600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:16117000-16121600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:16117000-16121600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr17:16117200-16119400	Active TSS	A549	lung
25	chr17:16117200-16119400	Active TSS	Hela-S3	cervix
26	chr17:16117200-16119400	Active TSS	NHEK	skin
27	chr17:16117200-16121200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:16117200-16121400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr17:16117200-16121400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:16117200-16121800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr17:16117400-16119400	Active TSS	Fetal Stomach	stomach
32	chr17:16117400-16121400	Active TSS	Ovary	ovary
33	chr17:16117400-16121400	Active TSS	HSMM	muscle
34	chr17:16117400-16121600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr17:16117400-16121800	Active TSS	Fetal Kidney	kidney
36	chr17:16117600-16119400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr17:16117600-16119400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:16117600-16119400	Active TSS	Gastric	stomach
39	chr17:16117600-16119400	Active TSS	Left Ventricle	heart
40	chr17:16117600-16119400	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr17:16117600-16119600	Active TSS	Small Intestine	intestine
42	chr17:16117600-16120800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:16117600-16121000	Active TSS	Colon Smooth Muscle	Colon
44	chr17:16117600-16121000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr17:16117600-16121400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr17:16117800-16119400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:16117800-16119400	Active TSS	Brain Hippocampus Middle	brain
48	chr17:16117800-16121400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:16117800-16121800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr17:16118000-16119400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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