Variant report

Variant	rs74026504
Chromosome Location	chr15:75801650-75801651
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	CTCF	chr15:75801065-75801658	K562	blood:	n/a	chr15:75801461-75801470
2	RAD21	chr15:75801246-75801671	ECC-1	luminal epithelium:	n/a	n/a
3	RAD21	chr15:75801175-75801704	A549	lung:	n/a	n/a
4	RAD21	chr15:75801109-75801861	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr15:75801239-75801695	MCF-7	breast:	n/a	n/a
6	CTCF	chr15:75801163-75801797	HCT-116	colon:	n/a	chr15:75801461-75801470
7	CTCF	chr15:75801197-75801735	A549	lung:	n/a	chr15:75801461-75801470
8	CTCF	chr15:75801560-75801710	A549	lung:	n/a	n/a
9	RAD21	chr15:75801212-75801815	HCT-116	colon:	n/a	n/a
10	SMC3	chr15:75801271-75801651	Hela-S3	cervix:	n/a	chr15:75801460-75801474
11	CTCF	chr15:75801006-75801851	A549	lung:	n/a	chr15:75801461-75801470
12	CTCF	chr15:75801166-75801687	MCF-7	breast:	n/a	chr15:75801461-75801470
13	RAD21	chr15:75801244-75801692	HepG2	liver:	n/a	n/a
14	RAD21	chr15:75801264-75801666	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr15:75801187-75801765	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:75801100-75801871	SK-N-SH	brain:	n/a	chr15:75801461-75801470
17	RAD21	chr15:75801272-75801669	IMR90	lung:	n/a	n/a
18	CTCF	chr15:75801171-75801689	MCF-7	breast:	n/a	chr15:75801461-75801470
19	RAD21	chr15:75801178-75801756	A549	lung:	n/a	n/a
20	CTCF	chr15:75801255-75801662	HepG2	liver:	n/a	chr15:75801461-75801470
21	CTCF	chr15:75801251-75801654	IMR90	lung:	n/a	chr15:75801461-75801470
22	CTCF	chr15:75801265-75801682	K562	blood:	n/a	chr15:75801461-75801470
23	SMC3	chr15:75801086-75801856	SK-N-SH	brain:	n/a	chr15:75801460-75801474

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75799580..75804058-chr15:75932687..75934537,4	MCF-7	breast:
2	chr15:75801019..75801846-chr15:75975674..75976616,2	MCF-7	breast:

Variant related genes	Relation type
PTPN9	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11556266	1.00[AMR][1000 genomes]
rs56318551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56993051	1.00[AMR][1000 genomes]
rs58761842	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61135277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023974	1.00[AMR][1000 genomes]
rs74023990	1.00[AMR][1000 genomes]
rs74023995	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023998	1.00[AMR][1000 genomes]
rs74026511	1.00[AMR][1000 genomes]
rs74026512	1.00[AMR][1000 genomes]
rs74026514	1.00[AMR][1000 genomes]
rs8029793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
11	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv904390	chr15:75795177-75840943	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75777200-75816800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75777600-75812000	Weak transcription	Small Intestine	intestine
3	chr15:75780200-75812200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:75782600-75815200	Weak transcription	K562	blood
5	chr15:75785600-75814200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:75790000-75814200	Weak transcription	Psoas Muscle	Psoas
7	chr15:75797200-75801800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:75797800-75801800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:75797800-75801800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:75797800-75801800	Strong transcription	Fetal Brain Female	brain
11	chr15:75797800-75802000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:75797800-75802000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:75797800-75802000	Strong transcription	Fetal Muscle Leg	muscle
14	chr15:75797800-75803200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:75797800-75806200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:75797800-75819600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:75797800-75819600	Strong transcription	Fetal Stomach	stomach
18	chr15:75797800-75820000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:75798400-75805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:75798400-75824800	Weak transcription	Stomach Mucosa	stomach
21	chr15:75798400-75825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:75798600-75807600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:75798600-75818800	Weak transcription	Fetal Heart	heart
24	chr15:75798800-75820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:75799000-75802000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:75799000-75804600	Weak transcription	Brain Substantia Nigra	brain
27	chr15:75799000-75813200	Weak transcription	Aorta	Aorta
28	chr15:75799200-75805200	Weak transcription	HepG2	liver
29	chr15:75799200-75812800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:75799200-75814000	Weak transcription	Fetal Brain Male	brain
31	chr15:75799200-75814800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:75799400-75803600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:75799400-75804800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:75799400-75805200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:75799400-75805200	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:75799400-75805200	Weak transcription	Ovary	ovary
37	chr15:75799400-75805200	Weak transcription	Thymus	Thymus
38	chr15:75799400-75805600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:75799400-75805800	Weak transcription	Gastric	stomach
40	chr15:75799400-75807600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:75799400-75808800	Weak transcription	Fetal Kidney	kidney
42	chr15:75799400-75809400	Weak transcription	Primary B cells from cord blood	blood
43	chr15:75799400-75809600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:75799400-75809600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:75799400-75812200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:75799400-75814200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:75799400-75814200	Weak transcription	Pancreas	Pancrea
48	chr15:75799400-75818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr15:75799400-75819400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:75799400-75821800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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