Variant report

Variant	rs551643199
Chromosome Location	chr13:95364999-95365000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr13:95364487-95365256	ECC-1	luminal epithelium:	n/a	n/a
2	SIN3A	chr13:95363903-95366238	H1-hESC	embryonic stem cell:	n/a	chr13:95364649-95364660 chr13:95364957-95364966
3	POLR2A	chr13:95364848-95365727	PBDE	blood:	n/a	n/a
4	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
5	MAX	chr13:95364535-95365769	ECC-1	luminal epithelium:	n/a	n/a
6	TBP	chr13:95364557-95366057	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr13:95364935-95365788	MCF-7	breast:	n/a	n/a
8	BACH1	chr13:95364963-95365163	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr13:95364549-95365677	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr13:95363043-95366255	H1-hESC	embryonic stem cell:	n/a	chr13:95364328-95364338 chr13:95365842-95365852 chr13:95364441-95364451
11	KAP1	chr13:95364844-95365672	HEK293	kidney:	n/a	n/a
12	MAX	chr13:95363136-95365718	A549	lung:	n/a	chr13:95364328-95364338 chr13:95364441-95364451
13	ZNF384	chr13:95364993-95365048	K562	blood:	n/a	n/a
14	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
15	POLR2A	chr13:95364688-95365166	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr13:95364561-95365151	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr13:95364465-95365680	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr13:95363183-95366208	H1-hESC	embryonic stem cell:	n/a	n/a
19	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
20	MAX	chr13:95364576-95365070	A549	lung:	n/a	n/a
21	MXI1	chr13:95364694-95365481	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr13:95364711-95365007	H1-hESC	embryonic stem cell:	n/a	chr13:95364844-95364863

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95364993-95365043	H1-hESC	embryonic stem cell:	embryo
2	chr13:95364993-95365043	BE2_C	brain:	n/a
3	chr13:95364993-95365043	NT2-D1	testis:	n/a
4	chr13:95364993-95365043	HepG2	liver:	n/a
5	chr13:95364993-95365043	BJ	skin:	n/a
6	chr13:95364993-95365043	GM06990	blood:	n/a
7	chr13:95364993-95365043	GM19239	blood:	n/a
8	chr13:95364993-95365043	HUVEC	blood vessel:	n/a
9	chr13:95364993-95365043	T-47D	breast:	n/a
10	chr13:95364993-95365043	AG04449	skin:	fetal
11	chr13:95364993-95365043	HMEC	breast:	n/a
12	chr13:95364993-95365043	NHBE	bronchial:	n/a
13	chr13:95364993-95365043	AG09309	skin:	n/a
14	chr13:95364993-95365043	HRPEpiC	eye:	n/a
15	chr13:95364993-95365043	HIPEpiC	eye:	n/a
16	chr13:95364993-95365043	NHDF-neo	bronchial:	n/a
17	chr13:95364993-95365043	CMK	blood:	n/a
18	chr13:95364993-95365043	MCF-7	breast:	n/a
19	chr13:95364993-95365043	HEK293	kidney:	embryo
20	chr13:95364993-95365043	AG04450	lung:	fetal
21	chr13:95364993-95365043	HCT-116	colon:	n/a
22	chr13:95364993-95365043	HRCEpiC	kidney:	n/a
23	chr13:95364993-95365043	SK-N-SH_RA	brain:	n/a
24	chr13:95364993-95365043	GM12878	blood:	n/a
25	chr13:95364993-95365043	SK-N-SH	brain:	n/a
26	chr13:95364993-95365043	K562	blood:	n/a
27	chr13:95364993-95365043	Caco-2	colon:	n/a
28	chr13:95364993-95365043	SK-N-MC	brain:	n/a
29	chr13:95364993-95365043	LNCaP	prostate:	n/a
30	chr13:95364993-95365043	U87	brain:	n/a
31	chr13:95364993-95365043	NH-A	brain:	n/a
32	chr13:95364993-95365043	ECC-1	luminal epithelium:	n/a
33	chr13:95364993-95365043	ovcar-3	ovarian:	n/a
34	chr13:95364993-95365043	Hela-S3	cervix:	n/a
35	chr13:95364993-95365043	PFSK-1	brain:	n/a
36	chr13:95364993-95365043	MCF10A-Er-Src	breast:	n/a
37	chr13:95364993-95365043	Hepatocyte	liver:	n/a
38	chr13:95364993-95365043	HNPCEpiC	eye:	n/a
39	chr13:95364993-95365043	Jurkat	blood:	n/a
40	chr13:95364993-95365043	IMR90	lung:	fetal
41	chr13:95364993-95365043	HPAEpiC	pulmonary alveolar:	n/a
42	chr13:95364993-95365043	SKMC	muscle:	n/a
43	chr13:95364993-95365043	HEEpiC	esophagus:	n/a
44	chr13:95364993-95365043	NB4	blood:	n/a
45	chr13:95364993-95365043	GM12891	blood:	n/a
46	chr13:95364993-95365043	AG09319	gingival:	n/a
47	chr13:95364993-95365043	SAEC	small airway:	n/a
48	chr13:95364993-95365043	HL-60	blood:	n/a
49	chr13:95364993-95365043	HAEpiC	amniotic membrane:	n/a
50	chr13:95364993-95365043	A549	lung:	n/a

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

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

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-1	chr13:95364970-95365647	XLOC_010472
2	lnc-GPR180-1	chr13:95364970-95365647	NR_046514
3	lnc-GPR180-1	chr13:95364970-95365647	ENSG00000227640.2

No data

Variant related genes	Relation type
SOX21	TF binding region
SOX21	CpG island
ENSG00000125285	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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
19	nsv562765	chr13:95363998-95365719	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv1795090	chr13:95363998-95365771	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
21	nsv562766	chr13:95364375-95365771	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

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	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr13:95362200-95366000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr13:95362400-95366200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr13:95362400-95366200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr13:95362400-95366600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr13:95362400-95366800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr13:95362600-95365200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:95362600-95366200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr13:95362600-95366200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr13:95362600-95366400	Active TSS	Brain Substantia Nigra	brain
16	chr13:95362800-95365800	Bivalent Enhancer	Spleen	Spleen
17	chr13:95362800-95366000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr13:95362800-95366400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr13:95362800-95366800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr13:95363000-95365800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr13:95363000-95366200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr13:95363000-95366200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr13:95363000-95366400	Bivalent/Poised TSS	NHEK	skin
24	chr13:95363000-95366600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr13:95363200-95365000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:95363200-95365000	Bivalent Enhancer	Lung	lung
27	chr13:95363200-95365000	Flanking Bivalent TSS/Enh	Ovary	ovary
28	chr13:95363200-95365400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
29	chr13:95363200-95365600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:95363200-95366200	Bivalent Enhancer	Placenta	Placenta
31	chr13:95363200-95366200	Bivalent/Poised TSS	Stomach Mucosa	stomach
32	chr13:95363400-95365200	Enhancers	Fetal Heart	heart
33	chr13:95363400-95365200	Bivalent Enhancer	Fetal Thymus	thymus
34	chr13:95363400-95365600	Active TSS	Aorta	Aorta
35	chr13:95363400-95365600	Bivalent/Poised TSS	NHLF	lung
36	chr13:95363400-95366000	Enhancers	Liver	Liver
37	chr13:95363400-95366400	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr13:95363600-95365000	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr13:95363600-95366200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:95363600-95367000	Active TSS	Brain Anterior Caudate	brain
41	chr13:95363600-95367800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:95363800-95365200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr13:95363800-95365200	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr13:95363800-95365800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:95364000-95365000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:95364000-95365000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:95364000-95365000	Bivalent Enhancer	Fetal Lung	lung
48	chr13:95364000-95365000	Flanking Bivalent TSS/Enh	NH-A	brain
49	chr13:95364000-95365200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
50	chr13:95364000-95365200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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