Variant report

Variant	rs550228217
Chromosome Location	chr13:95363813-95363814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr13:95363475-95364128	K562	blood:	n/a	n/a
2	E2F6	chr13:95363260-95363863	A549	lung:	n/a	n/a
3	POLR2A	chr13:95363404-95364029	A549	lung:	n/a	n/a
4	E2F6	chr13:95363538-95364009	K562	blood:	n/a	n/a
5	MAX	chr13:95363759-95364386	ECC-1	luminal epithelium:	n/a	chr13:95364328-95364338
6	KAP1	chr13:95363193-95364285	HEK293	kidney:	n/a	n/a
7	E2F6	chr13:95363086-95365042	H1-hESC	embryonic stem cell:	n/a	chr13:95364327-95364336 chr13:95364744-95364753 chr13:95364745-95364755 chr13:95364315-95364325 chr13:95364428-95364440
8	MAX	chr13:95363170-95364360	ECC-1	luminal epithelium:	n/a	chr13:95364328-95364338
9	POLR2A	chr13:95362784-95364277	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr13:95363515-95363819	GM12878	blood:	n/a	n/a
11	TAF1	chr13:95363430-95363821	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr13:95363043-95366255	H1-hESC	embryonic stem cell:	n/a	chr13:95364328-95364338 chr13:95365842-95365852 chr13:95364441-95364451
13	EGR1	chr13:95363807-95364155	ECC-1	luminal epithelium:	n/a	n/a
14	EGR1	chr13:95363787-95364041	K562	blood:	n/a	n/a
15	CTCF	chr13:95363083-95364212	SK-N-SH	brain:	n/a	n/a
16	E2F6	chr13:95363485-95364052	K562	blood:	n/a	n/a
17	POLR2A	chr13:95363643-95363852	A549	lung:	n/a	n/a
18	MAX	chr13:95363136-95365718	A549	lung:	n/a	chr13:95364328-95364338 chr13:95364441-95364451
19	POLR2A	chr13:95363335-95364059	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr13:95363343-95363820	K562	blood:	n/a	n/a
21	ZNF263	chr13:95363302-95366442	HEK293-T-REx	kidney:	n/a	chr13:95365861-95365870 chr13:95364830-95364851 chr13:95365858-95365867 chr13:95364868-95364889 chr13:95364662-95364671 chr13:95365767-95365776
22	YY1	chr13:95363461-95363919	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr13:95363659-95363837	A549	lung:	n/a	n/a
24	YY1	chr13:95363667-95363828	K562	blood:	n/a	n/a
25	BHLHE40	chr13:95363443-95364180	K562	blood:	n/a	n/a
26	MAX	chr13:95363212-95363879	A549	lung:	n/a	n/a
27	CTBP2	chr13:95363183-95366208	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr13:95363077-95364458	H1-hESC	embryonic stem cell:	n/a	chr13:95364328-95364338 chr13:95364441-95364451
29	E2F6	chr13:95363053-95365124	H1-hESC	embryonic stem cell:	n/a	chr13:95364327-95364336 chr13:95364744-95364753 chr13:95364745-95364755 chr13:95364315-95364325 chr13:95364428-95364440
30	MAX	chr13:95363343-95363818	K562	blood:	n/a	n/a
31	RAD21	chr13:95363303-95363836	H1-hESC	embryonic stem cell:	n/a	n/a
32	HMGN3	chr13:95363309-95364247	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95363811-95363861	NT2-D1	testis:	n/a
2	chr13:95363811-95363861	PrEC	prostate:	n/a
3	chr13:95363811-95363861	HCT-116	colon:	n/a
4	chr13:95363811-95363861	Hela-S3	cervix:	n/a
5	chr13:95363811-95363861	GM12878	blood:	n/a
6	chr13:95363811-95363861	HEK293	kidney:	embryo
7	chr13:95363811-95363861	HRPEpiC	eye:	n/a
8	chr13:95363811-95363861	AoSMC	blood vessel:	n/a
9	chr13:95363811-95363861	NB4	blood:	n/a
10	chr13:95363811-95363861	AG04450	lung:	fetal
11	chr13:95363811-95363861	AG04449	skin:	fetal
12	chr13:95363811-95363861	GM19239	blood:	n/a
13	chr13:95363811-95363861	AG09309	skin:	n/a
14	chr13:95363811-95363861	MCF10A-Er-Src	breast:	n/a
15	chr13:95363811-95363861	Jurkat	blood:	n/a
16	chr13:95363811-95363861	PFSK-1	brain:	n/a
17	chr13:95363811-95363861	HL-60	blood:	n/a
18	chr13:95363811-95363861	HPAEpiC	pulmonary alveolar:	n/a
19	chr13:95363811-95363861	HCPEpiC	choroid plexus:	n/a
20	chr13:95363811-95363861	K562	blood:	n/a
21	chr13:95363811-95363861	RPTEC	kidney:	n/a
22	chr13:95363811-95363861	ProgFib	skin:	n/a
23	chr13:95363811-95363861	HepG2	liver:	n/a
24	chr13:95363811-95363861	GM12892	blood:	n/a
25	chr13:95363811-95363861	H1-hESC	embryonic stem cell:	embryo
26	chr13:95363811-95363861	HRCEpiC	kidney:	n/a
27	chr13:95363811-95363861	CMK	blood:	n/a
28	chr13:95363811-95363861	SK-N-SH	brain:	n/a
29	chr13:95363811-95363861	U87	brain:	n/a
30	chr13:95363811-95363861	HCM	heart:	n/a
31	chr13:95363811-95363861	IMR90	lung:	fetal
32	chr13:95363811-95363861	SK-N-SH_RA	brain:	n/a
33	chr13:95363811-95363861	Caco-2	colon:	n/a
34	chr13:95363811-95363861	BE2_C	brain:	n/a
35	chr13:95363811-95363861	HIPEpiC	eye:	n/a
36	chr13:95363811-95363861	MCF-7	breast:	n/a
37	chr13:95363811-95363861	HCF	heart:	n/a
38	chr13:95363811-95363861	AG09319	gingival:	n/a
39	chr13:95363811-95363861	HRE	kidney:	n/a
40	chr13:95363811-95363861	NHDF-neo	bronchial:	n/a
41	chr13:95363811-95363861	GM12891	blood:	n/a
42	chr13:95363811-95363861	SAEC	small airway:	n/a
43	chr13:95363811-95363861	NHBE	bronchial:	n/a
44	chr13:95363811-95363861	HEEpiC	esophagus:	n/a
45	chr13:95363811-95363861	NH-A	brain:	n/a
46	chr13:95363811-95363861	Hepatocyte	liver:	n/a
47	chr13:95363811-95363861	PANC-1	pancreas:	n/a
48	chr13:95363811-95363861	SKMC	muscle:	n/a
49	chr13:95363811-95363861	T-47D	breast:	n/a
50	chr13:95363811-95363861	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
2	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:

No data

Variant related genes	Relation type
SOX21-AS1	TF binding region
SOX21-AS1	CpG island
ENSG00000227640	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active 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	20 gene(s)	inside rSNPs	diseases
3	esv1813549	chr13:95333331-95377127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1824604	chr13:95357807-95365771	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv826750	chr13:95358502-95368070	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3407787	chr13:95362576-95365124	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1054343	chr13:95362727-95395486	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3446235	chr13:95362851-95366749	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv21011	chr13:95363104-95365838	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3442696	chr13:95363176-95365724	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv562760	chr13:95363617-95365119	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv562761	chr13:95363617-95365251	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv562762	chr13:95363617-95365381	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv562763	chr13:95363617-95365719	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1795447	chr13:95363617-95365771	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1806096	chr13:95363617-95365771	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1838082	chr13:95363617-95365771	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv562764	chr13:95363792-95365596	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:95359600-95366000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr13:95359600-95366400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:95360000-95364000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr13:95362200-95366000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr13:95362400-95366200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr13:95362400-95366200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr13:95362400-95366600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr13:95362400-95366800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr13:95362600-95364000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr13:95362600-95364000	Bivalent/Poised TSS	NH-A	brain
15	chr13:95362600-95364800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:95362600-95365200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:95362600-95366200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr13:95362600-95366200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
19	chr13:95362600-95366400	Active TSS	Brain Substantia Nigra	brain
20	chr13:95362800-95364000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:95362800-95364000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:95362800-95364000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr13:95362800-95364000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr13:95362800-95364000	Active TSS	A549	lung
25	chr13:95362800-95365800	Bivalent Enhancer	Spleen	Spleen
26	chr13:95362800-95366000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr13:95362800-95366400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
28	chr13:95362800-95366800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr13:95363000-95364000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr13:95363000-95364600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:95363000-95365800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr13:95363000-95366200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr13:95363000-95366200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr13:95363000-95366400	Bivalent/Poised TSS	NHEK	skin
35	chr13:95363000-95366600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr13:95363200-95364000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:95363200-95364000	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr13:95363200-95364000	Bivalent/Poised TSS	HSMM	muscle
39	chr13:95363200-95364200	Transcr. at gene 5' and 3'	Right Atrium	heart
40	chr13:95363200-95364400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:95363200-95364400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr13:95363200-95364400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
43	chr13:95363200-95364400	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr13:95363200-95364600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
45	chr13:95363200-95365000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:95363200-95365000	Bivalent Enhancer	Lung	lung
47	chr13:95363200-95365000	Flanking Bivalent TSS/Enh	Ovary	ovary
48	chr13:95363200-95365400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
49	chr13:95363200-95365600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:95363200-95366200	Bivalent Enhancer	Placenta	Placenta

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