Variant report

Variant	rs7181588
Chromosome Location	chr15:99975524-99975525
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	POLR2A	chr15:99975231-99976020	Hela-S3	cervix:	n/a	n/a
2	ESR1	chr15:99975260-99975614	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr15:99975085-99975801	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr15:99975521-99975524	MCF-7	breast:	n/a	n/a
5	EP300	chr15:99975083-99975888	ECC-1	luminal epithelium:	n/a	chr15:99975531-99975547
6	SMARCC1	chr15:99975135-99976448	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr15:99975080-99975804	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr15:99975126-99975878	ECC-1	luminal epithelium:	n/a	n/a
9	TFAP2C	chr15:99974859-99976024	Hela-S3	cervix:	n/a	chr15:99975680-99975695
10	MYC	chr15:99975464-99975589	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXM1	chr15:99975084-99975814	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr15:99975353-99975874	ECC-1	luminal epithelium:	n/a	n/a
13	ZBTB7A	chr15:99974973-99976093	ECC-1	luminal epithelium:	n/a	chr15:99975497-99975508
14	SMARCB1	chr15:99974945-99975988	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr15:99975349-99975826	Hela-S3	cervix:	n/a	n/a
16	MAX	chr15:99975293-99975787	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr15:99975341-99975881	HCT-116	colon:	n/a	n/a
18	STAT3	chr15:99975201-99975912	MCF10A-Er-Src	breast:	n/a	chr15:99975716-99975727 chr15:99975717-99975726 chr15:99975718-99975727 chr15:99975286-99975294
19	ESR1	chr15:99975328-99975684	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr15:99975495-99975859	Hela-S3	cervix:	n/a	n/a
21	SMC3	chr15:99975387-99975875	Hela-S3	cervix:	n/a	n/a
22	MYC	chr15:99975383-99975747	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:99975440-99975590	GM06990	blood:	n/a	n/a
24	STAT1	chr15:99975252-99976458	Hela-S3	cervix:	n/a	chr15:99975717-99975726 chr15:99975716-99975727 chr15:99976117-99976125 chr15:99975718-99975727 chr15:99975286-99975294
25	POLR2A	chr15:99975208-99975913	ECC-1	luminal epithelium:	n/a	n/a
26	TFAP2A	chr15:99975085-99975927	Hela-S3	cervix:	n/a	chr15:99975684-99975694 chr15:99975684-99975694 chr15:99975684-99975694 chr15:99975682-99975694 chr15:99975680-99975695 chr15:99975684-99975694
27	ZBTB7A	chr15:99974716-99976264	ECC-1	luminal epithelium:	n/a	chr15:99975497-99975508
28	MYC	chr15:99975337-99975643	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF12	chr15:99975068-99976164	ECC-1	luminal epithelium:	n/a	chr15:99975620-99975627
30	POLR2A	chr15:99975265-99975888	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:99975243-99975874	HCT-116	colon:	n/a	n/a
32	STAT3	chr15:99975369-99975896	MCF10A-Er-Src	breast:	n/a	chr15:99975716-99975727 chr15:99975717-99975726 chr15:99975718-99975727
33	TCF7L2	chr15:99975511-99975889	Hela-S3	cervix:	n/a	n/a
34	RCOR1	chr15:99975400-99975799	Hela-S3	cervix:	n/a	n/a
35	MYC	chr15:99975358-99975752	MCF10A-Er-Src	breast:	n/a	n/a
36	NR3C1	chr15:99975275-99975685	ECC-1	luminal epithelium:	n/a	chr15:99975643-99975656 chr15:99975384-99975397
37	POLR2A	chr15:99975483-99975696	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr15:99974939-99976137	ECC-1	luminal epithelium:	n/a	chr15:99975531-99975547
39	TCF12	chr15:99974860-99976094	ECC-1	luminal epithelium:	n/a	chr15:99975620-99975627
40	MAX	chr15:99975106-99975899	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:99973224..99976448-chr15:99991050..99995157,5	MCF-7	breast:
2	chr15:99971316..99975999-chr15:100104042..100107403,7	MCF-7	breast:
3	chr15:99972525..99976931-chr15:99986719..99991606,5	MCF-7	breast:
4	chr15:99974033..99977897-chr15:99978912..99982934,5	K562	blood:
5	chr15:99975316..99977266-chr15:99981293..99982934,2	K562	blood:

Variant related genes	Relation type
ENSG00000259341	TF binding region
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12050849	0.88[ASW][hapmap];0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4965492	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	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
12	nsv904547	chr15:99940221-99979159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv904548	chr15:99940221-99979418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv904549	chr15:99940221-99991506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv519800	chr15:99950772-99987109	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv904550	chr15:99954278-99978524	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv904551	chr15:99954278-99979418	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv904552	chr15:99954278-99982447	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv904553	chr15:99954278-99983175	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv904554	chr15:99956954-99979418	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv904555	chr15:99956954-99981269	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv904556	chr15:99956954-99987109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv904557	chr15:99956954-99991506	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv519319	chr15:99972661-99991506	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv570728	chr15:99973369-99986764	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99970000-99976800	Enhancers	Primary B cells from peripheral blood	blood
2	chr15:99971200-99978000	Enhancers	Spleen	Spleen
3	chr15:99971400-99978800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr15:99971400-99979200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr15:99971600-99978800	Enhancers	Primary T cells from cord blood	blood
6	chr15:99971800-99976400	Enhancers	Primary B cells from cord blood	blood
7	chr15:99972000-99976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:99972000-99976600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr15:99972200-99976200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr15:99972200-99978600	Enhancers	Fetal Thymus	thymus
11	chr15:99972400-99975800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:99972400-99977400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr15:99972600-99975600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr15:99972600-99976400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:99972600-99976600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr15:99972600-99977400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:99972600-99979000	Enhancers	Left Ventricle	heart
18	chr15:99972800-99976400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:99972800-99977800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:99972800-99978800	Enhancers	Lung	lung
21	chr15:99972800-99979000	Enhancers	Adipose Nuclei	Adipose
22	chr15:99973200-99976800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr15:99973200-99977000	Enhancers	Stomach Mucosa	stomach
24	chr15:99973400-99976200	Enhancers	Fetal Intestine Small	intestine
25	chr15:99973400-99978600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr15:99973600-99975800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:99973600-99976400	Enhancers	Fetal Lung	lung
28	chr15:99973800-99975600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:99973800-99975600	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:99973800-99977000	Weak transcription	Ovary	ovary
31	chr15:99973800-99978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:99973800-99978400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr15:99974000-99975600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:99974000-99976400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:99974000-99977600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr15:99974000-99977800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:99974000-99978200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:99974200-99975800	Weak transcription	Small Intestine	intestine
39	chr15:99974200-99976000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:99974200-99982000	Weak transcription	Gastric	stomach
41	chr15:99974200-99984000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:99974400-99975600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:99974400-99977400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:99974400-99979000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:99974400-99982000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:99974600-99976000	Flanking Active TSS	Colonic Mucosa	Colon
47	chr15:99974600-99976200	Flanking Active TSS	NHEK	skin
48	chr15:99974600-99977400	Bivalent Enhancer	Fetal Brain Male	brain
49	chr15:99974800-99975800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr15:99974800-99976000	Enhancers	Brain Inferior Temporal Lobe	brain

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