Variant report

Variant	rs12902234
Chromosome Location	chr15:31684284-31684285
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	TEAD4	chr15:31683930-31684382	ECC-1	luminal epithelium:	n/a	n/a
2	CTBP2	chr15:31684181-31684752	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr15:31684260-31684410	Caco-2	colon:	n/a	n/a
4	RCOR1	chr15:31684139-31684747	K562	blood:	n/a	n/a
5	CTCF	chr15:31684282-31684671	GM12892	blood:	n/a	chr15:31684562-31684575
6	GATA1	chr15:31684157-31684777	PBDE	blood:	n/a	chr15:31684442-31684451
7	HMGN3	chr15:31684192-31684799	K562	blood:	n/a	n/a
8	CREB1	chr15:31683966-31684819	A549	lung:	n/a	n/a
9	POLR2A	chr15:31684077-31684713	A549	lung:	n/a	n/a
10	POLR2A	chr15:31684176-31684803	U87	brain:	n/a	n/a
11	BACH1	chr15:31684087-31684895	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr15:31684260-31684410	HEK293	kidney:	n/a	n/a
13	SIN3A	chr15:31684001-31684880	H1-hESC	embryonic stem cell:	n/a	chr15:31684309-31684322 chr15:31684496-31684505 chr15:31684134-31684145
14	POLR2A	chr15:31684100-31684672	A549	lung:	n/a	n/a
15	CTCF	chr15:31684260-31684410	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr15:31684282-31684684	GM19239	blood:	n/a	chr15:31684562-31684575
17	POLR2A	chr15:31684182-31684797	U87	brain:	n/a	n/a
18	ZNF263	chr15:31684055-31684699	HEK293-T-REx	kidney:	n/a	n/a
19	MAX	chr15:31683882-31684859	A549	lung:	n/a	chr15:31684495-31684504
20	CTCF	chr15:31684260-31684410	WERI-Rb-1	eye:	n/a	n/a
21	TBP	chr15:31684278-31684645	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr15:31684232-31684432	HepG2	liver:	n/a	n/a
23	JUND	chr15:31683971-31684613	A549	lung:	n/a	n/a
24	ZBTB7A	chr15:31683823-31684987	ECC-1	luminal epithelium:	n/a	chr15:31684363-31684372
25	ZBTB7A	chr15:31683914-31685012	ECC-1	luminal epithelium:	n/a	chr15:31684363-31684372
26	TEAD4	chr15:31683882-31684342	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr15:31684161-31684745	Gliobla	brain:	n/a	n/a
28	CCNT2	chr15:31684077-31684718	K562	blood:	n/a	chr15:31684272-31684281
29	RAD21	chr15:31683975-31684764	IMR90	lung:	n/a	chr15:31684312-31684326 chr15:31684184-31684197 chr15:31684369-31684381 chr15:31684362-31684374
30	MAX	chr15:31683895-31684829	ECC-1	luminal epithelium:	n/a	chr15:31684495-31684504
31	POLR2A	chr15:31684279-31684719	ProgFib	skin:	n/a	n/a
32	TAF1	chr15:31683859-31684871	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr15:31683999-31684780	A549	lung:	n/a	n/a
34	UBTF	chr15:31684050-31684637	K562	blood:	n/a	n/a
35	MTA3	chr15:31684242-31684633	GM12878	blood:	n/a	n/a
36	ELF1	chr15:31683891-31684298	GM12878	blood:	n/a	chr15:31684173-31684185 chr15:31684015-31684027 chr15:31684205-31684217 chr15:31684172-31684181
37	POLR2A	chr15:31683967-31684790	IMR90	lung:	n/a	n/a
38	RCOR1	chr15:31683794-31684899	IMR90	lung:	n/a	n/a
39	POLR2A	chr15:31684053-31684314	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr15:31684260-31684733	A549	lung:	n/a	n/a
41	BHLHE40	chr15:31684274-31684815	K562	blood:	n/a	chr15:31684493-31684506 chr15:31684496-31684505
42	MAX	chr15:31684199-31684683	K562	blood:	n/a	chr15:31684495-31684504
43	CTCF	chr15:31684280-31684430	AG04449	skin:	n/a	n/a
44	CHD1	chr15:31683886-31684914	IMR90	lung:	n/a	chr15:31684024-31684034
45	CTCF	chr15:31684280-31684430	AG09319	gingival:	n/a	n/a
46	TCF12	chr15:31684082-31684654	A549	lung:	n/a	chr15:31684256-31684266 chr15:31684255-31684262
47	POLR2A	chr15:31683894-31684754	ECC-1	luminal epithelium:	n/a	n/a
48	RUNX3	chr15:31684244-31684560	GM12878	blood:	n/a	n/a
49	CREB1	chr15:31684248-31684709	K562	blood:	n/a	n/a
50	CTCF	chr15:31684280-31684430	GM12870	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:

Variant related genes	Relation type
KLF13	TF binding region
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10459614	0.86[ASN][1000 genomes]
rs10851544	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10851545	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11630067	0.82[ASN][1000 genomes]
rs11630485	0.82[ASN][1000 genomes]
rs11631345	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11636300	0.86[ASN][1000 genomes]
rs11638964	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11639133	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441543	0.92[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs12441765	0.82[ASN][1000 genomes]
rs12594811	0.82[ASN][1000 genomes]
rs12910502	0.82[ASN][1000 genomes]
rs12912800	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34482222	0.86[ASN][1000 genomes]
rs4346167	0.81[ASN][1000 genomes]
rs4558376	0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4606678	0.95[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs4613031	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4779523	0.92[ASN][1000 genomes]
rs4779525	0.86[ASN][1000 genomes]
rs4779526	0.82[ASN][1000 genomes]
rs59970767	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6493652	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7165900	0.81[ASN][1000 genomes]
rs7170922	0.81[ASN][1000 genomes]
rs7171667	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7174902	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7402977	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs7496920	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs8030771	0.81[ASN][1000 genomes]
rs8035633	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8042404	0.93[ASN][1000 genomes]
rs8043195	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases
5	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv903842	chr15:31621321-31697242	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv456748	chr15:31621321-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv568801	chr15:31621321-31697642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1810782	chr15:31633161-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv903843	chr15:31672947-31723279	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv3423388	chr15:31682185-31685233	Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3341673	chr15:31682510-31685058	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31683400-31685400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr15:31683600-31685200	Active TSS	Right Ventricle	heart
3	chr15:31683600-31685400	Active TSS	NHEK	skin
4	chr15:31683800-31684400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:31683800-31684400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:31683800-31684400	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr15:31683800-31685000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:31683800-31685200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:31683800-31685200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:31683800-31685200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:31683800-31685200	Active TSS	Fetal Intestine Large	intestine
12	chr15:31683800-31685200	Active TSS	Left Ventricle	heart
13	chr15:31683800-31685200	Active TSS	Psoas Muscle	Psoas
14	chr15:31683800-31685400	Active TSS	Aorta	Aorta
15	chr15:31683800-31685400	Active TSS	Ovary	ovary
16	chr15:31683800-31685400	Active TSS	Right Atrium	heart
17	chr15:31683800-31685400	Active TSS	Small Intestine	intestine
18	chr15:31683800-31685600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr15:31683800-31685600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr15:31683800-31685800	Active TSS	Fetal Intestine Small	intestine
21	chr15:31684000-31684400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:31684000-31684400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:31684000-31684400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:31684000-31684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr15:31684000-31684400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:31684000-31684400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:31684000-31684400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr15:31684000-31684400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr15:31684000-31684400	Active TSS	Placenta	Placenta
30	chr15:31684000-31684400	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:31684000-31684400	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr15:31684000-31684600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:31684000-31684600	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr15:31684000-31684600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr15:31684000-31684600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr15:31684000-31684600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr15:31684000-31684600	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr15:31684000-31684800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:31684000-31684800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr15:31684000-31684800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
41	chr15:31684000-31685000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr15:31684000-31685000	Active TSS	Colonic Mucosa	Colon
43	chr15:31684000-31685000	Active TSS	A549	lung
44	chr15:31684000-31685000	Active TSS	Hela-S3	cervix
45	chr15:31684000-31685000	Active TSS	HSMM	muscle
46	chr15:31684000-31685000	Active TSS	HSMMtube	muscle
47	chr15:31684000-31685000	Active TSS	K562	blood
48	chr15:31684000-31685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:31684000-31685200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr15:31684000-31685200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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