Variant report

Variant	rs7182313
Chromosome Location	chr15:99975900-99975901
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	POLR2A	chr15:99975231-99976020	Hela-S3	cervix:	n/a	n/a
2	SMARCC1	chr15:99975135-99976448	Hela-S3	cervix:	n/a	n/a
3	TFAP2C	chr15:99974859-99976024	Hela-S3	cervix:	n/a	chr15:99975680-99975695
4	ZBTB7A	chr15:99974973-99976093	ECC-1	luminal epithelium:	n/a	chr15:99975497-99975508
5	SMARCB1	chr15:99974945-99975988	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr15:99975201-99975912	MCF10A-Er-Src	breast:	n/a	chr15:99975716-99975727 chr15:99975717-99975726 chr15:99975718-99975727 chr15:99975286-99975294
7	CHD2	chr15:99975690-99975908	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr15:99975600-99975903	MCF10A-Er-Src	breast:	n/a	chr15:99975716-99975727 chr15:99975717-99975726 chr15:99975718-99975727
9	STAT1	chr15:99975252-99976458	Hela-S3	cervix:	n/a	chr15:99975717-99975726 chr15:99975716-99975727 chr15:99976117-99976125 chr15:99975718-99975727 chr15:99975286-99975294
10	POLR2A	chr15:99975208-99975913	ECC-1	luminal epithelium:	n/a	n/a
11	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
12	ZBTB7A	chr15:99974716-99976264	ECC-1	luminal epithelium:	n/a	chr15:99975497-99975508
13	TCF12	chr15:99975068-99976164	ECC-1	luminal epithelium:	n/a	chr15:99975620-99975627
14	EP300	chr15:99974939-99976137	ECC-1	luminal epithelium:	n/a	chr15:99975531-99975547
15	TCF12	chr15:99974860-99976094	ECC-1	luminal epithelium:	n/a	chr15:99975620-99975627

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	chr15:99975615..99977769-chr15:99978276..99979849,2	MCF-7	breast:
6	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: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11247094	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638998	0.80[EUR][1000 genomes]
rs12050818	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903392	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909582	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545246	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1561864	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561866	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561868	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2119939	0.95[ASN][1000 genomes]
rs28393358	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463528	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862151	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4965234	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4965235	0.87[ASN][1000 genomes]
rs4965489	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4965490	0.81[ASN][1000 genomes]
rs4965493	0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs6598247	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598248	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598249	0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs7162570	0.80[ASN][1000 genomes]
rs7162817	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7165066	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7167464	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169461	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7169660	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170529	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028527	0.85[ASN][1000 genomes]
rs8032786	0.81[EUR][1000 genomes]
rs894416	0.81[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:100 , 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	chr15:99972400-99977400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:99972600-99976400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr15:99972600-99976600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr15:99972600-99977400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr15:99972600-99979000	Enhancers	Left Ventricle	heart
16	chr15:99972800-99976400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:99972800-99977800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:99972800-99978800	Enhancers	Lung	lung
19	chr15:99972800-99979000	Enhancers	Adipose Nuclei	Adipose
20	chr15:99973200-99976800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr15:99973200-99977000	Enhancers	Stomach Mucosa	stomach
22	chr15:99973400-99976200	Enhancers	Fetal Intestine Small	intestine
23	chr15:99973400-99978600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr15:99973600-99976400	Enhancers	Fetal Lung	lung
25	chr15:99973800-99977000	Weak transcription	Ovary	ovary
26	chr15:99973800-99978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:99973800-99978400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr15:99974000-99976400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:99974000-99977600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:99974000-99977800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:99974000-99978200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:99974200-99976000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:99974200-99982000	Weak transcription	Gastric	stomach
34	chr15:99974200-99984000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:99974400-99977400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:99974400-99979000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:99974400-99982000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:99974600-99976000	Flanking Active TSS	Colonic Mucosa	Colon
39	chr15:99974600-99976200	Flanking Active TSS	NHEK	skin
40	chr15:99974600-99977400	Bivalent Enhancer	Fetal Brain Male	brain
41	chr15:99974800-99976000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr15:99974800-99976400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr15:99974800-99976400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr15:99974800-99976600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr15:99974800-99976600	Bivalent Enhancer	Placenta	Placenta
46	chr15:99974800-99977600	Weak transcription	NHLF	lung
47	chr15:99974800-99978800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:99975000-99976000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:99975000-99976000	Enhancers	Pancreas	Pancrea
50	chr15:99975000-99976200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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