Variant report

Variant	rs1950502
Chromosome Location	chr14:24801635-24801636
allele	G/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	CTCF	chr14:24801500-24801650	A549	lung:	n/a	chr14:24801538-24801556
2	CEBPB	chr14:24801359-24801760	K562	blood:	n/a	chr14:24801563-24801574 chr14:24801560-24801577
3	CHD1	chr14:24801281-24801944	IMR90	lung:	n/a	chr14:24801893-24801903
4	EP300	chr14:24801333-24801719	HepG2	liver:	n/a	chr14:24801446-24801460 chr14:24801564-24801578 chr14:24801444-24801458 chr14:24801445-24801459
5	SMC3	chr14:24801349-24801751	K562	blood:	n/a	n/a
6	RAD21	chr14:24801451-24801658	K562	blood:	n/a	n/a
7	CTCF	chr14:24801434-24801687	GM10266	blood:	n/a	chr14:24801538-24801556
8	POLR2A	chr14:24801536-24801841	HUVEC	blood vessel:	n/a	n/a
9	CEBPB	chr14:24801403-24801703	HepG2	liver:	n/a	chr14:24801563-24801574 chr14:24801560-24801577
10	BHLHE40	chr14:24801420-24801702	K562	blood:	n/a	n/a
11	MBD4	chr14:24801137-24802106	HepG2	liver:	n/a	n/a
12	MXI1	chr14:24801285-24802100	SK-N-SH	brain:	n/a	n/a
13	MAX	chr14:24801339-24802052	SK-N-SH	brain:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688
14	MYBL2	chr14:24800874-24802346	HepG2	liver:	n/a	n/a
15	CTCF	chr14:24801398-24801682	A549	lung:	n/a	chr14:24801538-24801556
16	CTCF	chr14:24801540-24801690	GM12878	blood:	n/a	n/a
17	MAX	chr14:24801422-24801933	K562	blood:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688
18	E2F6	chr14:24801374-24802242	H1-hESC	embryonic stem cell:	n/a	chr14:24801899-24801911 chr14:24801980-24801990 chr14:24801892-24801901
19	RAD21	chr14:24801278-24801783	A549	lung:	n/a	chr14:24801678-24801690
20	CTCF	chr14:24801500-24801650	SAEC	small airway:	n/a	chr14:24801538-24801556
21	CTCF	chr14:24801246-24801896	K562	blood:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
22	RAD21	chr14:24801359-24801720	GM12878	blood:	n/a	chr14:24801678-24801690
23	MAX	chr14:24801390-24801843	GM12878	blood:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688
24	RAD21	chr14:24801401-24801785	H1-hESC	embryonic stem cell:	n/a	chr14:24801678-24801690
25	RAD21	chr14:24801335-24801711	SK-N-SH_RA	brain:	n/a	chr14:24801678-24801690
26	CTCF	chr14:24801436-24801697	MCF-7	breast:	n/a	chr14:24801538-24801556
27	IRF4	chr14:24801269-24801752	GM12878	blood:	n/a	n/a
28	RCOR1	chr14:24801014-24802039	IMR90	lung:	n/a	n/a
29	NFIC	chr14:24801179-24801870	HepG2	liver:	n/a	n/a
30	CEBPB	chr14:24801455-24801679	K562	blood:	n/a	chr14:24801563-24801574 chr14:24801560-24801577
31	JUN	chr14:24801405-24801682	HepG2	liver:	n/a	chr14:24801564-24801577
32	MAX	chr14:24801439-24802063	A549	lung:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688
33	CTCF	chr14:24801381-24801679	HepG2	liver:	n/a	chr14:24801538-24801556
34	CTCF	chr14:24801270-24801756	A549	lung:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
35	POLR2A	chr14:24801336-24801788	HL-60	blood:	n/a	n/a
36	CTCF	chr14:24801452-24801899	GM10248	blood:	n/a	chr14:24801538-24801556
37	POLR2A	chr14:24800848-24802400	HUVEC	blood vessel:	n/a	n/a
38	SIN3A	chr14:24801244-24802326	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMC3	chr14:24801331-24801740	HepG2	liver:	n/a	n/a
40	RAD21	chr14:24801336-24801755	HepG2	liver:	n/a	chr14:24801678-24801690
41	MAX	chr14:24801327-24802227	ECC-1	luminal epithelium:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688
42	CTCF	chr14:24801500-24801650	GM12872	blood:	n/a	chr14:24801538-24801556
43	CEBPB	chr14:24801380-24801830	H1-hESC	embryonic stem cell:	n/a	chr14:24801563-24801574 chr14:24801560-24801577
44	CTCF	chr14:24801212-24801666	H1-hESC	embryonic stem cell:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
45	CTCF	chr14:24801329-24801700	A549	lung:	n/a	chr14:24801538-24801556
46	ELF1	chr14:24801383-24801674	K562	blood:	n/a	n/a
47	CTCF	chr14:24801312-24801748	K562	blood:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
48	CTCF	chr14:24801500-24801650	GM12873	blood:	n/a	chr14:24801538-24801556
49	CEBPB	chr14:24801367-24801761	K562	blood:	n/a	chr14:24801563-24801574 chr14:24801560-24801577
50	FOS	chr14:24801497-24801743	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24801616-24801666	RPTEC	kidney:	n/a
2	chr14:24801616-24801666	NB4	blood:	n/a
3	chr14:24801616-24801666	AG09309	skin:	n/a
4	chr14:24801616-24801666	U87	brain:	n/a
5	chr14:24801616-24801666	HL-60	blood:	n/a
6	chr14:24801616-24801666	HNPCEpiC	eye:	n/a
7	chr14:24801616-24801666	PANC-1	pancreas:	n/a
8	chr14:24801616-24801666	A549	lung:	n/a
9	chr14:24801616-24801666	H1-hESC	embryonic stem cell:	embryo
10	chr14:24801616-24801666	HCF	heart:	n/a
11	chr14:24801616-24801666	HUVEC	blood vessel:	n/a
12	chr14:24801616-24801666	HRE	kidney:	n/a
13	chr14:24801616-24801666	HCT-116	colon:	n/a
14	chr14:24801616-24801666	SK-N-SH	brain:	n/a
15	chr14:24801616-24801666	Jurkat	blood:	n/a
16	chr14:24801616-24801666	SKMC	muscle:	n/a
17	chr14:24801616-24801666	LNCaP	prostate:	n/a
18	chr14:24801616-24801666	GM12891	blood:	n/a
19	chr14:24801616-24801666	NT2-D1	testis:	n/a
20	chr14:24801616-24801666	CMK	blood:	n/a
21	chr14:24801616-24801666	HMEC	breast:	n/a
22	chr14:24801616-24801666	MCF10A-Er-Src	breast:	n/a
23	chr14:24801616-24801666	AoSMC	blood vessel:	n/a
24	chr14:24801616-24801666	HEEpiC	esophagus:	n/a
25	chr14:24801616-24801666	HEK293	kidney:	embryo
26	chr14:24801616-24801666	GM12878	blood:	n/a
27	chr14:24801616-24801666	PFSK-1	brain:	n/a
28	chr14:24801616-24801666	T-47D	breast:	n/a
29	chr14:24801616-24801666	Hela-S3	cervix:	n/a
30	chr14:24801616-24801666	K562	blood:	n/a
31	chr14:24801616-24801666	GM12892	blood:	n/a
32	chr14:24801616-24801666	HRCEpiC	kidney:	n/a
33	chr14:24801616-24801666	MCF-7	breast:	n/a
34	chr14:24801616-24801666	AG04450	lung:	fetal
35	chr14:24801616-24801666	IMR90	lung:	fetal
36	chr14:24801616-24801666	HCPEpiC	choroid plexus:	n/a
37	chr14:24801616-24801666	HCM	heart:	n/a
38	chr14:24801616-24801666	NH-A	brain:	n/a
39	chr14:24801616-24801666	Caco-2	colon:	n/a
40	chr14:24801616-24801666	ProgFib	skin:	n/a
41	chr14:24801616-24801666	BE2_C	brain:	n/a
42	chr14:24801616-24801666	NHDF-neo	bronchial:	n/a
43	chr14:24801616-24801666	AG10803	skin:	n/a
44	chr14:24801616-24801666	BJ	skin:	n/a
45	chr14:24801616-24801666	AG09319	gingival:	n/a
46	chr14:24801616-24801666	HIPEpiC	eye:	n/a
47	chr14:24801616-24801666	HAEpiC	amniotic membrane:	n/a
48	chr14:24801616-24801666	HepG2	liver:	n/a
49	chr14:24801616-24801666	HRPEpiC	eye:	n/a
50	chr14:24801616-24801666	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24801495..24803055-chr14:24833652..24836395,3	MCF-7	breast:
2	chr14:24790689..24792926-chr14:24801432..24803084,2	MCF-7	breast:
3	chr14:24562501..24566419-chr14:24801112..24803821,3	MCF-7	breast:
4	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
5	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
6	chr14:24709884..24713728-chr14:24799730..24804763,6	MCF-7	breast:
7	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
8	chr14:24684839..24685415-chr14:24801060..24801658,2	K562	blood:
9	chr14:24682382..24684800-chr14:24800505..24802328,2	K562	blood:
10	chr14:24768871..24772362-chr14:24798723..24803416,4	MCF-7	breast:
11	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
12	chr14:24801621..24803308-chr14:24901912..24903605,2	K562	blood:
13	chr14:24801289..24801981-chr14:24899000..24899921,2	K562	blood:
14	chr14:24800598..24804207-chr14:24909756..24912911,5	K562	blood:
15	chr14:24800528..24803981-chr14:24898784..24901810,5	K562	blood:
16	chr14:24655775..24658265-chr14:24801236..24803229,2	MCF-7	breast:
17	chr14:24801497..24802367-chr14:24834548..24835170,2	MCF-7	breast:

Variant related genes	Relation type
ADCY4	TF binding region
ADCY4	CpG island
ENSG00000129467	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000157379	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1884366	1.00[EUR][1000 genomes]
rs3212257	1.00[AMR][1000 genomes]
rs4366641	1.00[JPT][hapmap]
rs55970272	1.00[EUR][1000 genomes]
rs56003088	1.00[EUR][1000 genomes]
rs56126054	1.00[EUR][1000 genomes]
rs56314918	1.00[EUR][1000 genomes]
rs56377037	1.00[EUR][1000 genomes]
rs57646536	1.00[EUR][1000 genomes]
rs74036634	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24800400-24802200	Genic enhancers	Spleen	Spleen
2	chr14:24800800-24803000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:24801000-24801800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:24801000-24801800	Enhancers	Dnd41	blood
5	chr14:24801000-24802200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr14:24801000-24802200	Bivalent Enhancer	Fetal Heart	heart
7	chr14:24801000-24802200	Enhancers	Ovary	ovary
8	chr14:24801000-24802400	Enhancers	Lung	lung
9	chr14:24801000-24802400	Enhancers	Pancreas	Pancrea
10	chr14:24801000-24803800	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr14:24801200-24801800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr14:24801200-24801800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr14:24801200-24801800	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr14:24801200-24801800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:24801200-24801800	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr14:24801200-24801800	Enhancers	NHDF-Ad	bronchial
17	chr14:24801200-24802000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr14:24801200-24802000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr14:24801200-24802200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr14:24801200-24802200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr14:24801200-24802400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:24801200-24802400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr14:24801200-24802400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr14:24801200-24802400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr14:24801200-24802400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:24801200-24802400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr14:24801200-24802400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr14:24801200-24803400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr14:24801200-24804800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:24801400-24801800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr14:24801400-24801800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr14:24801400-24801800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:24801400-24801800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
34	chr14:24801400-24801800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
35	chr14:24801400-24802000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:24801400-24802000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr14:24801400-24802000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:24801400-24802000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:24801400-24802000	Enhancers	HUVEC	blood vessel
40	chr14:24801400-24802000	Flanking Active TSS	NHEK	skin
41	chr14:24801400-24802200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:24801400-24802200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr14:24801400-24802200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:24801400-24802200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr14:24801400-24802200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr14:24801400-24802200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
47	chr14:24801400-24802200	Flanking Active TSS	K562	blood
48	chr14:24801400-24802400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:24801400-24802400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr14:24801400-24804600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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