Variant report

Variant	rs10138006
Chromosome Location	chr14:24583168-24583169
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	SIN3AK20	chr14:24583103-24584299	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr14:24583100-24583250	GM12874	blood:	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	YY1	chr14:24583120-24584197	SK-N-SH_RA	brain:	n/a	chr14:24583971-24583980 chr14:24583289-24583303
7	CTCF	chr14:24583120-24583270	AG04449	skin:	n/a	n/a
8	MAFK	chr14:24583023-24584504	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:24582989-24583395	IMR90	lung:	n/a	n/a
10	ZBTB7A	chr14:24583080-24583383	K562	blood:	n/a	n/a
11	POLR2A	chr14:24582738-24584093	HCT-116	colon:	n/a	n/a
12	POLR2A	chr14:24582980-24584180	HEK293	kidney:	n/a	n/a
13	TAL1	chr14:24583154-24584050	K562	blood:	n/a	n/a
14	STAT5A	chr14:24582824-24583714	GM12878	blood:	n/a	chr14:24583032-24583044
15	HEY1	chr14:24582533-24584782	HepG2	liver:	n/a	chr14:24584100-24584115
16	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
17	CREB1	chr14:24582947-24584650	A549	lung:	n/a	n/a
18	PAX5	chr14:24582889-24583508	GM12878	blood:	n/a	chr14:24583271-24583280
19	JUN	chr14:24582856-24584747	K562	blood:	n/a	chr14:24584316-24584325 chr14:24584474-24584483
20	REST	chr14:24582895-24583701	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:24582536-24584708	GM12878	blood:	n/a	n/a
22	NR2F2	chr14:24583079-24584033	K562	blood:	n/a	n/a
23	CHD2	chr14:24582915-24584672	Hela-S3	cervix:	n/a	n/a
24	REST	chr14:24582983-24584350	H1-neurons	neurons:	n/a	chr14:24584096-24584109
25	POLR2A	chr14:24582856-24584759	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:24582861-24584646	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:24582955-24584363	K562	blood:	n/a	n/a
28	SRF	chr14:24582891-24583614	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:24582711-24584738	Hela-S3	cervix:	n/a	n/a
30	NFIC	chr14:24583022-24584296	ECC-1	luminal epithelium:	n/a	n/a
31	POU2F2	chr14:24582875-24584689	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:24582930-24583443	A549	lung:	n/a	n/a
33	FOS	chr14:24583139-24583434	MCF10A-Er-Src	breast:	n/a	n/a
34	RCOR1	chr14:24582980-24584557	K562	blood:	n/a	n/a
35	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
36	TAF1	chr14:24582910-24584187	MCF-7	breast:	n/a	n/a
37	CREB1	chr14:24583073-24584562	K562	blood:	n/a	n/a
38	RCOR1	chr14:24582848-24584623	HepG2	liver:	n/a	n/a
39	GATA3	chr14:24582899-24584615	A549	lung:	n/a	chr14:24584372-24584389 chr14:24584376-24584397
40	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
41	CREB1	chr14:24582693-24584665	GM12878	blood:	n/a	n/a
42	UBTF	chr14:24582767-24583997	K562	blood:	n/a	n/a
43	FOXP2	chr14:24583063-24583439	PFSK-1	brain:	n/a	n/a
44	EP300	chr14:24583007-24584235	A549	lung:	n/a	chr14:24583039-24583055 chr14:24583289-24583305
45	POLR2A	chr14:24582559-24584852	GM12892	blood:	n/a	n/a
46	POLR2A	chr14:24582786-24584268	HUVEC	blood vessel:	n/a	n/a
47	EBF1	chr14:24582973-24584004	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:24582921-24584146	A549	lung:	n/a	n/a
49	CEBPB	chr14:24582848-24584326	HepG2	liver:	n/a	chr14:24584276-24584284
50	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

No.	Distal block	Cell Line	Cell type
1	chr14:24582627..24585556-chr14:24899491..24902320,3	K562	blood:
2	chr14:24582702..24583675-chr17:62222682..62223435,2	NB4	blood:
3	chr14:24034703..24037198-chr14:24581883..24583836,2	MCF-7	breast:
4	chr14:24561906..24569428-chr14:24581597..24585823,19	K562	blood:
5	chr14:24583159..24583689-chr3:52444641..52445456,2	Hela-S3	cervix:
6	chr14:24581325..24587358-chr14:24608969..24612486,6	K562	blood:
7	chr14:24581756..24587936-chr14:24614253..24620861,10	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	chr14:24581771..24583991-chr14:24662920..24665943,3	MCF-7	breast:
11	chr1:45187273..45189411-chr14:24581564..24584245,2	MCF-7	breast:
12	chr14:24581369..24585731-chr14:24613808..24618502,7	K562	blood:
13	chr14:24582318..24585060-chr14:24701841..24703415,2	K562	blood:
14	chr14:24582457..24585997-chr14:24603732..24607330,8	K562	blood:
15	chr14:24581893..24584671-chr14:24663785..24666116,3	K562	blood:
16	chr14:24582979..24583595-chr15:59980787..59981641,2	Hela-S3	cervix:
17	chr14:24582819..24585430-chr14:24652539..24655541,3	MCF-7	breast:
18	chr14:24582139..24585680-chr14:24681172..24684966,4	K562	blood:
19	chr14:24421741..24423927-chr14:24582561..24584260,2	K562	blood:
20	chr14:24583118..24584838-chr14:24705953..24708804,2	MCF-7	breast:
21	chr14:24581290..24596396-chr14:24599989..24617678,100	MCF-7	breast:
22	chr14:24581643..24583639-chr14:24682241..24684966,3	K562	blood:
23	chr14:24581352..24586794-chr14:24656349..24659951,9	MCF-7	breast:
24	chr14:24582814..24585295-chr14:24699892..24701976,2	MCF-7	breast:
25	chr14:24582941..24583717-chr3:169482164..169482866,2	Hela-S3	cervix:
26	chr14:24581146..24586451-chr14:24599665..24612678,16	K562	blood:
27	chr14:24582038..24584525-chr14:24638691..24642019,3	MCF-7	breast:
28	chr14:24582545..24585335-chr14:24585530..24587095,2	K562	blood:
29	chr14:24582823..24585383-chr14:24679580..24684086,4	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
ENSG00000270141	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000157326	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000010318	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000139914	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000215256	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000140299	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000259529	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000196497	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10132601	1.00[EUR][1000 genomes]
rs10136189	1.00[EUR][1000 genomes]
rs10137012	1.00[EUR][1000 genomes]
rs10147702	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10151593	1.00[EUR][1000 genomes]
rs11574504	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11574512	1.00[CEU][hapmap]
rs11620720	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs17101262	1.00[CHD][hapmap]
rs28420107	1.00[EUR][1000 genomes]
rs28625516	1.00[EUR][1000 genomes]
rs28674477	1.00[EUR][1000 genomes]
rs34861984	1.00[EUR][1000 genomes]
rs35618680	0.81[AFR][1000 genomes]
rs4981500	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs61737105	1.00[EUR][1000 genomes]
rs7147300	1.00[CEU][hapmap]
rs7151831	1.00[EUR][1000 genomes]
rs7155723	1.00[CHD][hapmap]
rs74040010	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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	chr14:24582600-24583200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr14:24582600-24583200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr14:24582600-24583200	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr14:24582600-24583200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr14:24582600-24583200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr14:24582600-24583200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr14:24582600-24583200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:24582600-24583200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:24582600-24583200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:24582600-24583200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:24582600-24583200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr14:24582600-24583200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:24582600-24583200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:24582600-24583200	Flanking Active TSS	Liver	Liver
23	chr14:24582600-24583200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr14:24582600-24583200	Flanking Active TSS	Colonic Mucosa	Colon
25	chr14:24582600-24583200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr14:24582600-24583200	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr14:24582600-24583200	Flanking Active TSS	Placenta	Placenta
28	chr14:24582600-24583200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr14:24582600-24583200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr14:24582600-24583200	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr14:24582600-24583200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr14:24582600-24583200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr14:24582600-24583200	Flanking Active TSS	HMEC	breast
34	chr14:24582600-24583200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr14:24582600-24583200	Flanking Active TSS	NH-A	brain
36	chr14:24582600-24583200	Flanking Active TSS	NHEK	skin
37	chr14:24582600-24583200	Flanking Active TSS	NHLF	lung
38	chr14:24582600-24583200	Flanking Active TSS	Osteobl	bone
39	chr14:24582600-24583400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr14:24582600-24583400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr14:24582600-24583400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:24582600-24583400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr14:24582600-24583600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr14:24582600-24583800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr14:24582600-24583800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:24582600-24583800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr14:24582600-24583800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr14:24582600-24584600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:24582600-24584800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr14:24582600-24584800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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