Variant report

Variant	rs370147522
Chromosome Location	chr15:56034595-56034596
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:56034473-56034673	A549	lung:	n/a	chr15:56034479-56034492 chr15:56034585-56034598
2	CTCF	chr15:56034500-56034650	AoAF	blood vessel:	n/a	chr15:56034585-56034598
3	REST	chr15:56034595-56034889	PFSK-1	brain:	n/a	chr15:56034747-56034756
4	RAD21	chr15:56034351-56034690	SK-N-SH_RA	brain:	n/a	chr15:56034583-56034595 chr15:56034585-56034595
5	CTCF	chr15:56034520-56034670	HRPEpiC	eye:	n/a	chr15:56034585-56034598
6	POLR2A	chr15:56034304-56035650	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr15:56034515-56034661	MCF-7	breast:	n/a	chr15:56034585-56034598
8	CTCF	chr15:56034500-56034650	HA-sp	spinal cord:	n/a	chr15:56034585-56034598
9	HA-E2F1	chr15:56034537-56035563	Hela-S3	cervix:	n/a	chr15:56035370-56035380 chr15:56035020-56035034 chr15:56035354-56035364 chr15:56034720-56034735 chr15:56034690-56034699
10	USF1	chr15:56034493-56034711	HepG2	liver:	n/a	chr15:56034581-56034597
11	POLR2A	chr15:56034368-56035590	HEK293	kidney:	n/a	n/a
12	CTCF	chr15:56034480-56034630	GM06990	blood:	n/a	chr15:56034585-56034598
13	E2F6	chr15:56034395-56034758	A549	lung:	n/a	chr15:56034720-56034735 chr15:56034690-56034699
14	CTCF	chr15:56034460-56034610	Caco-2	colon:	n/a	chr15:56034479-56034492 chr15:56034585-56034598
15	CTCF	chr15:56034480-56034683	HepG2	liver:	n/a	chr15:56034585-56034598
16	CEBPB	chr15:56034423-56035080	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr15:56034494-56034682	GM19238	blood:	n/a	chr15:56034585-56034598
18	MAFK	chr15:56034264-56034635	Hela-S3	cervix:	n/a	n/a
19	SMARCB1	chr15:56033753-56036042	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:56034402-56034726	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr15:56034576-56034612	H1-hESC	embryonic stem cell:	n/a	chr15:56034585-56034598
22	CTCF	chr15:56034480-56034630	BE2_C	brain:	n/a	chr15:56034585-56034598
23	MXI1	chr15:56033962-56035723	IMR90	lung:	n/a	chr15:56034632-56034641
24	FOXA2	chr15:56034202-56034759	HepG2	liver:	n/a	n/a
25	MAX	chr15:56034473-56034674	K562	blood:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
26	CTCF	chr15:56034460-56034610	AoAF	blood vessel:	n/a	chr15:56034479-56034492 chr15:56034585-56034598
27	MAZ	chr15:56034299-56035653	Hela-S3	cervix:	n/a	chr15:56034634-56034641 chr15:56035588-56035598 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
28	MAX	chr15:56034354-56034872	MCF-7	breast:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
29	SIN3AK20	chr15:56034397-56034670	PFSK-1	brain:	n/a	n/a
30	CTCF	chr15:56034513-56034686	MCF-7	breast:	n/a	chr15:56034585-56034598
31	ELK1	chr15:56034397-56034712	Hela-S3	cervix:	n/a	n/a
32	REST	chr15:56034542-56034984	PFSK-1	brain:	n/a	chr15:56034747-56034756
33	POLR2A	chr15:56033776-56035901	HepG2	liver:	n/a	n/a
34	E2F6	chr15:56034448-56034755	K562	blood:	n/a	chr15:56034720-56034735 chr15:56034690-56034699
35	TCF12	chr15:56034254-56035751	ECC-1	luminal epithelium:	n/a	chr15:56034864-56034871
36	MYC	chr15:56033992-56035562	A549	lung:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
37	CTCF	chr15:56034520-56034670	GM12871	blood:	n/a	chr15:56034585-56034598
38	MAX	chr15:56034533-56034738	K562	blood:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
39	RFX5	chr15:56034335-56034774	Hela-S3	cervix:	n/a	n/a
40	MAX	chr15:56034286-56034901	MCF-7	breast:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
41	TCF12	chr15:56034098-56036186	A549	lung:	n/a	chr15:56034864-56034871 chr15:56036136-56036146
42	REST	chr15:56034532-56035693	ECC-1	luminal epithelium:	n/a	chr15:56035363-56035376 chr15:56034747-56034756 chr15:56035619-56035628 chr15:56035386-56035395
43	MAX	chr15:56034405-56034833	K562	blood:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
44	MAX	chr15:56034282-56035697	ECC-1	luminal epithelium:	n/a	chr15:56034634-56034641 chr15:56035588-56035598 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
45	MYC	chr15:56034395-56035540	MCF10A-Er-Src	breast:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
46	RFX5	chr15:56034527-56034939	HepG2	liver:	n/a	n/a
47	POLR2A	chr15:56034590-56035781	A549	lung:	n/a	n/a
48	CHD2	chr15:56034462-56034688	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr15:56034182-56035795	HepG2	liver:	n/a	chr15:56034634-56034641 chr15:56035766-56035776 chr15:56035588-56035598 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
50	CTCF	chr15:56034520-56034670	AG09319	gingival:	n/a	chr15:56034585-56034598

No.	Distal block	Cell Line	Cell type
1	chr15:56033858..56036761-chr15:56051440..56053715,2	MCF-7	breast:
2	chr15:55965960..55968011-chr15:56032220..56035162,2	MCF-7	breast:
3	chr15:56033073..56035225-chr17:56708615..56710685,2	MCF-7	breast:
4	chr1:109645681..109648514-chr15:56034152..56035869,2	MCF-7	breast:
5	chr15:56034248..56036795-chr15:56038057..56039658,2	MCF-7	breast:
6	chr15:56031905..56035384-chr15:56036677..56038977,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259369	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000221218	Chromatin interaction
ENSG00000166450	Chromatin interaction
ENSG00000251484	Chromatin interaction
ENSG00000259369	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv3366380	chr15:56003224-56141650	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv1052495	chr15:56013617-56102164	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3390617	chr15:56034285-56036833	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56030400-56034600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:56030600-56034600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:56031400-56036600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:56032600-56035400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:56032600-56036200	Active TSS	Fetal Kidney	kidney
6	chr15:56033000-56034800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:56033200-56034600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:56033200-56036000	Active TSS	Placenta Amnion	Placenta Amnion
9	chr15:56033400-56034600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr15:56033400-56036200	Active TSS	Ovary	ovary
11	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
12	chr15:56033600-56034600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr15:56033600-56034600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr15:56033600-56034600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:56033600-56034600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
16	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr15:56033600-56034600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
20	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
21	chr15:56033600-56034600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr15:56033600-56034600	Flanking Active TSS	HUVEC	blood vessel
23	chr15:56033600-56034800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr15:56033600-56034800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
25	chr15:56033600-56035000	Active TSS	Right Atrium	heart
26	chr15:56033600-56035600	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr15:56033600-56035800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:56033600-56035800	Active TSS	Fetal Intestine Large	intestine
29	chr15:56033600-56035800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr15:56033600-56035800	Active TSS	Lung	lung
31	chr15:56033600-56036000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:56033600-56036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr15:56033600-56036000	Active TSS	Aorta	Aorta
34	chr15:56033600-56036000	Active TSS	Right Ventricle	heart
35	chr15:56033600-56036200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr15:56033800-56034600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr15:56033800-56034600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:56033800-56034600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:56033800-56034600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:56033800-56034600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr15:56033800-56034600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr15:56033800-56034600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr15:56033800-56034800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr15:56033800-56034800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr15:56033800-56034800	Active TSS	Psoas Muscle	Psoas
46	chr15:56033800-56035400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr15:56033800-56035600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr15:56033800-56035800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:56033800-56035800	Active TSS	Gastric	stomach
50	chr15:56034000-56034600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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