Variant report

Variant	rs568224435
Chromosome Location	chr15:56034288-56034289
allele	A/G
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	MAFK	chr15:56034264-56034635	Hela-S3	cervix:	n/a	n/a
2	SMARCB1	chr15:56033753-56036042	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr15:56033962-56035723	IMR90	lung:	n/a	chr15:56034632-56034641
4	FOXA2	chr15:56034202-56034759	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:56033776-56035901	HepG2	liver:	n/a	n/a
6	TCF12	chr15:56034254-56035751	ECC-1	luminal epithelium:	n/a	chr15:56034864-56034871
7	MYC	chr15:56033992-56035562	A549	lung:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
8	MAX	chr15:56034286-56034901	MCF-7	breast:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
9	TCF12	chr15:56034098-56036186	A549	lung:	n/a	chr15:56034864-56034871 chr15:56036136-56036146
10	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
11	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
12	FOXA2	chr15:56034252-56034954	A549	lung:	n/a	n/a
13	POLR2A	chr15:56034245-56035624	Hela-S3	cervix:	n/a	n/a
14	SIN3A	chr15:56033970-56035625	H1-hESC	embryonic stem cell:	n/a	chr15:56035360-56035371 chr15:56034906-56034919 chr15:56035334-56035345
15	MXI1	chr15:56032346-56036713	SK-N-SH	brain:	n/a	chr15:56034632-56034641
16	POLR2A	chr15:56034190-56034445	HepG2	liver:	n/a	n/a
17	MAX	chr15:56034198-56034811	SK-N-SH	brain:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
18	ZKSCAN1	chr15:56034212-56034866	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:56033732-56035727	Hela-S3	cervix:	n/a	n/a
20	MAX	chr15:56034264-56035835	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
21	TBP	chr15:56034281-56034615	Hela-S3	cervix:	n/a	n/a
22	MAX	chr15:56034259-56035585	Hela-S3	cervix:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
23	MAX	chr15:56034188-56035828	A549	lung:	n/a	chr15:56034634-56034641 chr15:56035766-56035776 chr15:56035588-56035598 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
24	TCF7L2	chr15:56033793-56035428	Hela-S3	cervix:	n/a	chr15:56034066-56034075 chr15:56034067-56034077 chr15:56034064-56034078 chr15:56034196-56034210
25	SIN3AK20	chr15:56034267-56035773	PANC-1	pancreas:	n/a	n/a
26	FOXA2	chr15:56034247-56034769	A549	lung:	n/a	n/a
27	MAX	chr15:56034103-56035956	A549	lung:	n/a	chr15:56034634-56034641 chr15:56035766-56035776 chr15:56035588-56035598 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642 chr15:56035366-56035376
28	SIN3AK20	chr15:56034061-56034981	MCF-7	breast:	n/a	n/a
29	BRCA1	chr15:56034160-56034637	Hela-S3	cervix:	n/a	n/a
30	MYC	chr15:56034282-56034820	MCF10A-Er-Src	breast:	n/a	chr15:56034634-56034641 chr15:56034633-56034642 chr15:56034631-56034639 chr15:56034632-56034642
31	HA-E2F1	chr15:56034277-56035430	MCF-7	breast:	n/a	chr15:56035370-56035380 chr15:56035020-56035034 chr15:56035354-56035364 chr15:56034720-56034735 chr15:56034690-56034699
32	CTCF	chr15:56034280-56034430	AG09309	skin:	n/a	n/a
33	CTCF	chr15:56034240-56034390	GM12871	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:56034245-56034295	A549	lung:	n/a
2	chr15:56034245-56034295	BE2_C	brain:	n/a
3	chr15:56034245-56034295	HCM	heart:	n/a
4	chr15:56034245-56034295	AG10803	skin:	n/a
5	chr15:56034245-56034295	AG09319	gingival:	n/a
6	chr15:56034245-56034295	Hela-S3	cervix:	n/a
7	chr15:56034245-56034295	SK-N-SH	brain:	n/a
8	chr15:56034245-56034295	BJ	skin:	n/a
9	chr15:56034245-56034295	GM12892	blood:	n/a
10	chr15:56034245-56034295	NH-A	brain:	n/a
11	chr15:56034245-56034295	SK-N-SH_RA	brain:	n/a
12	chr15:56034245-56034295	ECC-1	luminal epithelium:	n/a
13	chr15:56034245-56034295	RPTEC	kidney:	n/a
14	chr15:56034245-56034295	LNCaP	prostate:	n/a
15	chr15:56034245-56034295	HIPEpiC	eye:	n/a
16	chr15:56034245-56034295	HCPEpiC	choroid plexus:	n/a
17	chr15:56034245-56034295	Jurkat	blood:	n/a
18	chr15:56034245-56034295	NHBE	bronchial:	n/a
19	chr15:56034245-56034295	HRE	kidney:	n/a
20	chr15:56034245-56034295	NT2-D1	testis:	n/a
21	chr15:56034245-56034295	ProgFib	skin:	n/a
22	chr15:56034245-56034295	HNPCEpiC	eye:	n/a
23	chr15:56034245-56034295	HCF	heart:	n/a
24	chr15:56034245-56034295	PANC-1	pancreas:	n/a
25	chr15:56034245-56034295	HUVEC	blood vessel:	n/a
26	chr15:56034245-56034295	GM19239	blood:	n/a
27	chr15:56034245-56034295	HPAEpiC	pulmonary alveolar:	n/a
28	chr15:56034245-56034295	HRCEpiC	kidney:	n/a
29	chr15:56034245-56034295	K562	blood:	n/a
30	chr15:56034245-56034295	AG09309	skin:	n/a
31	chr15:56034245-56034295	CMK	blood:	n/a
32	chr15:56034245-56034295	Hepatocyte	liver:	n/a
33	chr15:56034245-56034295	GM06990	blood:	n/a
34	chr15:56034245-56034295	H1-hESC	embryonic stem cell:	embryo
35	chr15:56034245-56034295	NB4	blood:	n/a
36	chr15:56034245-56034295	AG04450	lung:	fetal
37	chr15:56034245-56034295	PrEC	prostate:	n/a
38	chr15:56034245-56034295	GM12891	blood:	n/a
39	chr15:56034245-56034295	MCF10A-Er-Src	breast:	n/a
40	chr15:56034245-56034295	HRPEpiC	eye:	n/a
41	chr15:56034245-56034295	SKMC	muscle:	n/a
42	chr15:56034245-56034295	GM12878	blood:	n/a
43	chr15:56034245-56034295	AoSMC	blood vessel:	n/a
44	chr15:56034245-56034295	IMR90	lung:	fetal
45	chr15:56034245-56034295	U87	brain:	n/a
46	chr15:56034245-56034295	HEEpiC	esophagus:	n/a
47	chr15:56034245-56034295	Caco-2	colon:	n/a
48	chr15:56034245-56034295	SK-N-MC	brain:	n/a
49	chr15:56034245-56034295	HEK293	kidney:	embryo
50	chr15:56034245-56034295	AG04449	skin:	fetal

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
ENSG00000259369	CpG island
ENSG00000251484	Chromatin interaction
ENSG00000166450	Chromatin interaction
ENSG00000221218	Chromatin interaction
ENSG00000259369	Chromatin interaction
ENSG00000212195	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:124 , 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	chr15:56033200-56034400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
8	chr15:56033200-56034600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:56033200-56036000	Active TSS	Placenta Amnion	Placenta Amnion
10	chr15:56033400-56034400	Flanking Active TSS	Hela-S3	cervix
11	chr15:56033400-56034600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr15:56033400-56036200	Active TSS	Ovary	ovary
13	chr15:56033600-56034400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr15:56033600-56034400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr15:56033600-56034400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
16	chr15:56033600-56034400	Bivalent Enhancer	Liver	Liver
17	chr15:56033600-56034400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr15:56033600-56034400	Flanking Active TSS	HSMM	muscle
19	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
20	chr15:56033600-56034600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr15:56033600-56034600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr15:56033600-56034600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:56033600-56034600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr15:56033600-56034600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
29	chr15:56033600-56034600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:56033600-56034600	Flanking Active TSS	HUVEC	blood vessel
31	chr15:56033600-56034800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
32	chr15:56033600-56034800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
33	chr15:56033600-56035000	Active TSS	Right Atrium	heart
34	chr15:56033600-56035600	Bivalent/Poised TSS	NHDF-Ad	bronchial
35	chr15:56033600-56035800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:56033600-56035800	Active TSS	Fetal Intestine Large	intestine
37	chr15:56033600-56035800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr15:56033600-56035800	Active TSS	Lung	lung
39	chr15:56033600-56036000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:56033600-56036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr15:56033600-56036000	Active TSS	Aorta	Aorta
42	chr15:56033600-56036000	Active TSS	Right Ventricle	heart
43	chr15:56033600-56036200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr15:56033800-56034400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:56033800-56034400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:56033800-56034400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:56033800-56034400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr15:56033800-56034400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr15:56033800-56034400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:56033800-56034400	Bivalent Enhancer	Esophagus	oesophagus

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