Variant report

Variant	rs2272775
Chromosome Location	chr17:16118951-16118952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:579)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	CTCF	chr17:16118940-16119090	HRE	kidney:	n/a	n/a
3	POLR2A	chr17:16118520-16119278	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:16117776-16119427	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr17:16118900-16119050	Hela-S3	cervix:	n/a	chr17:16118908-16118921
6	TAF1	chr17:16118642-16119154	Hela-S3	cervix:	n/a	n/a
7	YY1	chr17:16118247-16119056	NT2-D1	testis:	n/a	chr17:16118248-16118259 chr17:16118866-16118880 chr17:16118319-16118333
8	CTCF	chr17:16118880-16119030	GM12864	blood:	n/a	chr17:16118908-16118921
9	RUNX3	chr17:16118021-16119665	GM12878	blood:	n/a	n/a
10	NRF1	chr17:16118778-16118975	GM12878	blood:	n/a	n/a
11	TAF1	chr17:16118149-16119474	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr17:16118838-16119339	GM12892	blood:	n/a	chr17:16118908-16118921
13	RAD21	chr17:16118824-16119030	K562	blood:	n/a	chr17:16118860-16118870
14	TAF1	chr17:16118420-16119355	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr17:16118255-16119485	IMR90	lung:	n/a	n/a
16	ETS1	chr17:16118627-16119033	K562	blood:	n/a	n/a
17	CREB1	chr17:16118647-16119075	A549	lung:	n/a	n/a
18	UBTF	chr17:16117847-16119828	K562	blood:	n/a	n/a
19	CTCF	chr17:16118883-16119000	GM10248	blood:	n/a	chr17:16118908-16118921
20	POLR2A	chr17:16118149-16119914	K562	blood:	n/a	n/a
21	CTCF	chr17:16118840-16118990	RPTEC	kidney:	n/a	chr17:16118908-16118921
22	POLR2A	chr17:16118087-16119703	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr17:16118773-16119030	K562	blood:	n/a	chr17:16118908-16118921
24	JUND	chr17:16118681-16119121	K562	blood:	n/a	n/a
25	FOXM1	chr17:16118343-16119886	GM12878	blood:	n/a	n/a
26	MAX	chr17:16117698-16119517	Hela-S3	cervix:	n/a	chr17:16119114-16119124
27	POLR2A	chr17:16118649-16119096	HepG2	liver:	n/a	n/a
28	CTCF	chr17:16118900-16119050	HFF	foreskin:	n/a	chr17:16118908-16118921
29	HCFC1	chr17:16118024-16119657	Hela-S3	cervix:	n/a	n/a
30	TCF7L2	chr17:16118784-16119148	Hela-S3	cervix:	n/a	n/a
31	YY1	chr17:16118010-16119202	H1-hESC	embryonic stem cell:	n/a	chr17:16118248-16118259 chr17:16118866-16118880 chr17:16118319-16118333
32	CHD2	chr17:16118790-16119279	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr17:16118940-16119090	BE2_C	brain:	n/a	n/a
34	POLR2A	chr17:16118137-16119889	A549	lung:	n/a	n/a
35	SIN3AK20	chr17:16118498-16119431	A549	lung:	n/a	n/a
36	MAZ	chr17:16118313-16119387	GM12878	blood:	n/a	chr17:16119114-16119124
37	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
38	HEY1	chr17:16118507-16119734	HepG2	liver:	n/a	chr17:16118890-16118905 chr17:16119113-16119128
39	MAX	chr17:16118581-16119517	MCF-7	breast:	n/a	chr17:16119114-16119124
40	MYC	chr17:16118657-16119726	NB4	blood:	n/a	chr17:16119114-16119124
41	POLR2A	chr17:16118591-16119698	K562	blood:	n/a	n/a
42	MAX	chr17:16118771-16119471	HepG2	liver:	n/a	chr17:16119114-16119124
43	POLR2A	chr17:16118719-16119396	HepG2	liver:	n/a	n/a
44	KAP1	chr17:16118751-16119589	U2OS	brain:	n/a	n/a
45	RELA	chr17:16118598-16119515	GM15510	blood:	n/a	n/a
46	MEF2A	chr17:16118566-16119081	GM12878	blood:	n/a	n/a
47	PAX5	chr17:16118585-16119089	GM12891	blood:	n/a	n/a
48	CTCF	chr17:16118900-16119050	SK-N-SH_RA	brain:	n/a	chr17:16118908-16118921
49	MAX	chr17:16117755-16119848	A549	lung:	n/a	chr17:16119114-16119124
50	CTCF	chr17:16118820-16119040	GM10266	blood:	n/a	chr17:16118908-16118921

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16118919-16118969	PFSK-1	brain:	n/a
2	chr17:16118919-16118969	AG09309	skin:	n/a
3	chr17:16118919-16118969	LNCaP	prostate:	n/a
4	chr17:16118919-16118969	H1-hESC	embryonic stem cell:	embryo
5	chr17:16118919-16118969	NHDF-neo	bronchial:	n/a
6	chr17:16118919-16118969	NH-A	brain:	n/a
7	chr17:16118919-16118969	BJ	skin:	n/a
8	chr17:16118919-16118969	HUVEC	blood vessel:	n/a
9	chr17:16118919-16118969	PrEC	prostate:	n/a
10	chr17:16118919-16118969	GM12892	blood:	n/a
11	chr17:16118919-16118969	HCPEpiC	choroid plexus:	n/a
12	chr17:16118919-16118969	HEK293	kidney:	embryo
13	chr17:16118919-16118969	K562	blood:	n/a
14	chr17:16118919-16118969	GM12878	blood:	n/a
15	chr17:16118919-16118969	IMR90	lung:	fetal
16	chr17:16118919-16118969	HCM	heart:	n/a
17	chr17:16118919-16118969	T-47D	breast:	n/a
18	chr17:16118919-16118969	HPAEpiC	pulmonary alveolar:	n/a
19	chr17:16118919-16118969	HRCEpiC	kidney:	n/a
20	chr17:16118919-16118969	Hela-S3	cervix:	n/a
21	chr17:16118919-16118969	AG10803	skin:	n/a
22	chr17:16118919-16118969	HEEpiC	esophagus:	n/a
23	chr17:16118919-16118969	GM12891	blood:	n/a
24	chr17:16118919-16118969	HMEC	breast:	n/a
25	chr17:16118919-16118969	HNPCEpiC	eye:	n/a
26	chr17:16118919-16118969	Caco-2	colon:	n/a
27	chr17:16118919-16118969	BE2_C	brain:	n/a
28	chr17:16118919-16118969	SKMC	muscle:	n/a
29	chr17:16118919-16118969	GM06990	blood:	n/a
30	chr17:16118919-16118969	ProgFib	skin:	n/a
31	chr17:16118919-16118969	HRE	kidney:	n/a
32	chr17:16118919-16118969	MCF-7	breast:	n/a
33	chr17:16118919-16118969	AG04450	lung:	fetal
34	chr17:16118919-16118969	HL-60	blood:	n/a
35	chr17:16118919-16118969	NT2-D1	testis:	n/a
36	chr17:16118919-16118969	PANC-1	pancreas:	n/a
37	chr17:16118919-16118969	SK-N-MC	brain:	n/a
38	chr17:16118919-16118969	CMK	blood:	n/a
39	chr17:16118919-16118969	MCF10A-Er-Src	breast:	n/a
40	chr17:16118919-16118969	HCT-116	colon:	n/a
41	chr17:16118919-16118969	AG09319	gingival:	n/a
42	chr17:16118919-16118969	GM19239	blood:	n/a
43	chr17:16118919-16118969	NHBE	bronchial:	n/a
44	chr17:16118919-16118969	HAEpiC	amniotic membrane:	n/a
45	chr17:16118919-16118969	HepG2	liver:	n/a
46	chr17:16118919-16118969	RPTEC	kidney:	n/a
47	chr17:16118919-16118969	ECC-1	luminal epithelium:	n/a
48	chr17:16118919-16118969	HIPEpiC	eye:	n/a
49	chr17:16118919-16118969	HCF	heart:	n/a
50	chr17:16118919-16118969	U87	brain:	n/a

(count:22 , 50 per page) page: 1

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	chr17:16118268..16119159-chr8:62627070..62627630,2	Hela-S3	cervix:
4	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
5	chr17:16118623..16119597-chr3:100120034..100120875,2	Hela-S3	cervix:
6	chr17:16118917..16121426-chr17:16341120..16343503,3	MCF-7	breast:
7	chr17:16116365..16119285-chr17:16395133..16397532,2	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	chr1:145382530..145383456-chr17:16118328..16119083,2	Hela-S3	cervix:
14	chr15:60689206..60690030-chr17:16118605..16119334,2	Hela-S3	cervix:
15	chr17:16118752..16119403-chr22:41347099..41347775,2	NB4	blood:
16	chr17:15987048..15989365-chr17:16117375..16120147,2	MCF-7	breast:
17	chr17:16118306..16119162-chr19:36139052..36139638,2	Hela-S3	cervix:
18	chr12:14926760..14928352-chr17:16118616..16120352,2	MCF-7	breast:
19	chr1:113497995..113498938-chr17:16118772..16119540,2	Hela-S3	cervix:
20	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
21	chr17:16117875..16121026-chr17:16318413..16323261,4	K562	blood:
22	chr17:15902955..15905510-chr17:16117213..16119076,2	K562	blood:

No data

Variant related genes	Relation type
NCOR1	TF binding region
PIGL	TF binding region
NCOR1	CpG island
PIGL	CpG island
ENSG00000266651	Chromatin interaction
ENSG00000206535	Chromatin interaction
ENSG00000154174	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000181350	Chromatin interaction
ENSG00000246705	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000264408	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000126267	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000233979	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000185608	Chromatin interaction
ENSG00000100387	Chromatin interaction
ENSG00000147799	Chromatin interaction
ENSG00000265401	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000155380	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28372800	1.00[ASN][1000 genomes]
rs4792725	0.82[ASN][1000 genomes]
rs57283014	0.83[ASN][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	chr17:16116400-16119200	Active TSS	Fetal Intestine Small	intestine
4	chr17:16116400-16119400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr17:16116600-16121400	Active TSS	Psoas Muscle	Psoas
6	chr17:16116800-16119000	Active TSS	Colonic Mucosa	Colon
7	chr17:16116800-16119200	Active TSS	NHLF	lung
8	chr17:16116800-16119400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr17:16116800-16119400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:16116800-16119600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:16116800-16120800	Active TSS	Brain Angular Gyrus	brain
12	chr17:16116800-16121800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:16116800-16121800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr17:16116800-16122000	Active TSS	K562	blood
15	chr17:16117000-16119200	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr17:16117000-16119200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr17:16117000-16119200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:16117000-16119400	Active TSS	Brain Anterior Caudate	brain
19	chr17:16117000-16119400	Active TSS	Fetal Intestine Large	intestine
20	chr17:16117000-16119400	Active TSS	Right Ventricle	heart
21	chr17:16117000-16119400	Active TSS	NHDF-Ad	bronchial
22	chr17:16117000-16120000	Active TSS	HSMMtube	muscle
23	chr17:16117000-16121200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr17:16117000-16121400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr17:16117000-16121400	Active TSS	Aorta	Aorta
26	chr17:16117000-16121600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr17:16117000-16121600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:16117000-16121600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr17:16117000-16121600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr17:16117200-16119000	Active TSS	HMEC	breast
31	chr17:16117200-16119200	Active TSS	Duodenum Mucosa	Duodenum
32	chr17:16117200-16119400	Active TSS	A549	lung
33	chr17:16117200-16119400	Active TSS	Hela-S3	cervix
34	chr17:16117200-16119400	Active TSS	NHEK	skin
35	chr17:16117200-16121200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:16117200-16121400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr17:16117200-16121400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:16117200-16121800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr17:16117400-16119200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:16117400-16119200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:16117400-16119200	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr17:16117400-16119200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr17:16117400-16119400	Active TSS	Fetal Stomach	stomach
44	chr17:16117400-16121400	Active TSS	Ovary	ovary
45	chr17:16117400-16121400	Active TSS	HSMM	muscle
46	chr17:16117400-16121600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr17:16117400-16121800	Active TSS	Fetal Kidney	kidney
48	chr17:16117600-16119000	Active TSS	Pancreas	Pancrea
49	chr17:16117600-16119000	Active TSS	Thymus	Thymus
50	chr17:16117600-16119200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links