Variant report

Variant	rs1648808
Chromosome Location	chr15:42184259-42184260
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	NFIC	chr15:42183898-42187893	ECC-1	luminal epithelium:	n/a	chr15:42184240-42184268
2	TCF12	chr15:42183882-42185783	ECC-1	luminal epithelium:	n/a	chr15:42184887-42184894 chr15:42184233-42184240 chr15:42184885-42184895 chr15:42185463-42185470
3	TEAD4	chr15:42183967-42185433	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr15:42183967-42185460	ECC-1	luminal epithelium:	n/a	chr15:42184240-42184268
5	MAX	chr15:42184045-42184602	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr15:42183856-42185543	ECC-1	luminal epithelium:	n/a	chr15:42184887-42184894 chr15:42184233-42184240 chr15:42184885-42184895 chr15:42185463-42185470
7	NR3C1	chr15:42184157-42184532	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr15:42184022-42184672	ECC-1	luminal epithelium:	n/a	n/a
9	NR3C1	chr15:42184158-42184407	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr15:42183882-42185555	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000174171	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1025227	1.00[EUR][1000 genomes]
rs1030417	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1197656	1.00[EUR][1000 genomes]
rs1197676	1.00[EUR][1000 genomes]
rs1197678	1.00[EUR][1000 genomes]
rs1197695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1197696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1197698	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1201692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1212426	0.88[AFR][1000 genomes]
rs12900408	1.00[EUR][1000 genomes]
rs1451047	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1530836	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1614205	1.00[EUR][1000 genomes]
rs1621597	0.82[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1648812	1.00[EUR][1000 genomes]
rs1648819	1.00[EUR][1000 genomes]
rs1648820	0.82[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1668566	1.00[EUR][1000 genomes]
rs1668590	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1668591	1.00[EUR][1000 genomes]
rs1704402	1.00[TSI][hapmap]
rs1704408	1.00[EUR][1000 genomes]
rs1704409	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2665209	1.00[EUR][1000 genomes]
rs2724932	1.00[EUR][1000 genomes]
rs57032192	1.00[EUR][1000 genomes]
rs6493009	1.00[EUR][1000 genomes]
rs73410628	1.00[EUR][1000 genomes]
rs747779	0.89[ASW][hapmap]
rs890497	1.00[EUR][1000 genomes]
rs890499	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs890500	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1038393	chr15:42083574-42188035	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	esv1827003	chr15:42087505-42199076	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1041645	chr15:42095168-42186482	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1051200	chr15:42095168-42188035	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv517631	chr15:42096926-42187492	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1051733	chr15:42098896-42186482	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1036153	chr15:42098896-42188035	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1048606	chr15:42101694-42192760	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
13	nsv904117	chr15:42103822-42184794	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
14	nsv904118	chr15:42103822-42207905	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
15	nsv904124	chr15:42109975-42207905	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
16	nsv9244	chr15:42110712-42208805	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
17	nsv904125	chr15:42119900-42210393	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
18	nsv1050892	chr15:42128855-42186482	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
20	nsv904127	chr15:42142912-42207905	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
21	nsv904128	chr15:42147639-42207905	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
22	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
23	nsv904129	chr15:42162957-42207905	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42141200-42191200	Weak transcription	Aorta	Aorta
2	chr15:42165400-42184800	Weak transcription	HMEC	breast
3	chr15:42174000-42186000	Weak transcription	HSMM	muscle
4	chr15:42174200-42186600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:42175000-42184600	Weak transcription	Right Atrium	heart
6	chr15:42175000-42186000	Weak transcription	Adipose Nuclei	Adipose
7	chr15:42175600-42185000	Weak transcription	Esophagus	oesophagus
8	chr15:42175600-42185000	Weak transcription	Gastric	stomach
9	chr15:42175600-42185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:42175800-42184800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:42175800-42186400	Weak transcription	HUVEC	blood vessel
12	chr15:42175800-42191000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:42175800-42191000	Weak transcription	Thymus	Thymus
14	chr15:42176000-42184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:42178000-42185000	Weak transcription	Fetal Intestine Small	intestine
16	chr15:42178000-42185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:42179600-42184600	Weak transcription	Fetal Stomach	stomach
18	chr15:42180600-42184600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:42181200-42184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:42181200-42186200	Weak transcription	GM12878-XiMat	blood
21	chr15:42181200-42186600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:42181400-42184600	Weak transcription	Primary B cells from cord blood	blood
23	chr15:42181400-42184600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr15:42181400-42184800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:42181400-42185000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:42181400-42185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:42181400-42185200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:42181400-42185400	Weak transcription	Spleen	Spleen
29	chr15:42181600-42184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:42181600-42184800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:42181800-42184600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:42182000-42184600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:42182400-42184600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:42182600-42186200	Weak transcription	Ovary	ovary
35	chr15:42182600-42187800	Enhancers	Fetal Muscle Leg	muscle
36	chr15:42182800-42185000	Enhancers	Fetal Muscle Trunk	muscle
37	chr15:42183000-42184400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:42183000-42185000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:42183200-42184400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:42183200-42184600	Enhancers	Stomach Smooth Muscle	stomach
41	chr15:42183600-42184600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:42183600-42186200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:42183600-42187000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:42183600-42191200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:42183600-42191400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:42183600-42195800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:42183600-42196000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:42183800-42184600	Weak transcription	Fetal Thymus	thymus
49	chr15:42183800-42186600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:42183800-42187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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