Variant report

Variant	rs188060640
Chromosome Location	chr15:100272818-100272819
allele	C/T
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	FOXA2	chr15:100272679-100272972	HepG2	liver:	n/a	n/a
2	BACH1	chr15:100272807-100274184	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr15:100272788-100274192	HepG2	liver:	n/a	n/a
4	E2F6	chr15:100272795-100273478	A549	lung:	n/a	n/a
5	NFYB	chr15:100272553-100272827	GM12878	blood:	n/a	n/a
6	MAZ	chr15:100272245-100274211	IMR90	lung:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
7	ZBTB7A	chr15:100272759-100273801	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr15:100272796-100274103	ECC-1	luminal epithelium:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
9	RCOR1	chr15:100272732-100274058	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr15:100272526-100272959	IMR90	lung:	n/a	chr15:100272604-100272615
11	SIN3A	chr15:100272525-100273744	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr15:100272666-100272830	MCF10A-Er-Src	breast:	n/a	n/a
13	ZBTB7A	chr15:100272754-100273773	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr15:100272719-100274219	A549	lung:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
15	POLR2A	chr15:100272567-100274201	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr15:100272232-100272847	H1-hESC	embryonic stem cell:	n/a	chr15:100272342-100272349
17	SPI1	chr15:100272731-100273015	GM12891	blood:	n/a	n/a
18	MAX	chr15:100272766-100274316	HepG2	liver:	n/a	chr15:100273829-100273839 chr15:100273091-100273101 chr15:100273030-100273039
19	NR2F2	chr15:100272776-100274258	MCF-7	breast:	n/a	chr15:100273347-100273362
20	SMARCB1	chr15:100272815-100273678	Hela-S3	cervix:	n/a	n/a
21	E2F6	chr15:100272732-100273471	H1-hESC	embryonic stem cell:	n/a	n/a
22	HCFC1	chr15:100272137-100274363	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr15:100272699-100273141	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr15:100272750-100274110	Hela-S3	cervix:	n/a	chr15:100273093-100273103
25	NR2C2	chr15:100272697-100273716	Hela-S3	cervix:	n/a	chr15:100273347-100273362 chr15:100273350-100273359 chr15:100273348-100273361 chr15:100273343-100273352 chr15:100273119-100273132
26	CHD2	chr15:100272747-100272946	GM12878	blood:	n/a	n/a

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

Variant related genes	Relation type
LYSMD4	TF binding region
ENSG00000168904	Chromatin interaction
ENSG00000103852	Chromatin interaction
ENSG00000068305	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	chr15:100271400-100273000	Flanking Active TSS	HMEC	breast
3	chr15:100271600-100273000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
4	chr15:100271600-100273000	Flanking Active TSS	NHEK	skin
5	chr15:100271600-100273200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:100271600-100274200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr15:100271800-100273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:100271800-100273000	Flanking Active TSS	Fetal Brain Female	brain
9	chr15:100271800-100273200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr15:100271800-100273400	Flanking Active TSS	Colonic Mucosa	Colon
11	chr15:100271800-100274200	Active TSS	Rectal Smooth Muscle	rectum
12	chr15:100272000-100273000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:100272000-100273000	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr15:100272000-100273000	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr15:100272000-100273200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr15:100272000-100273200	Flanking Active TSS	Dnd41	blood
17	chr15:100272000-100273600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr15:100272000-100274000	Active TSS	Colon Smooth Muscle	Colon
19	chr15:100272000-100274000	Active TSS	Fetal Intestine Small	intestine
20	chr15:100272000-100274200	Active TSS	NHLF	lung
21	chr15:100272200-100273000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:100272200-100273000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:100272200-100273000	Flanking Active TSS	Fetal Brain Male	brain
24	chr15:100272200-100273000	Flanking Active TSS	Fetal Thymus	thymus
25	chr15:100272200-100273000	Flanking Active TSS	Hela-S3	cervix
26	chr15:100272200-100273000	Flanking Active TSS	HUVEC	blood vessel
27	chr15:100272200-100273200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:100272200-100273200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:100272200-100273200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:100272200-100273200	Flanking Active TSS	NH-A	brain
31	chr15:100272200-100274000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr15:100272200-100274000	Active TSS	Fetal Stomach	stomach
33	chr15:100272200-100274000	Active TSS	Right Atrium	heart
34	chr15:100272200-100274000	Active TSS	Right Ventricle	heart
35	chr15:100272200-100274200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:100272200-100274200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:100272200-100274200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr15:100272400-100273000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr15:100272400-100273000	Flanking Active TSS	Liver	Liver
40	chr15:100272400-100273000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr15:100272400-100273000	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr15:100272400-100273000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:100272400-100273000	Flanking Active TSS	HepG2	liver
44	chr15:100272400-100273000	Flanking Active TSS	HSMMtube	muscle
45	chr15:100272400-100273200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr15:100272400-100273200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr15:100272400-100273200	Flanking Active TSS	Thymus	Thymus
48	chr15:100272400-100273200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr15:100272400-100273400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:100272400-100273400	Flanking Active TSS	Placenta	Placenta

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