Variant report

Variant	rs66878360
Chromosome Location	chr17:33866337-33866338
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr17:33866258-33866779	A549	lung:	n/a	n/a
2	RAD21	chr17:33866321-33866774	MCF-7	breast:	n/a	n/a
3	BRCA1	chr17:33866093-33866678	GM12878	blood:	n/a	n/a
4	RAD21	chr17:33866297-33866697	H1-hESC	embryonic stem cell:	n/a	n/a
5	SMC3	chr17:33865970-33867029	SK-N-SH	brain:	n/a	n/a
6	ZBTB33	chr17:33865995-33866485	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:33866132-33866658	GM12878	blood:	n/a	n/a
8	ZNF384	chr17:33866162-33866679	GM12878	blood:	n/a	n/a
9	CTCF	chr17:33866331-33866754	K562	blood:	n/a	n/a
10	FOXM1	chr17:33866334-33866828	GM12878	blood:	n/a	n/a
11	NFIC	chr17:33866204-33866768	GM12878	blood:	n/a	n/a
12	MYC	chr17:33866337-33866760	K562	blood:	n/a	n/a
13	CTCF	chr17:33866214-33867398	A549	lung:	n/a	n/a
14	GATA3	chr17:33866313-33866694	T-47D	breast:	n/a	n/a
15	CTCF	chr17:33866279-33866934	HCT-116	colon:	n/a	n/a
16	RUNX3	chr17:33866316-33866743	GM12878	blood:	n/a	n/a
17	CHD2	chr17:33866048-33866609	K562	blood:	n/a	n/a
18	BCLAF1	chr17:33866198-33866773	GM12878	blood:	n/a	n/a
19	CHD2	chr17:33866050-33866761	GM12878	blood:	n/a	n/a
20	BHLHE40	chr17:33866273-33866732	GM12878	blood:	n/a	n/a
21	RUNX3	chr17:33865936-33866794	GM12878	blood:	n/a	n/a
22	RAD21	chr17:33866232-33866901	A549	lung:	n/a	n/a
23	CTCF	chr17:33866234-33867117	SK-N-SH	brain:	n/a	n/a
24	BCLAF1	chr17:33866308-33866762	GM12878	blood:	n/a	n/a
25	RAD21	chr17:33866178-33866969	SK-N-SH	brain:	n/a	n/a
26	STAT5A	chr17:33866202-33866814	GM12878	blood:	n/a	n/a
27	RAD21	chr17:33866285-33866718	H1-hESC	embryonic stem cell:	n/a	n/a
28	RCOR1	chr17:33866044-33866764	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:33865982-33866739	GM12892	blood:	n/a	n/a
30	MAZ	chr17:33866130-33866705	GM12878	blood:	n/a	n/a
31	CHD1	chr17:33866315-33866900	IMR90	lung:	n/a	n/a
32	ZBTB33	chr17:33866042-33866469	GM12878	blood:	n/a	n/a
33	MXI1	chr17:33865906-33866720	GM12878	blood:	n/a	n/a
34	SMC3	chr17:33866324-33866961	GM12878	blood:	n/a	n/a
35	GATA1	chr17:33866283-33867479	PBDE	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:33866301-33866351	U87	brain:	n/a
2	chr17:33866301-33866351	HRPEpiC	eye:	n/a
3	chr17:33866301-33866351	ECC-1	luminal epithelium:	n/a
4	chr17:33866301-33866351	BJ	skin:	n/a
5	chr17:33866301-33866351	HEK293	kidney:	embryo
6	chr17:33866301-33866351	AG04449	skin:	fetal
7	chr17:33866301-33866351	A549	lung:	n/a
8	chr17:33866301-33866351	SK-N-SH_RA	brain:	n/a
9	chr17:33866301-33866351	SK-N-SH	brain:	n/a
10	chr17:33866301-33866351	HL-60	blood:	n/a
11	chr17:33866301-33866351	HNPCEpiC	eye:	n/a
12	chr17:33866301-33866351	ProgFib	skin:	n/a
13	chr17:33866301-33866351	AG04450	lung:	fetal
14	chr17:33866301-33866351	HPAEpiC	pulmonary alveolar:	n/a
15	chr17:33866301-33866351	HIPEpiC	eye:	n/a
16	chr17:33866301-33866351	Hepatocyte	liver:	n/a
17	chr17:33866301-33866351	HCPEpiC	choroid plexus:	n/a
18	chr17:33866301-33866351	PrEC	prostate:	n/a
19	chr17:33866301-33866351	HEEpiC	esophagus:	n/a
20	chr17:33866301-33866351	GM19239	blood:	n/a
21	chr17:33866301-33866351	AoSMC	blood vessel:	n/a
22	chr17:33866301-33866351	AG09309	skin:	n/a
23	chr17:33866301-33866351	GM06990	blood:	n/a
24	chr17:33866301-33866351	HCT-116	colon:	n/a
25	chr17:33866301-33866351	AG10803	skin:	n/a
26	chr17:33866301-33866351	NHDF-neo	bronchial:	n/a
27	chr17:33866301-33866351	CMK	blood:	n/a
28	chr17:33866301-33866351	HMEC	breast:	n/a
29	chr17:33866301-33866351	NH-A	brain:	n/a
30	chr17:33866301-33866351	HUVEC	blood vessel:	n/a
31	chr17:33866301-33866351	PFSK-1	brain:	n/a
32	chr17:33866301-33866351	SK-N-MC	brain:	n/a
33	chr17:33866301-33866351	GM12891	blood:	n/a
34	chr17:33866301-33866351	NB4	blood:	n/a
35	chr17:33866301-33866351	GM12892	blood:	n/a
36	chr17:33866301-33866351	HRCEpiC	kidney:	n/a
37	chr17:33866301-33866351	H1-hESC	embryonic stem cell:	embryo
38	chr17:33866301-33866351	ovcar-3	ovarian:	n/a
39	chr17:33866301-33866351	Caco-2	colon:	n/a
40	chr17:33866301-33866351	NT2-D1	testis:	n/a
41	chr17:33866301-33866351	Jurkat	blood:	n/a
42	chr17:33866301-33866351	MCF-7	breast:	n/a
43	chr17:33866301-33866351	K562	blood:	n/a
44	chr17:33866301-33866351	PANC-1	pancreas:	n/a
45	chr17:33866301-33866351	IMR90	lung:	fetal
46	chr17:33866301-33866351	MCF10A-Er-Src	breast:	n/a
47	chr17:33866301-33866351	NHBE	bronchial:	n/a
48	chr17:33866301-33866351	BE2_C	brain:	n/a
49	chr17:33866301-33866351	HAEpiC	amniotic membrane:	n/a
50	chr17:33866301-33866351	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33639796..33640300-chr17:33866137..33866644,2	MCF-7	breast:
2	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
3	chr17:33865333..33867975-chr17:33904009..33907160,3	K562	blood:
4	chr17:33498082..33498841-chr17:33866137..33866999,3	MCF-7	breast:
5	chr17:33865496..33867936-chr17:33913565..33917669,3	K562	blood:

No data

Variant related genes	Relation type
SLFN12L	TF binding region
SLFN12L	CpG island
ENSG00000108733	Chromatin interaction
ENSG00000006125	Chromatin interaction

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

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

rs_ID	r²[population]
rs11080353	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11080354	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11080355	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11659054	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12150450	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550268	0.88[ASN][1000 genomes]
rs35614987	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4795082	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7502331	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8065635	0.84[AFR][1000 genomes]
rs8070030	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv574754	chr17:33841737-33881631	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33862800-33869400	Weak transcription	Spleen	Spleen
2	chr17:33864000-33866600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:33864200-33866400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:33864200-33867200	Flanking Active TSS	Dnd41	blood
5	chr17:33864200-33867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:33864400-33866800	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:33864400-33867800	Weak transcription	Placenta	Placenta
8	chr17:33864400-33867800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:33864600-33866400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:33864600-33867200	Weak transcription	Small Intestine	intestine
11	chr17:33864600-33867800	Weak transcription	Psoas Muscle	Psoas
12	chr17:33864600-33868000	Enhancers	Fetal Thymus	thymus
13	chr17:33864800-33866600	Enhancers	Adipose Nuclei	Adipose
14	chr17:33864800-33866600	Enhancers	Fetal Lung	lung
15	chr17:33864800-33867600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr17:33864800-33867600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:33864800-33867600	Weak transcription	Left Ventricle	heart
18	chr17:33864800-33867600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr17:33864800-33867800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:33864800-33867800	Weak transcription	Right Atrium	heart
21	chr17:33865000-33866400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr17:33865000-33866400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr17:33865000-33866800	Weak transcription	Thymus	Thymus
24	chr17:33865200-33866600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr17:33865200-33866600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr17:33865200-33867600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:33865200-33867800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:33865400-33866400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:33865400-33866400	Weak transcription	Stomach Mucosa	stomach
30	chr17:33865400-33866400	Weak transcription	HUVEC	blood vessel
31	chr17:33865400-33866600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:33865400-33866600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr17:33865400-33866600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:33865400-33866600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr17:33865400-33868000	Weak transcription	Fetal Stomach	stomach
36	chr17:33865600-33866600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:33865600-33866600	Enhancers	Primary T cells from cord blood	blood
38	chr17:33865600-33866600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr17:33865600-33867600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:33865600-33867600	Weak transcription	NHDF-Ad	bronchial
41	chr17:33866000-33866400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr17:33866000-33866600	Enhancers	Liver	Liver
43	chr17:33866000-33866800	Enhancers	Ovary	ovary
44	chr17:33866000-33867000	Flanking Active TSS	K562	blood
45	chr17:33866000-33867800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr17:33866000-33868000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:33866000-33869800	Enhancers	Lung	lung
48	chr17:33866200-33866400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr17:33866200-33866400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr17:33866200-33866600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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