Variant report

Variant	rs3181252
Chromosome Location	chr14:24802018-24802019
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	chr14:24801900-24802318	HUVEC	blood vessel:	n/a	n/a
2	MBD4	chr14:24801137-24802106	HepG2	liver:	n/a	n/a
3	MXI1	chr14:24801285-24802100	SK-N-SH	brain:	n/a	n/a
4	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
5	ZBTB7A	chr14:24801887-24802084	K562	blood:	n/a	n/a
6	MYBL2	chr14:24800874-24802346	HepG2	liver:	n/a	n/a
7	CTCF	chr14:24801980-24802130	GM12864	blood:	n/a	n/a
8	E2F6	chr14:24801374-24802242	H1-hESC	embryonic stem cell:	n/a	chr14:24801899-24801911 chr14:24801980-24801990 chr14:24801892-24801901
9	RCOR1	chr14:24801014-24802039	IMR90	lung:	n/a	n/a
10	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
11	POLR2A	chr14:24800848-24802400	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr14:24801920-24802070	AG09319	gingival:	n/a	n/a
13	SIN3A	chr14:24801244-24802326	H1-hESC	embryonic stem cell:	n/a	n/a
14	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
15	RCOR1	chr14:24801980-24802332	K562	blood:	n/a	n/a
16	CHD2	chr14:24801560-24802167	H1-hESC	embryonic stem cell:	n/a	chr14:24801893-24801903
17	MAX	chr14:24801379-24802091	HepG2	liver:	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	CTCF	chr14:24801940-24802090	HCT-116	colon:	n/a	n/a
19	POLR2A	chr14:24801946-24802206	GM12878	blood:	n/a	n/a
20	MAX	chr14:24800815-24802487	HepG2	liver:	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 chr14:24801166-24801176
21	MAX	chr14:24801415-24802024	H1-hESC	embryonic stem cell:	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
22	TEAD4	chr14:24801979-24802304	K562	blood:	n/a	n/a
23	E2F6	chr14:24801475-24802176	K562	blood:	n/a	chr14:24801899-24801911 chr14:24801980-24801990 chr14:24801892-24801901
24	MAX	chr14:24801312-24802077	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
25	MAX	chr14:24801334-24802364	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
26	JUND	chr14:24801190-24802227	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr14:24801342-24802137	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
28	CTCF	chr14:24801117-24802171	SK-N-SH	brain:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
29	MXI1	chr14:24801376-24802153	HepG2	liver:	n/a	n/a
30	MAX	chr14:24801354-24802261	H1-hESC	embryonic stem cell:	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
31	POLR2A	chr14:24801913-24802268	K562	blood:	n/a	n/a
32	POLR2A	chr14:24801960-24802197	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr14:24801447-24802271	H1-hESC	embryonic stem cell:	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
34	CTCF	chr14:24801115-24802040	A549	lung:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
35	E2F6	chr14:24801065-24802261	H1-hESC	embryonic stem cell:	n/a	chr14:24801899-24801911 chr14:24801980-24801990 chr14:24801892-24801901
36	HMGN3	chr14:24801629-24802277	K562	blood:	n/a	n/a
37	MAX	chr14:24801266-24802438	HepG2	liver:	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
38	UBTF	chr14:24801648-24802295	K562	blood:	n/a	n/a
39	ELF1	chr14:24802016-24802244	K562	blood:	n/a	n/a
40	CTCF	chr14:24801940-24802090	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr14:24802000-24802150	GM12871	blood:	n/a	n/a
42	USF2	chr14:24801075-24802194	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr14:24801484-24802181	K562	blood:	n/a	chr14:24801899-24801911 chr14:24801980-24801990 chr14:24801892-24801901

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24801970-24802020	HNPCEpiC	eye:	n/a
2	chr14:24801970-24802020	NB4	blood:	n/a
3	chr14:24801970-24802020	GM12892	blood:	n/a
4	chr14:24801970-24802020	HCM	heart:	n/a
5	chr14:24801970-24802020	GM06990	blood:	n/a
6	chr14:24801970-24802020	HUVEC	blood vessel:	n/a
7	chr14:24801970-24802020	AG04449	skin:	fetal
8	chr14:24801970-24802020	HEK293	kidney:	embryo
9	chr14:24801970-24802020	AG04450	lung:	fetal
10	chr14:24801970-24802020	SK-N-MC	brain:	n/a
11	chr14:24801970-24802020	K562	blood:	n/a
12	chr14:24801970-24802020	ECC-1	luminal epithelium:	n/a
13	chr14:24801970-24802020	PANC-1	pancreas:	n/a
14	chr14:24801970-24802020	HPAEpiC	pulmonary alveolar:	n/a
15	chr14:24801970-24802020	HIPEpiC	eye:	n/a
16	chr14:24801970-24802020	Caco-2	colon:	n/a
17	chr14:24801970-24802020	GM12891	blood:	n/a
18	chr14:24801970-24802020	SKMC	muscle:	n/a
19	chr14:24801970-24802020	HRE	kidney:	n/a
20	chr14:24801970-24802020	NHBE	bronchial:	n/a
21	chr14:24801970-24802020	A549	lung:	n/a
22	chr14:24801970-24802020	BE2_C	brain:	n/a
23	chr14:24801970-24802020	NT2-D1	testis:	n/a
24	chr14:24801970-24802020	MCF10A-Er-Src	breast:	n/a
25	chr14:24801970-24802020	HCPEpiC	choroid plexus:	n/a
26	chr14:24801970-24802020	T-47D	breast:	n/a
27	chr14:24801970-24802020	NH-A	brain:	n/a
28	chr14:24801970-24802020	HepG2	liver:	n/a
29	chr14:24801970-24802020	CMK	blood:	n/a
30	chr14:24801970-24802020	Hepatocyte	liver:	n/a
31	chr14:24801970-24802020	HRCEpiC	kidney:	n/a
32	chr14:24801970-24802020	ProgFib	skin:	n/a
33	chr14:24801970-24802020	Hela-S3	cervix:	n/a
34	chr14:24801970-24802020	LNCaP	prostate:	n/a
35	chr14:24801970-24802020	SK-N-SH	brain:	n/a
36	chr14:24801970-24802020	HMEC	breast:	n/a
37	chr14:24801970-24802020	AG10803	skin:	n/a
38	chr14:24801970-24802020	NHDF-neo	bronchial:	n/a
39	chr14:24801970-24802020	ovcar-3	ovarian:	n/a
40	chr14:24801970-24802020	SK-N-SH_RA	brain:	n/a
41	chr14:24801970-24802020	AoSMC	blood vessel:	n/a
42	chr14:24801970-24802020	HCT-116	colon:	n/a
43	chr14:24801970-24802020	Jurkat	blood:	n/a
44	chr14:24801970-24802020	HL-60	blood:	n/a
45	chr14:24801970-24802020	HCF	heart:	n/a
46	chr14:24801970-24802020	HEEpiC	esophagus:	n/a
47	chr14:24801970-24802020	MCF-7	breast:	n/a
48	chr14:24801970-24802020	U87	brain:	n/a
49	chr14:24801970-24802020	H1-hESC	embryonic stem cell:	embryo
50	chr14:24801970-24802020	BJ	skin:	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	chr14:24682382..24684800-chr14:24800505..24802328,2	K562	blood:
9	chr14:24768871..24772362-chr14:24798723..24803416,4	MCF-7	breast:
10	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
11	chr14:24801621..24803308-chr14:24901912..24903605,2	K562	blood:
12	chr14:24801703..24804412-chr14:24880486..24883068,2	MCF-7	breast:
13	chr14:24800598..24804207-chr14:24909756..24912911,5	K562	blood:
14	chr14:24800528..24803981-chr14:24898784..24901810,5	K562	blood:
15	chr14:24655775..24658265-chr14:24801236..24803229,2	MCF-7	breast:
16	chr14:24801497..24802367-chr14:24834548..24835170,2	MCF-7	breast:

Variant related genes	Relation type
ADCY4	TF binding region
ADCY4	CpG island
ENSG00000092330	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000157379	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10139438	0.95[ASN][1000 genomes]
rs11844732	0.95[ASN][1000 genomes]
rs28531696	0.95[ASN][1000 genomes]
rs28769707	0.93[ASN][1000 genomes]
rs3181246	0.95[ASN][1000 genomes]
rs3181257	1.00[ASN][1000 genomes]
rs3212246	0.95[ASN][1000 genomes]
rs3212247	0.95[ASN][1000 genomes]
rs3212249	0.95[ASN][1000 genomes]
rs3212250	0.95[ASN][1000 genomes]
rs3212251	0.95[ASN][1000 genomes]
rs3212253	0.95[ASN][1000 genomes]
rs3212256	0.97[ASN][1000 genomes]
rs3759625	0.93[ASN][1000 genomes]
rs3759630	0.95[ASN][1000 genomes]
rs3759633	0.93[ASN][1000 genomes]
rs3759634	0.93[ASN][1000 genomes]
rs7146673	0.95[ASN][1000 genomes]
rs7146814	0.93[ASN][1000 genomes]
rs8009739	0.95[ASN][1000 genomes]
rs8010276	0.95[ASN][1000 genomes]
rs8010550	0.95[ASN][1000 genomes]
rs8014581	0.95[ASN][1000 genomes]
rs8014599	0.95[ASN][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:116 , 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	chr14:24801000-24802200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr14:24801000-24802200	Bivalent Enhancer	Fetal Heart	heart
5	chr14:24801000-24802200	Enhancers	Ovary	ovary
6	chr14:24801000-24802400	Enhancers	Lung	lung
7	chr14:24801000-24802400	Enhancers	Pancreas	Pancrea
8	chr14:24801000-24803800	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr14:24801200-24802200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:24801200-24802200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
11	chr14:24801200-24802400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr14:24801200-24802400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr14:24801200-24802400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr14:24801200-24802400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr14:24801200-24802400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:24801200-24802400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr14:24801200-24802400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr14:24801200-24803400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:24801200-24804800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:24801400-24802200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr14:24801400-24802200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:24801400-24802200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr14:24801400-24802200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr14:24801400-24802200	Bivalent Enhancer	Fetal Brain Male	brain
25	chr14:24801400-24802200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
26	chr14:24801400-24802200	Flanking Active TSS	K562	blood
27	chr14:24801400-24802400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:24801400-24802400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:24801400-24804600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr14:24801600-24802200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr14:24801600-24802200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:24801600-24802200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:24801600-24802200	Flanking Active TSS	Liver	Liver
39	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:24801600-24802200	Flanking Active TSS	Colonic Mucosa	Colon
42	chr14:24801600-24802200	Flanking Active TSS	Esophagus	oesophagus
43	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr14:24801600-24802200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr14:24801600-24802200	Flanking Active TSS	Gastric	stomach
48	chr14:24801600-24802200	Flanking Active TSS	Left Ventricle	heart
49	chr14:24801600-24802200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr14:24801600-24802200	Flanking Active TSS	Right Ventricle	heart

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