Variant report

Variant	rs12101376
Chromosome Location	chr15:51197608-51197609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:51197155-51197616	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr15:51197254-51197625	H1-neurons	neurons:	n/a	n/a
3	MAFK	chr15:51197363-51197650	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:51197587-51197637	CMK	blood:	n/a
2	chr15:51197587-51197637	SKMC	muscle:	n/a
3	chr15:51197587-51197637	ovcar-3	ovarian:	n/a
4	chr15:51197587-51197637	HRCEpiC	kidney:	n/a
5	chr15:51197587-51197637	IMR90	lung:	fetal
6	chr15:51197587-51197637	A549	lung:	n/a
7	chr15:51197587-51197637	NB4	blood:	n/a
8	chr15:51197587-51197637	MCF10A-Er-Src	breast:	n/a
9	chr15:51197587-51197637	HIPEpiC	eye:	n/a
10	chr15:51197587-51197637	AG04449	skin:	fetal
11	chr15:51197587-51197637	PANC-1	pancreas:	n/a
12	chr15:51197587-51197637	BJ	skin:	n/a
13	chr15:51197587-51197637	MCF-7	breast:	n/a
14	chr15:51197587-51197637	SAEC	small airway:	n/a
15	chr15:51197587-51197637	ECC-1	luminal epithelium:	n/a
16	chr15:51197587-51197637	PrEC	prostate:	n/a
17	chr15:51197587-51197637	HEEpiC	esophagus:	n/a
18	chr15:51197587-51197637	PFSK-1	brain:	n/a
19	chr15:51197587-51197637	HUVEC	blood vessel:	n/a
20	chr15:51197587-51197637	HNPCEpiC	eye:	n/a
21	chr15:51197587-51197637	Hepatocyte	liver:	n/a
22	chr15:51197587-51197637	RPTEC	kidney:	n/a
23	chr15:51197587-51197637	HCF	heart:	n/a
24	chr15:51197587-51197637	T-47D	breast:	n/a
25	chr15:51197587-51197637	H1-hESC	embryonic stem cell:	embryo
26	chr15:51197587-51197637	ProgFib	skin:	n/a
27	chr15:51197587-51197637	HCT-116	colon:	n/a
28	chr15:51197587-51197637	HRE	kidney:	n/a
29	chr15:51197587-51197637	AG10803	skin:	n/a
30	chr15:51197587-51197637	SK-N-MC	brain:	n/a
31	chr15:51197587-51197637	GM12891	blood:	n/a
32	chr15:51197587-51197637	AG04450	lung:	fetal
33	chr15:51197587-51197637	NT2-D1	testis:	n/a
34	chr15:51197587-51197637	GM12878	blood:	n/a
35	chr15:51197587-51197637	Caco-2	colon:	n/a
36	chr15:51197587-51197637	HL-60	blood:	n/a
37	chr15:51197587-51197637	K562	blood:	n/a
38	chr15:51197587-51197637	AoSMC	blood vessel:	n/a
39	chr15:51197587-51197637	U87	brain:	n/a
40	chr15:51197587-51197637	HCPEpiC	choroid plexus:	n/a
41	chr15:51197587-51197637	AG09309	skin:	n/a
42	chr15:51197587-51197637	HPAEpiC	pulmonary alveolar:	n/a
43	chr15:51197587-51197637	GM06990	blood:	n/a
44	chr15:51197587-51197637	HepG2	liver:	n/a
45	chr15:51197587-51197637	LNCaP	prostate:	n/a
46	chr15:51197587-51197637	GM12892	blood:	n/a
47	chr15:51197587-51197637	HRPEpiC	eye:	n/a
48	chr15:51197587-51197637	HMEC	breast:	n/a
49	chr15:51197587-51197637	HEK293	kidney:	embryo
50	chr15:51197587-51197637	NHBE	bronchial:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51183066..51185706-chr15:51196494..51200802,3	K562	blood:
2	chr15:51197121..51199959-chr15:51225911..51227445,2	MCF-7	breast:
3	chr15:50645261..50648746-chr15:51197475..51202828,11	MCF-7	breast:
4	chr15:51194715..51198170-chr15:51198476..51202244,9	K562	blood:
5	chr15:51190200..51192622-chr15:51197284..51200160,3	K562	blood:
6	chr15:51193148..51197721-chr15:51198982..51203175,7	K562	blood:
7	chr15:51191099..51192622-chr15:51197592..51200160,2	K562	blood:

No data

Variant related genes	Relation type
AP4E1	TF binding region
AP4E1	CpG island
ENSG00000081014	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12101535	1.00[AFR][1000 genomes]
rs12102250	1.00[AFR][1000 genomes]
rs28397739	1.00[AFR][1000 genomes]
rs28415694	1.00[AFR][1000 genomes]
rs28437695	1.00[AFR][1000 genomes]
rs28463775	1.00[AFR][1000 genomes]
rs28464432	1.00[AFR][1000 genomes]
rs28478740	1.00[AFR][1000 genomes]
rs28497053	1.00[AFR][1000 genomes]
rs28510866	1.00[AFR][1000 genomes]
rs28544375	1.00[AFR][1000 genomes]
rs28637248	1.00[AFR][1000 genomes]
rs28675179	1.00[AFR][1000 genomes]
rs28682435	1.00[AFR][1000 genomes]
rs28693451	1.00[AFR][1000 genomes]
rs28707532	1.00[AFR][1000 genomes]
rs28708725	1.00[AFR][1000 genomes]
rs28736316	1.00[AFR][1000 genomes]
rs28870167	1.00[AFR][1000 genomes]
rs28878017	1.00[AFR][1000 genomes]
rs9920041	1.00[AFR][1000 genomes]

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	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' 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
3	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
9	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv516168	chr15:51114437-51217361	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv569403	chr15:51191421-51304373	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
14	nsv1038778	chr15:51196641-51356728	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51177800-51199200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:51177800-51199600	Weak transcription	Ovary	ovary
3	chr15:51179000-51199200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:51183800-51199200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:51185800-51199800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:51187200-51199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:51187200-51199200	Weak transcription	Placenta	Placenta
8	chr15:51188400-51199200	Weak transcription	Fetal Lung	lung
9	chr15:51190000-51198800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:51191600-51199000	Weak transcription	Thymus	Thymus
11	chr15:51192000-51199200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:51193200-51199000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:51194200-51199200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:51194400-51199200	Weak transcription	Right Ventricle	heart
15	chr15:51194800-51200000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:51195000-51198800	Weak transcription	Primary T cells from cord blood	blood
17	chr15:51195000-51199000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:51195200-51198800	Weak transcription	Dnd41	blood
19	chr15:51195200-51199000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:51195200-51199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:51195400-51199000	Weak transcription	Fetal Intestine Small	intestine
22	chr15:51195400-51199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:51195400-51199600	Weak transcription	Fetal Stomach	stomach
24	chr15:51195600-51199600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:51195800-51199000	Weak transcription	K562	blood
26	chr15:51195800-51199200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:51196000-51199600	Weak transcription	Fetal Brain Female	brain
28	chr15:51196200-51198200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:51196200-51198800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:51196200-51198800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr15:51196200-51199200	Weak transcription	HSMM	muscle
32	chr15:51196200-51199200	Weak transcription	HUVEC	blood vessel
33	chr15:51196400-51198600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:51196400-51198600	Weak transcription	Fetal Thymus	thymus
35	chr15:51196400-51198800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:51196400-51198800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:51196600-51198400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:51196600-51199000	Weak transcription	Hela-S3	cervix
39	chr15:51196800-51199200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr15:51197200-51199400	Weak transcription	Fetal Intestine Large	intestine
41	chr15:51197400-51199200	Weak transcription	NHDF-Ad	bronchial
42	chr15:51197600-51199200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:51197600-51199600	Weak transcription	Brain Hippocampus Middle	brain

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