Variant report

Variant	rs26537
Chromosome Location	chr5:115177014-115177015
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	POLR2A	chr5:115176349-115179027	GM12891	blood:	n/a	n/a
2	TAF1	chr5:115176835-115178094	ECC-1	luminal epithelium:	n/a	n/a
3	YY1	chr5:115176933-115177729	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr5:115176866-115178062	GM12892	blood:	n/a	n/a
5	YY1	chr5:115176856-115177899	GM12891	blood:	n/a	chr5:115177854-115177868
6	PML	chr5:115176854-115178079	K562	blood:	n/a	n/a
7	GATA3	chr5:115176988-115178112	A549	lung:	n/a	n/a
8	MYC	chr5:115176953-115178540	NB4	blood:	n/a	chr5:115177631-115177641 chr5:115178002-115178010
9	HEY1	chr5:115176990-115177950	HepG2	liver:	n/a	chr5:115177565-115177580
10	POLR2A	chr5:115176913-115178246	K562	blood:	n/a	n/a
11	YY1	chr5:115176828-115177738	SK-N-SH_RA	brain:	n/a	n/a
12	POLR2A	chr5:115176806-115177873	K562	blood:	n/a	n/a
13	TBP	chr5:115176932-115177579	GM12878	blood:	n/a	n/a
14	TAF1	chr5:115176889-115177990	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:115176992-115177632	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:115176867-115178050	K562	blood:	n/a	n/a
17	GABPA	chr5:115176802-115177822	SK-N-SH	brain:	n/a	chr5:115177545-115177552 chr5:115177611-115177620
18	TBP	chr5:115176964-115178132	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYBL2	chr5:115177013-115177921	HepG2	liver:	n/a	n/a
20	TAF1	chr5:115176892-115177882	K562	blood:	n/a	n/a
21	NFIC	chr5:115176997-115177670	HepG2	liver:	n/a	n/a
22	SMARCC1	chr5:115176611-115178396	Hela-S3	cervix:	n/a	n/a
23	FOXA1	chr5:115177000-115178137	HepG2	liver:	n/a	n/a
24	BCL3	chr5:115176894-115177641	A549	lung:	n/a	n/a
25	TBP	chr5:115176857-115178334	K562	blood:	n/a	chr5:115178323-115178334
26	YY1	chr5:115176667-115178175	SK-N-SH	brain:	n/a	chr5:115177854-115177868 chr5:115178117-115178128 chr5:115178053-115178067
27	GATA3	chr5:115177012-115177961	MCF-7	breast:	n/a	n/a
28	JUN	chr5:115176898-115177587	K562	blood:	n/a	n/a
29	MYC	chr5:115176832-115178452	K562	blood:	n/a	chr5:115177631-115177641 chr5:115178002-115178010
30	POLR2A	chr5:115177014-115177904	ECC-1	luminal epithelium:	n/a	n/a
31	RELA	chr5:115176994-115177837	GM12892	blood:	n/a	n/a
32	MYC	chr5:115176465-115178356	A549	lung:	n/a	chr5:115177631-115177641 chr5:115178002-115178010
33	CEBPB	chr5:115177004-115177633	A549	lung:	n/a	n/a
34	MAZ	chr5:115176985-115178569	GM12878	blood:	n/a	chr5:115177631-115177641 chr5:115178002-115178010
35	POLR2A	chr5:115176890-115177999	HUVEC	blood vessel:	n/a	n/a
36	CEBPB	chr5:115176994-115177534	IMR90	lung:	n/a	n/a
37	CREB1	chr5:115176977-115177768	A549	lung:	n/a	n/a
38	NFATC1	chr5:115176995-115177571	GM12878	blood:	n/a	n/a
39	ZNF384	chr5:115177009-115177551	GM12878	blood:	n/a	n/a
40	GABPA	chr5:115176928-115177466	Hela-S3	cervix:	n/a	n/a
41	SP1	chr5:115176981-115177762	GM12878	blood:	n/a	chr5:115177592-115177605 chr5:115177576-115177585 chr5:115177576-115177590 chr5:115177576-115177585 chr5:115177575-115177587 chr5:115177576-115177586 chr5:115177565-115177574 chr5:115177575-115177587 chr5:115177590-115177599 chr5:115177566-115177575 chr5:115177576-115177586 chr5:115177577-115177586
42	CEBPB	chr5:115176968-115178030	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:115176947-115178058	H1-neurons	neurons:	n/a	n/a
44	NR2F2	chr5:115176723-115177679	K562	blood:	n/a	n/a
45	YY1	chr5:115176790-115177523	K562	blood:	n/a	n/a
46	RELA	chr5:115176967-115177831	GM10847	blood:	n/a	n/a
47	ELF1	chr5:115176981-115178018	K562	blood:	n/a	n/a
48	STAT3	chr5:115176991-115177410	MCF10A-Er-Src	breast:	n/a	chr5:115177159-115177180
49	POLR2A	chr5:115176963-115178472	HepG2	liver:	n/a	n/a
50	POLR2A	chr5:115176866-115178442	GM18526	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114878345..114880939-chr5:115175674..115177985,2	K562	blood:
2	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
3	chr4:100870905..100871510-chr5:115176773..115177440,2	NB4	blood:
4	chr5:115169299..115172365-chr5:115175271..115177908,3	MCF-7	breast:
5	chr5:114961758..114963636-chr5:115175834..115179975,3	K562	blood:
6	chr5:114961103..114964725-chr5:115175944..115179319,4	K562	blood:
7	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:
8	chr5:115149403..115152060-chr5:115175796..115178394,2	MCF-7	breast:
9	chr20:45985552..45988522-chr5:115176582..115178558,2	MCF-7	breast:
10	chr5:115166966..115169397-chr5:115175581..115178128,2	MCF-7	breast:
11	chr5:114959625..114963439-chr5:115175786..115178902,4	MCF-7	breast:
12	chr5:115175649..115178515-chr5:115418843..115420963,3	K562	blood:
13	chr5:114951313..114954001-chr5:115175629..115177171,2	MCF-7	breast:
14	chr5:114968611..114971610-chr5:115175867..115178509,3	MCF-7	breast:

Variant related genes	Relation type
ATG12	TF binding region
AP3S1	TF binding region
ENSG00000145781	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000145780	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000129596	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000145782	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10039749	0.88[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10434761	0.85[ASN][1000 genomes]
rs1058600	0.86[CHB][hapmap];0.89[CHD][hapmap];0.88[ASN][1000 genomes]
rs10751460	0.90[ASN][1000 genomes]
rs11241336	0.91[ASN][1000 genomes]
rs11241337	0.82[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12188972	0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12332653	0.82[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12513891	0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12514553	0.90[ASN][1000 genomes]
rs12517882	0.91[ASN][1000 genomes]
rs12519850	0.83[ASN][1000 genomes]
rs12520248	0.85[ASN][1000 genomes]
rs12520442	0.83[ASN][1000 genomes]
rs12523122	0.83[ASN][1000 genomes]
rs13157716	0.91[ASN][1000 genomes]
rs13174348	0.81[CHB][hapmap]
rs13179199	0.87[ASN][1000 genomes]
rs13361489	0.87[ASN][1000 genomes]
rs152368	0.82[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs152369	0.91[ASN][1000 genomes]
rs152397	0.82[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs152398	0.91[CEU][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154757	0.81[ASN][1000 genomes]
rs171809	0.90[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2080902	0.91[ASN][1000 genomes]
rs26529	0.86[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26531	0.86[CHB][hapmap];0.92[CHD][hapmap];0.83[ASN][1000 genomes]
rs26533	0.88[ASN][1000 genomes]
rs26534	0.90[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs26535	0.89[ASN][1000 genomes]
rs26536	0.95[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs26538	0.81[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34850	0.82[CHB][hapmap]
rs34851	0.86[ASN][1000 genomes]
rs34852	0.85[ASN][1000 genomes]
rs34869	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs35179959	0.88[ASN][1000 genomes]
rs35238578	0.86[ASN][1000 genomes]
rs35501287	0.92[ASN][1000 genomes]
rs35903246	0.85[ASN][1000 genomes]
rs3797565	0.84[ASN][1000 genomes]
rs3797567	0.86[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs3797568	0.86[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3797569	0.82[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3797570	0.90[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs40095	0.85[ASN][1000 genomes]
rs41332950	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4143542	0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs57633641	0.88[ASN][1000 genomes]
rs59750231	0.91[ASN][1000 genomes]
rs61381571	0.92[ASN][1000 genomes]
rs6594906	0.88[ASN][1000 genomes]
rs6872406	0.90[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6879485	0.89[ASN][1000 genomes]
rs6880372	0.81[ASN][1000 genomes]
rs6880889	0.90[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs71581217	0.83[ASN][1000 genomes]
rs7707539	0.90[ASN][1000 genomes]
rs7713314	0.92[ASN][1000 genomes]
rs7726368	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs26537	AP3S1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115174600-115180000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:115174800-115178600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:115175000-115178200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:115175000-115178800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:115175200-115178200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:115175200-115178400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:115175400-115178200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:115175400-115178400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:115175400-115178800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:115175600-115178000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:115175600-115178800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:115175600-115179000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:115175600-115179000	Active TSS	Placenta	Placenta
14	chr5:115175600-115179200	Active TSS	Right Ventricle	heart
15	chr5:115175600-115179400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:115175600-115180000	Active TSS	Stomach Smooth Muscle	stomach
17	chr5:115175600-115180200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:115175800-115178200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:115175800-115178600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:115175800-115178800	Active TSS	A549	lung
21	chr5:115175800-115178800	Active TSS	HSMM	muscle
22	chr5:115175800-115179000	Active TSS	Psoas Muscle	Psoas
23	chr5:115175800-115179000	Active TSS	NHDF-Ad	bronchial
24	chr5:115175800-115179600	Active TSS	Ovary	ovary
25	chr5:115176000-115177800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:115176000-115178600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:115176000-115178600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:115176000-115178600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr5:115176000-115178600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr5:115176000-115178600	Active TSS	Fetal Intestine Small	intestine
31	chr5:115176000-115178600	Active TSS	K562	blood
32	chr5:115176000-115178800	Active TSS	Fetal Intestine Large	intestine
33	chr5:115176000-115178800	Active TSS	Rectal Smooth Muscle	rectum
34	chr5:115176000-115178800	Active TSS	NHEK	skin
35	chr5:115176000-115179000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr5:115176000-115179000	Active TSS	HSMMtube	muscle
37	chr5:115176000-115179200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:115176000-115179600	Active TSS	GM12878-XiMat	blood
39	chr5:115176000-115180200	Active TSS	Right Atrium	heart
40	chr5:115176200-115177200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:115176200-115178600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr5:115176200-115178600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:115176200-115178600	Active TSS	Fetal Kidney	kidney
44	chr5:115176200-115178600	Active TSS	Lung	lung
45	chr5:115176200-115178600	Active TSS	Stomach Mucosa	stomach
46	chr5:115176200-115178800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:115176200-115178800	Active TSS	Pancreas	Pancrea
48	chr5:115176200-115179200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:115176400-115178400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:115176400-115178400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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