Variant report

Variant	rs55865694
Chromosome Location	chr17:16120362-16120363
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:490)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr17:16120195-16120796	GM12891	blood:	n/a	n/a
2	RELA	chr17:16120190-16120850	GM19099	blood:	n/a	n/a
3	POLR2A	chr17:16120133-16120852	K562	blood:	n/a	n/a
4	EP300	chr17:16120214-16120725	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:16120192-16120920	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr17:16120304-16120610	SK-N-SH_RA	brain:	n/a	n/a
7	HCFC1	chr17:16120173-16120888	K562	blood:	n/a	n/a
8	FOXP2	chr17:16120306-16120677	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr17:16120187-16120818	K562	blood:	n/a	n/a
10	YY1	chr17:16120293-16120665	HCT-116	colon:	n/a	n/a
11	MAX	chr17:16120314-16120740	HepG2	liver:	n/a	n/a
12	ZEB1	chr17:16120362-16121042	GM12878	blood:	n/a	n/a
13	ELK1	chr17:16120286-16120950	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr17:16120082-16120829	HepG2	liver:	n/a	n/a
15	NR2C2	chr17:16120284-16120737	Hela-S3	cervix:	n/a	chr17:16120491-16120500
16	MXI1	chr17:16120256-16120675	K562	blood:	n/a	n/a
17	TAF1	chr17:16120239-16120817	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr17:16120205-16120749	GM12891	blood:	n/a	n/a
19	SIN3AK20	chr17:16120141-16120927	A549	lung:	n/a	n/a
20	POLR2A	chr17:16120173-16120856	HUVEC	blood vessel:	n/a	n/a
21	BRCA1	chr17:16120357-16120650	HepG2	liver:	n/a	n/a
22	POLR2A	chr17:16120249-16120811	A549	lung:	n/a	n/a
23	SETDB1	chr17:16120279-16120770	U2OS	brain:	n/a	n/a
24	E2F6	chr17:16120104-16120833	A549	lung:	n/a	n/a
25	SRF	chr17:16120254-16120770	ECC-1	luminal epithelium:	n/a	n/a
26	POU2F2	chr17:16120258-16120813	GM12891	blood:	n/a	n/a
27	BRCA1	chr17:16120323-16120665	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr17:16120339-16120648	GM12878	blood:	n/a	n/a
29	MYC	chr17:16120339-16120591	Hela-S3	cervix:	n/a	n/a
30	FOXA2	chr17:16120282-16120664	HepG2	liver:	n/a	n/a
31	YY1	chr17:16120310-16120994	HepG2	liver:	n/a	n/a
32	ELF1	chr17:16120306-16120862	GM12878	blood:	n/a	n/a
33	POLR2A	chr17:16120078-16121167	GM12892	blood:	n/a	n/a
34	CUX1	chr17:16120302-16120862	GM12878	blood:	n/a	n/a
35	MAZ	chr17:16120240-16120911	Hela-S3	cervix:	n/a	n/a
36	MYC	chr17:16120075-16121242	A549	lung:	n/a	n/a
37	RELA	chr17:16120160-16120727	GM18526	blood:	n/a	n/a
38	PML	chr17:16120167-16120874	K562	blood:	n/a	n/a
39	NRF1	chr17:16120240-16120821	GM12878	blood:	n/a	chr17:16120512-16120523
40	TAF1	chr17:16120189-16121084	ECC-1	luminal epithelium:	n/a	n/a
41	MEF2A	chr17:16120217-16120719	GM12878	blood:	n/a	n/a
42	YY1	chr17:16120114-16121107	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr17:16120300-16121084	H1-hESC	embryonic stem cell:	n/a	n/a
44	GABPA	chr17:16120235-16120674	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr17:16120092-16120884	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr17:16120205-16120811	U87	brain:	n/a	n/a
47	MXI1	chr17:16120248-16121040	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr17:16118196-16121759	PFSK-1	brain:	n/a	n/a
49	PAX5	chr17:16120175-16120696	GM12878	blood:	n/a	n/a
50	RELA	chr17:16120247-16120930	GM10847	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16117555..16120555-chr17:16284027..16286497,3	K562	blood:
2	chr17:16118917..16121426-chr17:16341120..16343503,3	MCF-7	breast:
3	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
4	chr17:16118435..16121280-chr8:145831040..145833997,2	MCF-7	breast:
5	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
6	chr17:16117937..16120860-chr17:16340907..16344654,4	K562	blood:
7	chr17:16117769..16122024-chr17:16284027..16287393,3	K562	blood:
8	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
9	chr17:16117875..16121026-chr17:16318413..16323261,4	K562	blood:

No data

Variant related genes	Relation type
PIGL	TF binding region
NCOR1	TF binding region
ENSG00000175061	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000265401	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000147799	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55867719	1.00[AFR][1000 genomes]
rs56326109	1.00[AFR][1000 genomes]
rs58332409	0.86[AFR][1000 genomes]
rs60619976	1.00[AFR][1000 genomes]
rs61218628	1.00[AFR][1000 genomes]
rs61477293	1.00[AFR][1000 genomes]
rs61499720	1.00[AFR][1000 genomes]
rs73978819	1.00[AFR][1000 genomes]
rs73978824	1.00[AFR][1000 genomes]
rs73981434	1.00[AFR][1000 genomes]
rs73981437	1.00[AFR][1000 genomes]
rs73981446	0.86[AFR][1000 genomes]
rs73981457	0.86[AFR][1000 genomes]
rs73981469	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16116600-16121400	Active TSS	Psoas Muscle	Psoas
2	chr17:16116800-16120800	Active TSS	Brain Angular Gyrus	brain
3	chr17:16116800-16121800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:16116800-16121800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr17:16116800-16122000	Active TSS	K562	blood
6	chr17:16117000-16121200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr17:16117000-16121400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr17:16117000-16121400	Active TSS	Aorta	Aorta
9	chr17:16117000-16121600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:16117000-16121600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:16117000-16121600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr17:16117000-16121600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr17:16117200-16121200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:16117200-16121400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr17:16117200-16121400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:16117200-16121800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr17:16117400-16121400	Active TSS	Ovary	ovary
18	chr17:16117400-16121400	Active TSS	HSMM	muscle
19	chr17:16117400-16121600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr17:16117400-16121800	Active TSS	Fetal Kidney	kidney
21	chr17:16117600-16120800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:16117600-16121000	Active TSS	Colon Smooth Muscle	Colon
23	chr17:16117600-16121000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr17:16117600-16121400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr17:16117800-16121400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:16117800-16121800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr17:16118000-16120800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:16118000-16121200	Active TSS	Brain Substantia Nigra	brain
29	chr17:16118000-16121200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr17:16119200-16120400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr17:16119200-16120400	Flanking Active TSS	Dnd41	blood
32	chr17:16119200-16120400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr17:16119200-16120800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr17:16119200-16121200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr17:16119200-16121200	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr17:16119200-16121400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr17:16119200-16121600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:16119200-16121600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:16119200-16121800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr17:16119400-16120400	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr17:16119400-16121400	Bivalent/Poised TSS	HepG2	liver
42	chr17:16119600-16120400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr17:16119600-16120400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:16119600-16120400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:16119600-16120600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:16119600-16121000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr17:16119600-16121400	Active TSS	Right Atrium	heart
48	chr17:16119600-16121800	Active TSS	HMEC	breast
49	chr17:16119800-16120400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:16119800-16120400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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