Variant report

Variant	rs373438240
Chromosome Location	chr15:31507874-31507875
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	CTCF	chr15:31506590-31508289	A549	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
2	UBTF	chr15:31507803-31508074	K562	blood:	n/a	n/a
3	CTCF	chr15:31507740-31507890	AG04450	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
4	CTCF	chr15:31507623-31507949	GM19240	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
5	SMC3	chr15:31506778-31509180	Hela-S3	cervix:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
6	MAX	chr15:31506693-31509050	HepG2	liver:	n/a	n/a
7	CTCF	chr15:31507760-31507910	HCT-116	colon:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
8	RAD21	chr15:31507517-31508166	HCT-116	colon:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808 chr15:31507617-31507630
9	CTCF	chr15:31507647-31507925	K562	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
10	RAD21	chr15:31507620-31508000	GM12878	blood:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808
11	CTCF	chr15:31507740-31507890	NHDF-neo	bronchial:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
12	NR3C1	chr15:31507660-31508937	A549	lung:	n/a	chr15:31508016-31508029
13	MXI1	chr15:31507645-31508019	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr15:31507635-31508330	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:31506705-31509296	GM12892	blood:	n/a	n/a
16	GATA1	chr15:31507749-31508237	PBDE	blood:	n/a	n/a
17	RAD21	chr15:31507592-31508021	H1-hESC	embryonic stem cell:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808 chr15:31507617-31507630
18	JUND	chr15:31507730-31507890	K562	blood:	n/a	chr15:31507806-31507815
19	POLR2A	chr15:31506770-31509334	GM12878	blood:	n/a	n/a
20	NFIC	chr15:31507559-31507976	GM12878	blood:	n/a	n/a
21	CTCF	chr15:31507740-31507890	RPTEC	kidney:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
22	CTCF	chr15:31507545-31507989	K562	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
23	CTCF	chr15:31507645-31507940	Gliobla	brain:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
24	POLR2A	chr15:31507755-31508008	HepG2	liver:	n/a	n/a
25	RAD21	chr15:31507594-31508054	GM12878	blood:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808 chr15:31507617-31507630
26	ELF1	chr15:31507667-31507903	K562	blood:	n/a	n/a
27	PAX5	chr15:31507820-31508121	GM12892	blood:	n/a	chr15:31508085-31508094 chr15:31508079-31508096
28	EP300	chr15:31507685-31508266	GM12878	blood:	n/a	chr15:31508223-31508232 chr15:31508162-31508178
29	MAX	chr15:31507583-31508438	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFIC	chr15:31507608-31508978	ECC-1	luminal epithelium:	n/a	n/a
31	RELA	chr15:31507596-31509026	GM15510	blood:	n/a	n/a
32	MAZ	chr15:31507622-31508973	HepG2	liver:	n/a	n/a
33	E2F4	chr15:31507731-31507931	GM12878	blood:	n/a	chr15:31507810-31507819
34	POLR2A	chr15:31506781-31508367	GM12892	blood:	n/a	n/a
35	SMC3	chr15:31506875-31509137	SK-N-SH	brain:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
36	MAX	chr15:31507627-31508284	MCF-7	breast:	n/a	n/a
37	CREB1	chr15:31507607-31508387	A549	lung:	n/a	n/a
38	CTCF	chr15:31507740-31507890	AG09309	skin:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
39	YY1	chr15:31507560-31508361	GM12892	blood:	n/a	chr15:31507808-31507819 chr15:31507798-31507809 chr15:31507810-31507819 chr15:31507801-31507815 chr15:31508155-31508166 chr15:31508225-31508234 chr15:31508049-31508058 chr15:31507810-31507824 chr15:31508220-31508234
40	RAD21	chr15:31507628-31507971	K562	blood:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808
41	POLR2A	chr15:31506745-31509203	GM15510	blood:	n/a	n/a
42	HEY1	chr15:31507683-31508366	HepG2	liver:	n/a	chr15:31508047-31508062 chr15:31508154-31508169 chr15:31507797-31507812 chr15:31508159-31508174
43	CTCF	chr15:31507740-31507890	HRPEpiC	eye:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
44	YY1	chr15:31507572-31508075	H1-hESC	embryonic stem cell:	n/a	chr15:31507808-31507819 chr15:31507798-31507809 chr15:31507810-31507819 chr15:31507801-31507815 chr15:31508049-31508058 chr15:31507810-31507824
45	CTCF	chr15:31507644-31507936	Pancreas_OC	pancreas:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
46	CTCF	chr15:31507631-31507949	GM19238	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
47	CTCF	chr15:31507655-31507933	MCF-7	breast:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
48	POLR2A	chr15:31507811-31508180	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr15:31507615-31508992	HCT-116	colon:	n/a	n/a
50	CTCF	chr15:31507665-31507935	LNCaP	prostate:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:31507824-31507874	HRE	kidney:	n/a
2	chr15:31507824-31507874	AG09319	gingival:	n/a
3	chr15:31507824-31507874	HCM	heart:	n/a
4	chr15:31507824-31507874	T-47D	breast:	n/a
5	chr15:31507824-31507874	AG04449	skin:	fetal
6	chr15:31507824-31507874	HCF	heart:	n/a
7	chr15:31507824-31507874	PANC-1	pancreas:	n/a
8	chr15:31507824-31507874	NT2-D1	testis:	n/a
9	chr15:31507824-31507874	ECC-1	luminal epithelium:	n/a
10	chr15:31507824-31507874	HL-60	blood:	n/a
11	chr15:31507824-31507874	HRCEpiC	kidney:	n/a
12	chr15:31507824-31507874	HAEpiC	amniotic membrane:	n/a
13	chr15:31507824-31507874	NB4	blood:	n/a
14	chr15:31507824-31507874	HUVEC	blood vessel:	n/a
15	chr15:31507824-31507874	K562	blood:	n/a
16	chr15:31507824-31507874	AG04450	lung:	fetal
17	chr15:31507824-31507874	LNCaP	prostate:	n/a
18	chr15:31507824-31507874	BE2_C	brain:	n/a
19	chr15:31507824-31507874	CMK	blood:	n/a
20	chr15:31507824-31507874	H1-hESC	embryonic stem cell:	embryo
21	chr15:31507824-31507874	SK-N-SH_RA	brain:	n/a
22	chr15:31507824-31507874	HCT-116	colon:	n/a
23	chr15:31507824-31507874	SKMC	muscle:	n/a
24	chr15:31507824-31507874	Caco-2	colon:	n/a
25	chr15:31507824-31507874	BJ	skin:	n/a
26	chr15:31507824-31507874	AG10803	skin:	n/a
27	chr15:31507824-31507874	NH-A	brain:	n/a
28	chr15:31507824-31507874	SAEC	small airway:	n/a
29	chr15:31507824-31507874	GM12891	blood:	n/a
30	chr15:31507824-31507874	GM12892	blood:	n/a
31	chr15:31507824-31507874	GM19239	blood:	n/a
32	chr15:31507824-31507874	SK-N-SH	brain:	n/a
33	chr15:31507824-31507874	NHDF-neo	bronchial:	n/a
34	chr15:31507824-31507874	AG09309	skin:	n/a
35	chr15:31507824-31507874	HEK293	kidney:	embryo
36	chr15:31507824-31507874	HMEC	breast:	n/a
37	chr15:31507824-31507874	HCPEpiC	choroid plexus:	n/a
38	chr15:31507824-31507874	MCF-7	breast:	n/a
39	chr15:31507824-31507874	Jurkat	blood:	n/a
40	chr15:31507824-31507874	HRPEpiC	eye:	n/a
41	chr15:31507824-31507874	AoSMC	blood vessel:	n/a
42	chr15:31507824-31507874	HepG2	liver:	n/a
43	chr15:31507824-31507874	NHBE	bronchial:	n/a
44	chr15:31507824-31507874	ProgFib	skin:	n/a
45	chr15:31507824-31507874	HNPCEpiC	eye:	n/a
46	chr15:31507824-31507874	RPTEC	kidney:	n/a
47	chr15:31507824-31507874	ovcar-3	ovarian:	n/a
48	chr15:31507824-31507874	A549	lung:	n/a
49	chr15:31507824-31507874	SK-N-MC	brain:	n/a
50	chr15:31507824-31507874	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:31507074..31509248-chr15:31619187..31621529,2	MCF-7	breast:
2	chr14:70826031..70826820-chr15:31507572..31508481,2	Hela-S3	cervix:
3	chr15:31507500..31508054-chr15:31782035..31782545,2	K562	blood:
4	chr15:31507690..31508326-chr15:31619594..31620115,2	MCF-7	breast:
5	chr15:31507329..31508126-chr3:9438102..9438856,3	Hela-S3	cervix:
6	chr15:31507734..31509504-chr15:31521434..31524217,2	MCF-7	breast:
7	chr15:31507836..31508445-chr16:87350927..87351475,2	Hela-S3	cervix:
8	chr10:70091473..70092098-chr15:31507734..31508495,2	Hela-S3	cervix:
9	chr10:123474380..123475190-chr15:31507516..31508220,2	MCF-7	breast:
10	chr15:31507333..31508207-chr15:31618137..31618644,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF13-1	chr15:31507869-31508240	NONHSAT041425

Variant related genes	Relation type
ENSG00000259448	TF binding region
ENSG00000259448	CpG island
ENSG00000270006	Chromatin interaction
ENSG00000260456	Chromatin interaction
ENSG00000169926	Chromatin interaction
ENSG00000259772	Chromatin interaction
ENSG00000096746	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000133983	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv903836	chr15:31330280-31512652	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	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
12	nsv903839	chr15:31495113-31576677	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	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
14	esv3389877	chr15:31506685-31509233	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31506400-31508000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr15:31506400-31508000	Flanking Active TSS	Fetal Thymus	thymus
3	chr15:31506600-31509400	Enhancers	Fetal Heart	heart
4	chr15:31506800-31509200	Enhancers	Fetal Brain Male	brain
5	chr15:31507000-31509000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr15:31507200-31508000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr15:31507200-31508200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:31507200-31508200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:31507200-31508200	Flanking Active TSS	HMEC	breast
10	chr15:31507400-31508000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr15:31507400-31508000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr15:31507400-31508000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr15:31507400-31508000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr15:31507400-31508200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr15:31507400-31508200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr15:31507400-31508600	Active TSS	Fetal Brain Female	brain
17	chr15:31507400-31508800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr15:31507400-31508800	Active TSS	Rectal Smooth Muscle	rectum
19	chr15:31507400-31508800	Flanking Active TSS	Dnd41	blood
20	chr15:31507400-31509200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr15:31507600-31508000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:31507600-31508000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:31507600-31508000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr15:31507600-31508200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:31507600-31508200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr15:31507600-31508400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:31507600-31508600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:31507600-31508600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr15:31507600-31508600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:31507600-31508600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:31507600-31508600	Active TSS	Brain Cingulate Gyrus	brain
32	chr15:31507600-31508600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:31507600-31508600	Weak transcription	Fetal Lung	lung
34	chr15:31507600-31508600	Weak transcription	Stomach Mucosa	stomach
35	chr15:31507600-31508600	Active TSS	NHEK	skin
36	chr15:31507600-31508800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr15:31507600-31508800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:31507600-31508800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr15:31507600-31508800	Active TSS	Brain Anterior Caudate	brain
40	chr15:31507600-31508800	Active TSS	Hela-S3	cervix
41	chr15:31507600-31508800	Active TSS	HepG2	liver
42	chr15:31507600-31509000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr15:31507600-31509000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:31507600-31509000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr15:31507600-31509200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr15:31507600-31509400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:31507800-31508000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:31507800-31508000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:31507800-31508000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr15:31507800-31508000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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