Variant report

Variant	rs11848386
Chromosome Location	chr14:24584263-24584264
allele	A/C
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	SIN3AK20	chr14:24583103-24584299	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr14:24583843-24584265	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXA1	chr14:24582726-24584713	HepG2	liver:	n/a	n/a
4	FOXM1	chr14:24583158-24584573	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:24582800-24584756	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr14:24583023-24584504	HepG2	liver:	n/a	n/a
7	IRF3	chr14:24583262-24584596	Hela-S3	cervix:	n/a	chr14:24584276-24584285 chr14:24583777-24583791 chr14:24583970-24583984
8	ZEB1	chr14:24584037-24584983	GM12878	blood:	n/a	n/a
9	USF1	chr14:24583551-24584447	A549	lung:	n/a	chr14:24584095-24584111
10	EGR1	chr14:24583965-24584624	ECC-1	luminal epithelium:	n/a	chr14:24584458-24584465 chr14:24584228-24584237 chr14:24584333-24584343 chr14:24584225-24584239 chr14:24584226-24584240 chr14:24584225-24584238 chr14:24583971-24583981 chr14:24584192-24584205 chr14:24584227-24584237 chr14:24584227-24584237
11	EGR1	chr14:24583897-24584380	GM12878	blood:	n/a	chr14:24584228-24584237 chr14:24584333-24584343 chr14:24584225-24584239 chr14:24584226-24584240 chr14:24584225-24584238 chr14:24583971-24583981 chr14:24584192-24584205 chr14:24584227-24584237 chr14:24584227-24584237
12	HEY1	chr14:24582533-24584782	HepG2	liver:	n/a	chr14:24584100-24584115
13	EGR1	chr14:24582877-24584800	HCT-116	colon:	n/a	chr14:24584458-24584465 chr14:24584228-24584237 chr14:24584333-24584343 chr14:24584225-24584239 chr14:24583243-24583257 chr14:24583339-24583363 chr14:24583293-24583306 chr14:24584226-24584240 chr14:24584225-24584238 chr14:24583971-24583981 chr14:24583294-24583308 chr14:24584192-24584205 chr14:24584227-24584237 chr14:24583260-24583274 chr14:24584227-24584237
14	CREB1	chr14:24582947-24584650	A549	lung:	n/a	n/a
15	NFIC	chr14:24583235-24584404	GM12878	blood:	n/a	n/a
16	JUN	chr14:24582856-24584747	K562	blood:	n/a	chr14:24584316-24584325 chr14:24584474-24584483
17	EGR1	chr14:24583865-24584506	K562	blood:	n/a	chr14:24584458-24584465 chr14:24584228-24584237 chr14:24584333-24584343 chr14:24584225-24584239 chr14:24584226-24584240 chr14:24584225-24584238 chr14:24583971-24583981 chr14:24584192-24584205 chr14:24584227-24584237 chr14:24584227-24584237
18	ZBTB33	chr14:24583197-24584324	A549	lung:	n/a	n/a
19	POLR2A	chr14:24582536-24584708	GM12878	blood:	n/a	n/a
20	CHD2	chr14:24583184-24584781	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr14:24582915-24584672	Hela-S3	cervix:	n/a	n/a
22	REST	chr14:24582983-24584350	H1-neurons	neurons:	n/a	chr14:24584096-24584109
23	POLR2A	chr14:24582856-24584759	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:24582861-24584646	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:24582955-24584363	K562	blood:	n/a	n/a
26	POLR2A	chr14:24582711-24584738	Hela-S3	cervix:	n/a	n/a
27	NFIC	chr14:24583022-24584296	ECC-1	luminal epithelium:	n/a	n/a
28	POU2F2	chr14:24582875-24584689	GM12878	blood:	n/a	n/a
29	RCOR1	chr14:24582980-24584557	K562	blood:	n/a	n/a
30	FOXA2	chr14:24583754-24584541	A549	lung:	n/a	n/a
31	MYC	chr14:24583006-24584636	K562	blood:	n/a	chr14:24584225-24584235 chr14:24584227-24584236 chr14:24584221-24584236 chr14:24584145-24584154 chr14:24584224-24584235 chr14:24584225-24584235 chr14:24584224-24584235 chr14:24584223-24584238 chr14:24584225-24584234 chr14:24583292-24583302
32	CREB1	chr14:24583073-24584562	K562	blood:	n/a	n/a
33	RCOR1	chr14:24582848-24584623	HepG2	liver:	n/a	n/a
34	GATA3	chr14:24582899-24584615	A549	lung:	n/a	chr14:24584372-24584389 chr14:24584376-24584397
35	MAZ	chr14:24582883-24584990	HepG2	liver:	n/a	chr14:24584225-24584235 chr14:24584227-24584236 chr14:24584221-24584236 chr14:24584145-24584154 chr14:24584224-24584235 chr14:24584225-24584235 chr14:24584224-24584235 chr14:24584223-24584238 chr14:24584225-24584234 chr14:24583292-24583302
36	KAP1	chr14:24583363-24584436	K562	blood:	n/a	n/a
37	CREB1	chr14:24582693-24584665	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:24582559-24584852	GM12892	blood:	n/a	n/a
39	POLR2A	chr14:24582786-24584268	HUVEC	blood vessel:	n/a	n/a
40	CEBPB	chr14:24582848-24584326	HepG2	liver:	n/a	chr14:24584276-24584284
41	SP1	chr14:24582892-24584872	HCT-116	colon:	n/a	chr14:24583780-24583794 chr14:24583891-24583902 chr14:24584265-24584286 chr14:24583971-24583981 chr14:24583970-24583982 chr14:24583298-24583307 chr14:24583967-24583981 chr14:24583919-24583930 chr14:24583970-24583981 chr14:24583972-24583981 chr14:24583779-24583791 chr14:24583971-24583980 chr14:24584358-24584379 chr14:24583970-24583982 chr14:24584307-24584328 chr14:24583780-24583789 chr14:24583971-24583981 chr14:24583972-24583981
42	CEBPZ	chr14:24583386-24584647	HepG2	liver:	n/a	n/a
43	PML	chr14:24582974-24584270	K562	blood:	n/a	n/a
44	TCF12	chr14:24582954-24584305	ECC-1	luminal epithelium:	n/a	n/a
45	STAT1	chr14:24582840-24584638	GM12878	blood:	n/a	chr14:24583032-24583044
46	POLR2A	chr14:24582745-24584961	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr14:24582805-24584750	ECC-1	luminal epithelium:	n/a	n/a
48	PBX3	chr14:24584168-24584431	GM12878	blood:	n/a	chr14:24584275-24584284
49	MAZ	chr14:24582873-24584645	Hela-S3	cervix:	n/a	chr14:24584225-24584235 chr14:24584227-24584236 chr14:24584221-24584236 chr14:24584145-24584154 chr14:24584224-24584235 chr14:24584225-24584235 chr14:24584224-24584235 chr14:24584223-24584238 chr14:24584225-24584234 chr14:24583292-24583302
50	TCF7L2	chr14:24582860-24584496	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24582627..24585556-chr14:24899491..24902320,3	K562	blood:
2	chr14:24583442..24584438-chr5:68665005..68665960,2	Hela-S3	cervix:
3	chr14:24584076..24584996-chr14:24610700..24611472,2	MCF-7	breast:
4	chr14:24561906..24569428-chr14:24581597..24585823,19	K562	blood:
5	chr14:24581325..24587358-chr14:24608969..24612486,6	K562	blood:
6	chr14:24581756..24587936-chr14:24614253..24620861,10	K562	blood:
7	chr14:24583636..24586311-chr14:24599120..24601165,2	K562	blood:
8	chr14:24581560..24585367-chr14:24626129..24634058,10	MCF-7	breast:
9	chr14:24582733..24585457-chr20:45984699..45987352,2	MCF-7	breast:
10	chr14:23588630..23591163-chr14:24583274..24584818,2	K562	blood:
11	chr14:24581369..24585731-chr14:24613808..24618502,7	K562	blood:
12	chr14:24582318..24585060-chr14:24701841..24703415,2	K562	blood:
13	chr11:61559661..61560238-chr14:24583320..24584288,2	Hela-S3	cervix:
14	chr14:24583826..24584582-chr14:24604829..24605503,2	MCF-7	breast:
15	chr14:24582457..24585997-chr14:24603732..24607330,8	K562	blood:
16	chr14:24581893..24584671-chr14:24663785..24666116,3	K562	blood:
17	chr14:24582819..24585430-chr14:24652539..24655541,3	MCF-7	breast:
18	chr14:24582139..24585680-chr14:24681172..24684966,4	K562	blood:
19	chr14:24583118..24584838-chr14:24705953..24708804,2	MCF-7	breast:
20	chr14:24530724..24532664-chr14:24583388..24585313,2	MCF-7	breast:
21	chr14:24581290..24596396-chr14:24599989..24617678,100	MCF-7	breast:
22	chr14:24581352..24586794-chr14:24656349..24659951,9	MCF-7	breast:
23	chr14:24582814..24585295-chr14:24699892..24701976,2	MCF-7	breast:
24	chr14:24504490..24506127-chr14:24583788..24585514,2	MCF-7	breast:
25	chr14:24581146..24586451-chr14:24599665..24612678,16	K562	blood:
26	chr14:24582038..24584525-chr14:24638691..24642019,3	MCF-7	breast:
27	chr14:24582545..24585335-chr14:24585530..24587095,2	K562	blood:
28	chr14:24582823..24585383-chr14:24679580..24684086,4	MCF-7	breast:
29	chr14:24583410..24585426-chr14:24647277..24649187,2	MCF-7	breast:
30	chr14:24519507..24523114-chr14:24581353..24584961,4	MCF-7	breast:
31	chr14:24523828..24526460-chr14:24582327..24585206,3	MCF-7	breast:

Variant related genes	Relation type
DCAF11	TF binding region
NRL	TF binding region
ENSG00000254505	Chromatin interaction
ENSG00000207601	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000168496	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000139914	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000259529	Chromatin interaction
ENSG00000134825	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000092067	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000101040	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17101347	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs17101478	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs61744791	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160211	0.94[AFR][1000 genomes]
rs8012480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs916154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	90 gene(s)	inside rSNPs	diseases
5	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 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	chr14:24582400-24584600	Active TSS	Dnd41	blood
2	chr14:24582400-24584600	Active TSS	Hela-S3	cervix
3	chr14:24582400-24584800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:24582400-24584800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:24582400-24585000	Active TSS	GM12878-XiMat	blood
6	chr14:24582400-24585200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24582400-24585400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:24582400-24585400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:24582600-24584600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:24582600-24584800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr14:24582600-24584800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24582600-24584800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:24582600-24584800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:24582600-24584800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr14:24582600-24584800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:24582600-24584800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:24582600-24584800	Active TSS	Brain Cingulate Gyrus	brain
18	chr14:24582600-24584800	Active TSS	Psoas Muscle	Psoas
19	chr14:24582600-24584800	Active TSS	K562	blood
20	chr14:24582600-24585000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:24582600-24585000	Active TSS	Aorta	Aorta
22	chr14:24582600-24585000	Active TSS	Fetal Kidney	kidney
23	chr14:24582600-24585000	Active TSS	Left Ventricle	heart
24	chr14:24582600-24585200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr14:24582600-24585200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:24582600-24585200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr14:24582600-24585400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr14:24582600-24585400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:24582600-24585400	Active TSS	NHDF-Ad	bronchial
30	chr14:24582600-24585600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr14:24582600-24585600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr14:24582600-24585600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr14:24582600-24585600	Active TSS	Right Ventricle	heart
34	chr14:24582600-24585800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:24582600-24586000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr14:24582800-24584600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:24582800-24584600	Active TSS	Fetal Brain Female	brain
38	chr14:24582800-24584800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:24582800-24584800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:24582800-24584800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:24582800-24584800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:24582800-24584800	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr14:24582800-24584800	Active TSS	Brain Angular Gyrus	brain
44	chr14:24582800-24584800	Active TSS	Colon Smooth Muscle	Colon
45	chr14:24582800-24584800	Active TSS	Gastric	stomach
46	chr14:24582800-24584800	Active TSS	Small Intestine	intestine
47	chr14:24582800-24584800	Active TSS	Spleen	Spleen
48	chr14:24582800-24585000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:24582800-24585000	Active TSS	Esophagus	oesophagus
50	chr14:24582800-24585000	Active TSS	Lung	lung

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