Variant report

Variant	rs1474381
Chromosome Location	chr15:31214991-31214992
allele	A/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	TAF1	chr15:31214651-31215273	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr15:31214073-31215289	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr15:31214689-31215246	H1-hESC	embryonic stem cell:	n/a	chr15:31215081-31215095
4	TEAD4	chr15:31214208-31215046	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr15:31214666-31215040	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr15:31214045-31215204	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chr15:31214767-31215225	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr15:31214112-31215212	H1-hESC	embryonic stem cell:	n/a	chr15:31214857-31214866
9	POLR2A	chr15:31214721-31215280	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:31214642-31215307	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr15:31214162-31215100	H1-hESC	embryonic stem cell:	n/a	chr15:31214763-31214784
12	RCOR1	chr15:31214072-31215386	IMR90	lung:	n/a	n/a
13	MAFK	chr15:31214350-31215175	H1-hESC	embryonic stem cell:	n/a	chr15:31214857-31214867
14	POLR2A	chr15:31214646-31215522	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOS	chr15:31214720-31214995	MCF10A-Er-Src	breast:	n/a	chr15:31214855-31214867 chr15:31214857-31214865 chr15:31214772-31214781 chr15:31214857-31214865 chr15:31214856-31214866 chr15:31214857-31214864
16	TEAD4	chr15:31214491-31214994	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr15:31214122-31215100	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr15:31214237-31215306	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr15:31214741-31215011	H1-hESC	embryonic stem cell:	n/a	n/a
20	STAT3	chr15:31214868-31214994	MCF10A-Er-Src	breast:	n/a	n/a
21	SP1	chr15:31214201-31215130	H1-hESC	embryonic stem cell:	n/a	chr15:31214763-31214784
22	POLR2A	chr15:31214659-31215261	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr15:31214900-31215050	RPTEC	kidney:	n/a	n/a
24	BACH1	chr15:31214151-31215187	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:31214652-31215173	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr15:31214094-31215227	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr15:31214225-31215482	H1-hESC	embryonic stem cell:	n/a	chr15:31214855-31214867 chr15:31214857-31214865 chr15:31214772-31214781 chr15:31214857-31214865 chr15:31214856-31214866 chr15:31214254-31214261 chr15:31214857-31214864
28	MAX	chr15:31214688-31215086	H1-hESC	embryonic stem cell:	n/a	chr15:31214857-31214866
29	FOS	chr15:31214769-31215036	MCF10A-Er-Src	breast:	n/a	chr15:31214855-31214867 chr15:31214857-31214865 chr15:31214772-31214781 chr15:31214857-31214865 chr15:31214856-31214866 chr15:31214857-31214864
30	CHD1	chr15:31214957-31215184	H1-hESC	embryonic stem cell:	n/a	n/a
31	GTF2F1	chr15:31214632-31215228	H1-hESC	embryonic stem cell:	n/a	n/a
32	EP300	chr15:31214476-31215031	H1-hESC	embryonic stem cell:	n/a	chr15:31214900-31214910 chr15:31214857-31214866
33	ATF2	chr15:31214380-31215021	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr15:31213957-31215286	H1-hESC	embryonic stem cell:	n/a	n/a
35	SP4	chr15:31214657-31215138	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000270015	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10163148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519726	0.83[CHB][hapmap]
rs11070678	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070718	0.92[CHB][hapmap]
rs1133642	0.91[CHB][hapmap]
rs11638295	0.92[CHB][hapmap]
rs11852466	0.83[CHB][hapmap]
rs12441318	0.85[CHB][hapmap]
rs12442333	0.82[CHB][hapmap]
rs12901022	0.92[CHB][hapmap]
rs12902792	0.92[CHB][hapmap]
rs12904967	0.92[CHB][hapmap]
rs12907055	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12911881	0.92[CHB][hapmap]
rs1404468	0.92[CHB][hapmap]
rs1404469	0.92[CHB][hapmap]
rs1474382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1483675	0.92[CHB][hapmap]
rs1524876	0.92[CHB][hapmap]
rs16956341	0.83[CHB][hapmap]
rs16956362	0.83[CHB][hapmap]
rs16956366	0.83[CHB][hapmap]
rs16956414	0.83[CHB][hapmap]
rs16956422	0.83[CHB][hapmap]
rs1809484	0.92[CHB][hapmap]
rs1880499	0.92[CHB][hapmap]
rs2042613	0.92[CHB][hapmap]
rs2113945	1.00[CHB][hapmap]
rs2113946	0.92[CHB][hapmap]
rs2272218	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272219	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2293319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2293320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2339048	0.83[ASN][1000 genomes]
rs28693590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2873	0.92[CHB][hapmap]
rs28881289	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2949569	0.92[CHB][hapmap]
rs2949570	0.92[CHB][hapmap]
rs2949573	0.92[CHB][hapmap]
rs2949575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2949576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2949577	0.92[CHB][hapmap]
rs2949578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2955783	0.92[CHB][hapmap]
rs2955787	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2955790	0.92[CHB][hapmap]
rs2955791	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2955796	0.85[CHB][hapmap]
rs2959039	0.85[CHB][hapmap]
rs2959049	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35162264	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35497908	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3743231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3784588	0.83[CHB][hapmap]
rs3794596	0.80[AFR][1000 genomes]
rs3964705	0.92[CHB][hapmap]
rs4779796	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4779797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493358	0.83[CHB][hapmap]
rs7161812	1.00[CHB][hapmap]
rs7164939	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7165798	0.92[CHB][hapmap]
rs7169064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7170710	0.92[CHB][hapmap]
rs7175951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7176351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182143	0.92[CHB][hapmap]
rs798101	0.85[CHB][hapmap]
rs8040989	0.92[CHB][hapmap]
rs8041717	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs871312	0.83[CHB][hapmap]
rs872843	0.83[CHB][hapmap]
rs9806159	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1474381	MTMR15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31196800-31215000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:31197000-31216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:31197400-31215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:31198200-31224000	Strong transcription	Dnd41	blood
5	chr15:31200200-31224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:31200400-31216200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:31200400-31221200	Strong transcription	Placenta	Placenta
8	chr15:31200400-31223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:31200400-31242200	Strong transcription	Primary T cells from cord blood	blood
10	chr15:31200600-31254800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:31201200-31224000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr15:31201200-31241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:31204200-31224000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr15:31204400-31223200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:31204400-31223200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:31204400-31223400	Strong transcription	Fetal Stomach	stomach
17	chr15:31204400-31223600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:31204400-31224000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr15:31204600-31223000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:31204600-31224000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:31205000-31224000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr15:31206000-31223200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:31206800-31223400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:31207400-31217600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:31208400-31216000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:31208400-31223800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:31208400-31224000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:31209000-31223200	Strong transcription	Esophagus	oesophagus
29	chr15:31209000-31223200	Strong transcription	Fetal Intestine Small	intestine
30	chr15:31209000-31224000	Strong transcription	Ovary	ovary
31	chr15:31210400-31217600	Strong transcription	Hela-S3	cervix
32	chr15:31210400-31222800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:31210600-31223400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:31211200-31216200	Weak transcription	Small Intestine	intestine
35	chr15:31211400-31215400	Weak transcription	K562	blood
36	chr15:31211800-31223000	Strong transcription	Rectal Smooth Muscle	rectum
37	chr15:31212000-31220200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr15:31212000-31223000	Strong transcription	Fetal Thymus	thymus
39	chr15:31212200-31219200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr15:31212200-31224000	Strong transcription	Fetal Intestine Large	intestine
41	chr15:31212200-31224000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:31212400-31219800	Strong transcription	HepG2	liver
43	chr15:31212400-31220200	Strong transcription	NHEK	skin
44	chr15:31212400-31223200	Strong transcription	Pancreas	Pancrea
45	chr15:31212600-31215000	Enhancers	Brain Hippocampus Middle	brain
46	chr15:31212600-31223400	Strong transcription	Thymus	Thymus
47	chr15:31212800-31215200	Enhancers	Fetal Heart	heart
48	chr15:31212800-31216200	Enhancers	Psoas Muscle	Psoas
49	chr15:31212800-31216400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr15:31212800-31217200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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