Variant report

Variant	rs545283160
Chromosome Location	chr13:95363581-95363582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:95363480-95363630	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr13:95363460-95363610	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr13:95363480-95363630	NHEK	skin:	n/a	n/a
4	CTCF	chr13:95363480-95363630	HPF	lung:	n/a	n/a
5	RAD21	chr13:95363157-95363769	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr13:95363540-95363690	GM06990	blood:	n/a	n/a
7	E2F6	chr13:95363475-95364128	K562	blood:	n/a	n/a
8	E2F6	chr13:95363260-95363863	A549	lung:	n/a	n/a
9	POLR2A	chr13:95363404-95364029	A549	lung:	n/a	n/a
10	CTCF	chr13:95363520-95363670	GM12871	blood:	n/a	n/a
11	CTCF	chr13:95363500-95363650	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr13:95363520-95363670	HFF-Myc	foreskin:	n/a	n/a
13	RAD21	chr13:95363492-95363671	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr13:95363536-95363781	GM12878	blood:	n/a	n/a
15	CTCF	chr13:95363540-95363690	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr13:95363332-95363774	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr13:95363156-95363697	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr13:95363460-95363610	GM12864	blood:	n/a	n/a
19	E2F6	chr13:95363538-95364009	K562	blood:	n/a	n/a
20	RAD21	chr13:95363493-95363656	IMR90	lung:	n/a	n/a
21	CTCF	chr13:95363520-95363670	GM12873	blood:	n/a	n/a
22	CTCF	chr13:95363293-95363757	NHEK	skin:	n/a	n/a
23	CTCF	chr13:95363580-95363730	GM12878	blood:	n/a	n/a
24	CTCF	chr13:95363480-95363630	GM12875	blood:	n/a	n/a
25	CTCF	chr13:95363520-95363670	GM12868	blood:	n/a	n/a
26	KAP1	chr13:95363193-95364285	HEK293	kidney:	n/a	n/a
27	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
28	JUND	chr13:95363510-95363649	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr13:95363520-95363670	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr13:95363494-95363747	A549	lung:	n/a	n/a
31	ZNF143	chr13:95363551-95363789	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr13:95363553-95363761	Fibrobl	skin:	n/a	n/a
33	CTCF	chr13:95363500-95363650	GM12864	blood:	n/a	n/a
34	CTCF	chr13:95363540-95363690	RPTEC	kidney:	n/a	n/a
35	MAX	chr13:95363160-95363696	ECC-1	luminal epithelium:	n/a	n/a
36	CTCF	chr13:95363533-95363772	GM12892	blood:	n/a	n/a
37	CTCF	chr13:95363574-95363740	GM10266	blood:	n/a	n/a
38	MAX	chr13:95363170-95364360	ECC-1	luminal epithelium:	n/a	chr13:95364328-95364338
39	CTCF	chr13:95363515-95363780	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr13:95363500-95363650	GM12865	blood:	n/a	n/a
41	RAD21	chr13:95363458-95363772	HepG2	liver:	n/a	n/a
42	CTCF	chr13:95363560-95363710	GM12868	blood:	n/a	n/a
43	CTCF	chr13:95363500-95363650	BE2_C	brain:	n/a	n/a
44	CTCF	chr13:95363520-95363670	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr13:95363500-95363650	GM12873	blood:	n/a	n/a
46	CTCF	chr13:95363525-95363761	GM13977	blood:	n/a	n/a
47	BACH1	chr13:95363239-95363779	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr13:95363443-95363754	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr13:95363540-95363690	GM12867	blood:	n/a	n/a
50	POLR2A	chr13:95362784-95364277	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(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
ENSG00000227640	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:105 , 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	chr13:95360000-95364000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:95360800-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:95361000-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:95361800-95363600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr13:95362200-95366000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr13:95362400-95366200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr13:95362400-95366200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr13:95362400-95366600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr13:95362400-95366800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr13:95362600-95364000	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr13:95362600-95364000	Bivalent/Poised TSS	NH-A	brain
18	chr13:95362600-95364800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:95362600-95365200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:95362600-95366200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr13:95362600-95366200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
22	chr13:95362600-95366400	Active TSS	Brain Substantia Nigra	brain
23	chr13:95362800-95363600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:95362800-95363600	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr13:95362800-95363600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr13:95362800-95364000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:95362800-95364000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:95362800-95364000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr13:95362800-95364000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr13:95362800-95364000	Active TSS	A549	lung
31	chr13:95362800-95365800	Bivalent Enhancer	Spleen	Spleen
32	chr13:95362800-95366000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr13:95362800-95366400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
34	chr13:95362800-95366800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr13:95363000-95363600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr13:95363000-95363600	Bivalent/Poised TSS	Small Intestine	intestine
37	chr13:95363000-95364000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr13:95363000-95364600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr13:95363000-95365800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr13:95363000-95366200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr13:95363000-95366200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr13:95363000-95366400	Bivalent/Poised TSS	NHEK	skin
43	chr13:95363000-95366600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr13:95363200-95363600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:95363200-95363600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:95363200-95363600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:95363200-95363600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:95363200-95363600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr13:95363200-95363600	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr13:95363200-95363600	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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