Variant report

Variant	rs16956422
Chromosome Location	chr15:31270758-31270759
allele	A/C
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	JUND	chr15:31270525-31270911	K562	blood:	n/a	n/a
2	BHLHE40	chr15:31270517-31270851	K562	blood:	n/a	n/a
3	IRF1	chr15:31270495-31271052	K562	blood:	n/a	chr15:31270661-31270673
4	POLR2A	chr15:31270409-31270944	K562	blood:	n/a	n/a
5	TRIM28	chr15:31270540-31270868	K562	blood:	n/a	n/a
6	MYC	chr15:31270505-31270829	K562	blood:	n/a	n/a
7	TAL1	chr15:31270328-31271085	K562	blood:	n/a	chr15:31270660-31270668
8	STAT5A	chr15:31270449-31270971	K562	blood:	n/a	n/a
9	RCOR1	chr15:31270455-31270965	K562	blood:	n/a	n/a
10	GATA1	chr15:31270287-31271016	PBDE	blood:	n/a	chr15:31270660-31270667 chr15:31270653-31270674 chr15:31270711-31270718 chr15:31270656-31270669 chr15:31270660-31270667 chr15:31270660-31270667
11	MAX	chr15:31270627-31270827	K562	blood:	n/a	n/a
12	STAT5A	chr15:31270381-31271015	K562	blood:	n/a	chr15:31270410-31270417
13	GATA2	chr15:31270455-31270949	K562	blood:	n/a	chr15:31270660-31270667 chr15:31270653-31270674 chr15:31270711-31270718 chr15:31270656-31270669 chr15:31270660-31270667 chr15:31270660-31270667
14	TEAD4	chr15:31270410-31271048	K562	blood:	n/a	n/a
15	POLR2A	chr15:31270454-31270945	K562	blood:	n/a	n/a
16	PML	chr15:31270433-31271050	K562	blood:	n/a	n/a
17	TEAD4	chr15:31270362-31271049	K562	blood:	n/a	n/a
18	MEF2A	chr15:31270472-31271023	K562	blood:	n/a	chr15:31270795-31270806 chr15:31270796-31270805
19	HDAC2	chr15:31270465-31270815	K562	blood:	n/a	n/a
20	NR2F2	chr15:31270395-31270964	K562	blood:	n/a	n/a
21	POLR2A	chr15:31270505-31270864	K562	blood:	n/a	n/a
22	GATA1	chr15:31270517-31270863	PBDEFetal	blood:	n/a	chr15:31270660-31270667 chr15:31270653-31270674 chr15:31270711-31270718 chr15:31270656-31270669 chr15:31270660-31270667 chr15:31270660-31270667
23	GATA2	chr15:31270504-31270884	K562	blood:	n/a	chr15:31270660-31270667 chr15:31270653-31270674 chr15:31270711-31270718 chr15:31270656-31270669 chr15:31270660-31270667 chr15:31270660-31270667
24	TBL1XR1	chr15:31270540-31270903	K562	blood:	n/a	n/a
25	REST	chr15:31270552-31270850	K562	blood:	n/a	n/a
26	RCOR1	chr15:31270454-31271040	K562	blood:	n/a	n/a
27	ARID3A	chr15:31270433-31270976	K562	blood:	n/a	n/a
28	TRIM28	chr15:31270424-31271030	K562	blood:	n/a	n/a
29	CEBPB	chr15:31270497-31270839	K562	blood:	n/a	n/a
30	GATA2	chr15:31270407-31271023	K562	blood:	n/a	chr15:31270660-31270667 chr15:31270653-31270674 chr15:31270711-31270718 chr15:31270656-31270669 chr15:31270660-31270667 chr15:31270660-31270667
31	ATF1	chr15:31270562-31270957	K562	blood:	n/a	n/a
32	NR2F2	chr15:31270495-31271011	K562	blood:	n/a	n/a
33	CEBPD	chr15:31270487-31271020	K562	blood:	n/a	n/a
34	PML	chr15:31270398-31271022	K562	blood:	n/a	n/a
35	CEBPD	chr15:31270431-31270924	K562	blood:	n/a	n/a
36	MYC	chr15:31270500-31270944	K562	blood:	n/a	n/a
37	GATA1	chr15:31270291-31271123	K562	blood:	n/a	chr15:31270660-31270667 chr15:31270653-31270674 chr15:31270711-31270718 chr15:31270656-31270669 chr15:31270660-31270667 chr15:31270660-31270667
38	TBL1XR1	chr15:31270517-31271023	K562	blood:	n/a	n/a
39	MEF2A	chr15:31270420-31271056	K562	blood:	n/a	chr15:31270795-31270806 chr15:31270796-31270805
40	GABPA	chr15:31270517-31270867	K562	blood:	n/a	n/a
41	MYC	chr15:31270601-31270764	K562	blood:	n/a	n/a
42	IRF1	chr15:31270522-31270919	K562	blood:	n/a	chr15:31270661-31270673
43	CCNT2	chr15:31270415-31270920	K562	blood:	n/a	n/a
44	GATA3	chr15:31270675-31270898	SH-SY5Y	brain:	n/a	chr15:31270711-31270718
45	EP300	chr15:31270487-31271021	K562	blood:	n/a	n/a
46	ZMIZ1	chr15:31270512-31270942	K562	blood:	n/a	n/a
47	POLR2A	chr15:31270701-31270782	ProgFib	skin:	n/a	n/a
48	TBP	chr15:31270595-31270774	K562	blood:	n/a	n/a
49	EP300	chr15:31270478-31270916	K562	blood:	n/a	n/a
50	GATA2	chr15:31270610-31270798	SH-SY5Y	brain:	n/a	chr15:31270660-31270667 chr15:31270653-31270674 chr15:31270711-31270718 chr15:31270656-31270669 chr15:31270660-31270667 chr15:31270660-31270667

No.	Distal block	Cell Line	Cell type
1	chr15:31270091..31272253-chr15:31273667..31275260,2	K562	blood:
2	chr15:31264761..31266293-chr15:31269997..31271907,2	K562	blood:
3	chr15:31269911..31273536-chr15:31281736..31285109,4	MCF-7	breast:
4	chr15:31270091..31272111-chr15:31273760..31276399,2	K562	blood:
5	chr15:31269600..31272390-chr15:31276376..31278340,2	K562	blood:

Variant related genes	Relation type
MTMR10	TF binding region
ENSG00000166912	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10163148	0.83[CHB][hapmap]
rs10519726	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs11070678	0.83[CHB][hapmap]
rs1133642	0.82[CHB][hapmap]
rs12437677	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12441456	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12442021	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442333	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs12442823	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1474381	0.83[CHB][hapmap]
rs1474382	0.83[CHB][hapmap]
rs16956341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap]
rs16956362	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs16956366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16956414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16956460	0.87[ASN][1000 genomes]
rs17815804	0.94[CHD][hapmap]
rs2113945	0.83[CHB][hapmap];0.94[CHD][hapmap]
rs2272218	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs2272219	0.83[CHB][hapmap]
rs2293319	0.83[CHB][hapmap]
rs2293320	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs28487996	0.89[ASN][1000 genomes]
rs28693590	0.83[CHB][hapmap]
rs2949575	0.83[CHB][hapmap]
rs2949576	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs2949578	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs2955787	0.83[CHB][hapmap]
rs2955791	0.83[CHB][hapmap]
rs2959049	0.83[CHB][hapmap]
rs36042462	0.91[ASN][1000 genomes]
rs3743231	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs3743232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784588	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4779796	0.83[CHB][hapmap]
rs4779797	0.83[CHB][hapmap]
rs6493358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7161812	0.82[CHB][hapmap]
rs7164939	1.00[CHB][hapmap]
rs7169064	0.83[CHB][hapmap]
rs7175354	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7175951	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs7176351	0.83[CHB][hapmap]
rs7178375	0.83[CHB][hapmap]
rs7178533	0.83[CHB][hapmap]
rs73368444	0.91[ASN][1000 genomes]
rs8041717	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs871312	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap]
rs872843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs964925	0.91[CHB][hapmap]
rs9806159	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
17	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
18	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 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	chr15:31242000-31282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:31245000-31276400	Weak transcription	Brain Germinal Matrix	brain
3	chr15:31248800-31283000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:31249000-31276000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:31250200-31282200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:31250800-31282400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:31251200-31272400	Weak transcription	Aorta	Aorta
8	chr15:31251200-31277200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:31251200-31282400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:31251600-31282200	Weak transcription	Hela-S3	cervix
11	chr15:31252000-31272200	Weak transcription	Spleen	Spleen
12	chr15:31252800-31282400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:31254600-31276400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:31254600-31277200	Weak transcription	HSMMtube	muscle
15	chr15:31254800-31272000	Weak transcription	Esophagus	oesophagus
16	chr15:31255200-31276800	Weak transcription	Fetal Brain Female	brain
17	chr15:31255400-31271600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:31255600-31277000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:31255800-31277000	Weak transcription	Fetal Intestine Small	intestine
20	chr15:31255800-31277000	Weak transcription	Fetal Stomach	stomach
21	chr15:31256000-31282400	Weak transcription	Fetal Brain Male	brain
22	chr15:31257800-31271400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:31258200-31277000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:31258200-31277800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:31258400-31272400	Weak transcription	Pancreas	Pancrea
26	chr15:31258400-31277000	Weak transcription	Gastric	stomach
27	chr15:31258800-31271200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:31258800-31271800	Weak transcription	Thymus	Thymus
29	chr15:31258800-31273400	Weak transcription	Lung	lung
30	chr15:31259600-31274800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:31262200-31282200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:31262400-31277200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:31262400-31277200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:31264000-31271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:31264000-31271800	Weak transcription	NHLF	lung
36	chr15:31264400-31274400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:31265600-31276800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:31265600-31277000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:31265800-31275200	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:31266000-31271200	Weak transcription	Psoas Muscle	Psoas
41	chr15:31266000-31271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:31266000-31271800	Weak transcription	Fetal Kidney	kidney
43	chr15:31266000-31272400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:31266000-31277000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:31266400-31271800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:31266400-31278000	Weak transcription	Colonic Mucosa	Colon
47	chr15:31266600-31271800	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:31266600-31275000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:31266600-31277400	Weak transcription	Osteobl	bone
50	chr15:31267200-31272400	Weak transcription	HepG2	liver

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