Variant report

Variant	rs192554824
Chromosome Location	chr15:31684084-31684085
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	STAT3	chr15:31683975-31684205	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
2	TEAD4	chr15:31683930-31684382	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr15:31683917-31684151	ECC-1	luminal epithelium:	n/a	n/a
4	STAT3	chr15:31683874-31684206	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
5	CREB1	chr15:31683966-31684819	A549	lung:	n/a	n/a
6	POLR2A	chr15:31684077-31684713	A549	lung:	n/a	n/a
7	POLR2A	chr15:31684063-31684194	A549	lung:	n/a	n/a
8	SIN3A	chr15:31684001-31684880	H1-hESC	embryonic stem cell:	n/a	chr15:31684309-31684322 chr15:31684496-31684505 chr15:31684134-31684145
9	ZNF263	chr15:31684055-31684699	HEK293-T-REx	kidney:	n/a	n/a
10	MAX	chr15:31683882-31684859	A549	lung:	n/a	chr15:31684495-31684504
11	JUND	chr15:31683971-31684613	A549	lung:	n/a	n/a
12	ZBTB7A	chr15:31683823-31684987	ECC-1	luminal epithelium:	n/a	chr15:31684363-31684372
13	ZBTB7A	chr15:31683914-31685012	ECC-1	luminal epithelium:	n/a	chr15:31684363-31684372
14	TEAD4	chr15:31683882-31684342	ECC-1	luminal epithelium:	n/a	n/a
15	CCNT2	chr15:31684077-31684718	K562	blood:	n/a	chr15:31684272-31684281
16	STAT3	chr15:31683899-31684201	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
17	RAD21	chr15:31683975-31684764	IMR90	lung:	n/a	chr15:31684312-31684326 chr15:31684184-31684197 chr15:31684369-31684381 chr15:31684362-31684374
18	MAX	chr15:31683895-31684829	ECC-1	luminal epithelium:	n/a	chr15:31684495-31684504
19	TAF1	chr15:31683859-31684871	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr15:31683999-31684780	A549	lung:	n/a	n/a
21	UBTF	chr15:31684050-31684637	K562	blood:	n/a	n/a
22	CTCF	chr15:31683960-31684110	BJ	skin:	n/a	chr15:31684022-31684035 chr15:31684022-31684035
23	ELF1	chr15:31683891-31684298	GM12878	blood:	n/a	chr15:31684173-31684185 chr15:31684015-31684027 chr15:31684205-31684217 chr15:31684172-31684181
24	POLR2A	chr15:31683967-31684790	IMR90	lung:	n/a	n/a
25	RCOR1	chr15:31683794-31684899	IMR90	lung:	n/a	n/a
26	POLR2A	chr15:31684053-31684314	HUVEC	blood vessel:	n/a	n/a
27	CHD1	chr15:31683886-31684914	IMR90	lung:	n/a	chr15:31684024-31684034
28	ESR1	chr15:31683931-31684170	ECC-1	luminal epithelium:	n/a	n/a
29	TCF12	chr15:31684082-31684654	A549	lung:	n/a	chr15:31684256-31684266 chr15:31684255-31684262
30	POLR2A	chr15:31683894-31684754	ECC-1	luminal epithelium:	n/a	n/a
31	E2F6	chr15:31683874-31684835	A549	lung:	n/a	chr15:31684175-31684184
32	RAD21	chr15:31683899-31684219	SK-N-SH_RA	brain:	n/a	chr15:31684184-31684197
33	MAZ	chr15:31683549-31685024	IMR90	lung:	n/a	chr15:31683612-31683622 chr15:31684495-31684504
34	CTCF	chr15:31683940-31684090	AG04449	skin:	n/a	chr15:31684022-31684035 chr15:31684022-31684035
35	MAX	chr15:31683850-31684931	A549	lung:	n/a	chr15:31684495-31684504
36	MXI1	chr15:31683925-31684914	IMR90	lung:	n/a	n/a
37	STAT3	chr15:31683878-31684228	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
38	E2F6	chr15:31683818-31684763	A549	lung:	n/a	chr15:31684175-31684184
39	STAT3	chr15:31683874-31684245	MCF10A-Er-Src	breast:	n/a	chr15:31684060-31684074 chr15:31684008-31684020 chr15:31684062-31684071 chr15:31684063-31684072 chr15:31684061-31684072
40	MXI1	chr15:31683883-31684920	SK-N-SH	brain:	n/a	n/a
41	EP300	chr15:31683930-31684182	SK-N-SH_RA	brain:	n/a	n/a
42	POLR2A	chr15:31683928-31684736	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr15:31683911-31684644	MCF10A-Er-Src	breast:	n/a	chr15:31684175-31684184

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:

Variant related genes	Relation type
KLF13	TF binding region
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv903842	chr15:31621321-31697242	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv456748	chr15:31621321-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv568801	chr15:31621321-31697642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1810782	chr15:31633161-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
13	nsv903843	chr15:31672947-31723279	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv3423388	chr15:31682185-31685233	Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3341673	chr15:31682510-31685058	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr15:31680400-31684200	Weak transcription	Spleen	Spleen
2	chr15:31680800-31684200	Weak transcription	Dnd41	blood
3	chr15:31683200-31684200	Weak transcription	Fetal Heart	heart
4	chr15:31683400-31685400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:31683600-31685200	Active TSS	Right Ventricle	heart
6	chr15:31683600-31685400	Active TSS	NHEK	skin
7	chr15:31683800-31684200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:31683800-31684200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:31683800-31684400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:31683800-31684400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:31683800-31684400	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr15:31683800-31685000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:31683800-31685200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr15:31683800-31685200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:31683800-31685200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:31683800-31685200	Active TSS	Fetal Intestine Large	intestine
17	chr15:31683800-31685200	Active TSS	Left Ventricle	heart
18	chr15:31683800-31685200	Active TSS	Psoas Muscle	Psoas
19	chr15:31683800-31685400	Active TSS	Aorta	Aorta
20	chr15:31683800-31685400	Active TSS	Ovary	ovary
21	chr15:31683800-31685400	Active TSS	Right Atrium	heart
22	chr15:31683800-31685400	Active TSS	Small Intestine	intestine
23	chr15:31683800-31685600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:31683800-31685600	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr15:31683800-31685800	Active TSS	Fetal Intestine Small	intestine
26	chr15:31684000-31684200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:31684000-31684200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:31684000-31684200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:31684000-31684200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:31684000-31684200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
31	chr15:31684000-31684200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr15:31684000-31684200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr15:31684000-31684200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr15:31684000-31684200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr15:31684000-31684200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:31684000-31684200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr15:31684000-31684200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:31684000-31684200	Active TSS	Adipose Nuclei	Adipose
39	chr15:31684000-31684200	Active TSS	Liver	Liver
40	chr15:31684000-31684200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr15:31684000-31684200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr15:31684000-31684200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr15:31684000-31684200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr15:31684000-31684200	Flanking Active TSS	GM12878-XiMat	blood
45	chr15:31684000-31684200	Flanking Active TSS	HepG2	liver
46	chr15:31684000-31684200	Active TSS	HMEC	breast
47	chr15:31684000-31684200	Active TSS	HUVEC	blood vessel
48	chr15:31684000-31684200	Active TSS	NH-A	brain
49	chr15:31684000-31684200	Active TSS	NHLF	lung
50	chr15:31684000-31684400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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