Variant report

Variant	rs567684485
Chromosome Location	chr15:100273110-100273111
allele	C/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	E2F6	chr15:100272913-100273230	K562	blood:	n/a	n/a
2	BACH1	chr15:100272807-100274184	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZKSCAN1	chr15:100273096-100273553	Hela-S3	cervix:	n/a	n/a
4	EGR1	chr15:100272922-100273116	GM12878	blood:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
5	POLR2A	chr15:100272971-100274160	GM19193	blood:	n/a	n/a
6	MAX	chr15:100272976-100274106	MCF-7	breast:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
7	MXI1	chr15:100272788-100274192	HepG2	liver:	n/a	n/a
8	CCNT2	chr15:100273066-100273777	K562	blood:	n/a	chr15:100273359-100273368
9	E2F6	chr15:100272795-100273478	A549	lung:	n/a	n/a
10	TCF3	chr15:100272936-100273643	GM12878	blood:	n/a	n/a
11	MAZ	chr15:100272245-100274211	IMR90	lung:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
12	ZBTB7A	chr15:100272759-100273801	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr15:100273059-100273647	HepG2	liver:	n/a	chr15:100273091-100273101
14	MAZ	chr15:100272890-100274127	Hela-S3	cervix:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
15	CHD2	chr15:100272844-100274197	H1-hESC	embryonic stem cell:	n/a	chr15:100273093-100273103
16	MAX	chr15:100272796-100274103	ECC-1	luminal epithelium:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
17	POLR2A	chr15:100273102-100274179	GM18526	blood:	n/a	n/a
18	CREB1	chr15:100273061-100274304	HepG2	liver:	n/a	n/a
19	RCOR1	chr15:100272732-100274058	Hela-S3	cervix:	n/a	n/a
20	HDAC2	chr15:100272826-100273111	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:100272902-100274233	Hela-S3	cervix:	n/a	n/a
22	SIN3A	chr15:100272525-100273744	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:100273091-100273734	Hela-S3	cervix:	n/a	n/a
24	EGR1	chr15:100272870-100273158	K562	blood:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
25	EGR1	chr15:100272844-100273149	H1-hESC	embryonic stem cell:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
26	MAX	chr15:100272940-100273148	K562	blood:	n/a	chr15:100273091-100273101 chr15:100273030-100273039
27	ZBTB7A	chr15:100272754-100273773	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr15:100272719-100274219	A549	lung:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
29	POLR2A	chr15:100272567-100274201	Hela-S3	cervix:	n/a	n/a
30	NR2F2	chr15:100272970-100274170	MCF-7	breast:	n/a	chr15:100273347-100273362
31	HDAC2	chr15:100272988-100274119	MCF-7	breast:	n/a	n/a
32	EGR1	chr15:100272885-100273474	MCF-7	breast:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273432-100273442 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
33	MAX	chr15:100272766-100274316	HepG2	liver:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
34	NR2F2	chr15:100272776-100274258	MCF-7	breast:	n/a	chr15:100273347-100273362
35	SMARCB1	chr15:100272815-100273678	Hela-S3	cervix:	n/a	n/a
36	E2F6	chr15:100272732-100273471	H1-hESC	embryonic stem cell:	n/a	n/a
37	HCFC1	chr15:100272137-100274363	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr15:100272699-100273141	H1-hESC	embryonic stem cell:	n/a	n/a
39	E2F6	chr15:100272900-100273418	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr15:100272833-100274049	A549	lung:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
41	POLR2A	chr15:100273044-100274534	HepG2	liver:	n/a	n/a
42	NR2C2	chr15:100273104-100273678	HepG2	liver:	n/a	chr15:100273347-100273362 chr15:100273350-100273359 chr15:100273348-100273361 chr15:100273343-100273352 chr15:100273119-100273132
43	CHD2	chr15:100272750-100274110	Hela-S3	cervix:	n/a	chr15:100273093-100273103
44	HMGN3	chr15:100272951-100273669	K562	blood:	n/a	n/a
45	MAX	chr15:100272936-100274068	Hela-S3	cervix:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
46	POLR2A	chr15:100272821-100274348	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:100273085-100274076	HepG2	liver:	n/a	n/a
48	POLR2A	chr15:100272933-100273176	HUVEC	blood vessel:	n/a	n/a
49	EGR1	chr15:100272941-100273112	GM12878	blood:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
50	SMC3	chr15:100273083-100274057	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:99826798..99828339-chr15:100272977..100274878,2	MCF-7	breast:
2	chr15:99789846..99791808-chr15:100272487..100274799,2	MCF-7	breast:
3	chr15:100105670..100107207-chr15:100272767..100275061,2	MCF-7	breast:

Variant related genes	Relation type
LYSMD4	TF binding region
ENSG00000168904	Chromatin interaction
ENSG00000068305	Chromatin interaction
ENSG00000103852	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1038005	chr15:100170414-100633714	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542522	chr15:100170414-100633714	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv904560	chr15:100196657-100339331	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
7	nsv904561	chr15:100204918-100486828	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv428313	chr15:100236203-100757039	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
9	nsv904563	chr15:100239546-100274747	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv570730	chr15:100240910-100700520	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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
11	nsv1045838	chr15:100243067-101032218	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv904564	chr15:100245296-100723798	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats 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
13	nsv932678	chr15:100250311-101012358	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	33 gene(s)	inside rSNPs	diseases
14	esv3356054	chr15:100272454-100275002	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100271200-100274000	Active TSS	Fetal Intestine Large	intestine
2	chr15:100271600-100273200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:100271600-100274200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr15:100271800-100273200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr15:100271800-100273400	Flanking Active TSS	Colonic Mucosa	Colon
6	chr15:100271800-100274200	Active TSS	Rectal Smooth Muscle	rectum
7	chr15:100272000-100273200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr15:100272000-100273200	Flanking Active TSS	Dnd41	blood
9	chr15:100272000-100273600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr15:100272000-100274000	Active TSS	Colon Smooth Muscle	Colon
11	chr15:100272000-100274000	Active TSS	Fetal Intestine Small	intestine
12	chr15:100272000-100274200	Active TSS	NHLF	lung
13	chr15:100272200-100273200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:100272200-100273200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:100272200-100273200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:100272200-100273200	Flanking Active TSS	NH-A	brain
17	chr15:100272200-100274000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr15:100272200-100274000	Active TSS	Fetal Stomach	stomach
19	chr15:100272200-100274000	Active TSS	Right Atrium	heart
20	chr15:100272200-100274000	Active TSS	Right Ventricle	heart
21	chr15:100272200-100274200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:100272200-100274200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:100272200-100274200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr15:100272400-100273200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr15:100272400-100273200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr15:100272400-100273200	Flanking Active TSS	Thymus	Thymus
27	chr15:100272400-100273200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr15:100272400-100273400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:100272400-100273400	Flanking Active TSS	Placenta	Placenta
30	chr15:100272400-100274000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr15:100272400-100274000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:100272400-100274000	Active TSS	Left Ventricle	heart
33	chr15:100272400-100274000	Active TSS	Lung	lung
34	chr15:100272400-100274000	Active TSS	Pancreas	Pancrea
35	chr15:100272400-100274000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr15:100272400-100274200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:100272400-100274200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:100272400-100274200	Active TSS	Aorta	Aorta
39	chr15:100272400-100274200	Active TSS	Esophagus	oesophagus
40	chr15:100272400-100274200	Active TSS	Fetal Kidney	kidney
41	chr15:100272400-100274200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr15:100272400-100274200	Active TSS	Ovary	ovary
43	chr15:100272400-100274200	Active TSS	NHDF-Ad	bronchial
44	chr15:100272400-100274400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:100272600-100273200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr15:100272600-100273200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr15:100272600-100273200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:100272600-100273200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr15:100272600-100273200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr15:100272600-100273200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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