Variant report

Variant	rs60171235
Chromosome Location	chr15:42181082-42181083
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	SPI1	chr15:42180700-42181145	GM12878	blood:	n/a	chr15:42180959-42180972 chr15:42180961-42180970 chr15:42180960-42180973 chr15:42181004-42181017
2	SPI1	chr15:42180842-42181128	GM12891	blood:	n/a	chr15:42180959-42180972 chr15:42180961-42180970 chr15:42180960-42180973 chr15:42181004-42181017
3	SPI1	chr15:42180826-42181136	GM12878	blood:	n/a	chr15:42180959-42180972 chr15:42180961-42180970 chr15:42180960-42180973 chr15:42181004-42181017
4	SPI1	chr15:42180758-42181249	HL-60	blood:	n/a	chr15:42180959-42180972 chr15:42180961-42180970 chr15:42180960-42180973 chr15:42181004-42181017
5	MAX	chr15:42180841-42181241	NB4	blood:	n/a	n/a
6	SPI1	chr15:42180855-42181106	HL-60	blood:	n/a	chr15:42180959-42180972 chr15:42180961-42180970 chr15:42180960-42180973 chr15:42181004-42181017
7	EBF1	chr15:42180884-42181158	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42180442..42182824-chr15:42195792..42198246,2	K562	blood:
2	chr15:42169311..42172233-chr15:42179875..42182296,2	MCF-7	breast:
3	chr15:42179476..42182408-chr15:42189392..42190926,2	K562	blood:

Variant related genes	Relation type
ENSG00000174171	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1197681	0.91[ASN][1000 genomes]
rs1197682	0.91[ASN][1000 genomes]
rs1197684	0.92[ASN][1000 genomes]
rs1197686	0.94[ASN][1000 genomes]
rs1197693	0.92[ASN][1000 genomes]
rs1201691	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1212426	0.89[EUR][1000 genomes]
rs2008558	0.87[ASN][1000 genomes]
rs2271287	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280016	0.96[ASN][1000 genomes]
rs3784277	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784280	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55913027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60616708	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61505160	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs890496	0.95[ASN][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:52 , 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	chr15:42175600-42183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:42175600-42184200	Weak transcription	Pancreas	Pancrea
9	chr15:42175600-42185000	Weak transcription	Esophagus	oesophagus
10	chr15:42175600-42185000	Weak transcription	Gastric	stomach
11	chr15:42175600-42185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:42175800-42184200	Weak transcription	Right Ventricle	heart
13	chr15:42175800-42184800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:42175800-42186400	Weak transcription	HUVEC	blood vessel
15	chr15:42175800-42191000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:42175800-42191000	Weak transcription	Thymus	Thymus
17	chr15:42176000-42184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:42178000-42185000	Weak transcription	Fetal Intestine Small	intestine
19	chr15:42178000-42185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:42178400-42184000	Weak transcription	Liver	Liver
21	chr15:42179000-42183000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:42179200-42181200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:42179600-42184200	Weak transcription	HSMMtube	muscle
24	chr15:42179600-42184600	Weak transcription	Fetal Stomach	stomach
25	chr15:42179800-42181600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:42179800-42181800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:42179800-42182600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:42180000-42181400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr15:42180000-42182200	Enhancers	Primary B cells from peripheral blood	blood
30	chr15:42180200-42181400	Enhancers	Primary B cells from cord blood	blood
31	chr15:42180200-42181400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:42180200-42181400	Enhancers	Spleen	Spleen
33	chr15:42180200-42181600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:42180200-42181600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr15:42180200-42181600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:42180200-42182600	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:42180200-42184200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:42180400-42181200	Enhancers	GM12878-XiMat	blood
39	chr15:42180400-42181400	Enhancers	Primary T cells from cord blood	blood
40	chr15:42180400-42181400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr15:42180400-42181400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr15:42180400-42182000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr15:42180400-42182400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:42180600-42181400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr15:42180600-42181800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr15:42180600-42184600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:42180800-42181400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr15:42180800-42183600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:42180800-42183600	Weak transcription	Fetal Thymus	thymus
50	chr15:42181000-42181200	Enhancers	H1 Cell Line	embryonic stem cell

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