Variant report

Variant	rs34097926
Chromosome Location	chr14:45722703-45722704
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	GATA3	chr14:45722043-45723070	A549	lung:	n/a	n/a
2	IRF4	chr14:45722213-45723097	GM12878	blood:	n/a	n/a
3	CTCF	chr14:45722324-45722841	MCF-7	breast:	n/a	n/a
4	EGR1	chr14:45722136-45722880	GM12878	blood:	n/a	chr14:45722216-45722226
5	CTCF	chr14:45722360-45722836	NHEK	skin:	n/a	n/a
6	CEBPB	chr14:45722633-45722861	GM12878	blood:	n/a	n/a
7	EP300	chr14:45722285-45723048	A549	lung:	n/a	n/a
8	CHD2	chr14:45721928-45723221	GM12878	blood:	n/a	chr14:45722220-45722230
9	MAX	chr14:45722024-45723299	A549	lung:	n/a	chr14:45722147-45722154 chr14:45722217-45722227
10	POLR2A	chr14:45722132-45722912	HEK293	kidney:	n/a	n/a
11	CTCF	chr14:45722313-45722866	Spleen_OC	spleen:	n/a	n/a
12	ETS1	chr14:45722179-45723170	A549	lung:	n/a	chr14:45722951-45722964
13	E2F1	chr14:45722145-45722859	Hela-S3	cervix:	n/a	chr14:45722358-45722369
14	TCF7L2	chr14:45722228-45722916	PANC-1	pancreas:	n/a	n/a
15	NR3C1	chr14:45722565-45723151	A549	lung:	n/a	chr14:45722894-45722903 chr14:45722896-45722913 chr14:45722895-45722913 chr14:45722891-45722917 chr14:45722896-45722912 chr14:45722891-45722917 chr14:45722897-45722911 chr14:45722895-45722912 chr14:45722891-45722917 chr14:45722891-45722917 chr14:45722896-45722912 chr14:45722896-45722912 chr14:45722897-45722911 chr14:45722891-45722917 chr14:45722893-45722914 chr14:45722897-45722911 chr14:45722896-45722912
16	KAP1	chr14:45722193-45723072	HEK293	kidney:	n/a	n/a
17	TAF1	chr14:45722012-45722993	H1-hESC	embryonic stem cell:	n/a	n/a
18	FOSL2	chr14:45721989-45723127	A549	lung:	n/a	n/a
19	TCF12	chr14:45722245-45722791	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr14:45721967-45723389	HCT-116	colon:	n/a	chr14:45722147-45722154 chr14:45722217-45722227
21	ZBTB7A	chr14:45722495-45722719	HepG2	liver:	n/a	n/a
22	MXI1	chr14:45721668-45723401	IMR90	lung:	n/a	n/a
23	MAX	chr14:45722072-45723267	H1-hESC	embryonic stem cell:	n/a	chr14:45722147-45722154 chr14:45722217-45722227
24	EGR1	chr14:45722597-45722833	GM12878	blood:	n/a	n/a
25	HDAC2	chr14:45722208-45722934	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr14:45722116-45722868	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr14:45721828-45723301	MCF-7	breast:	n/a	n/a
28	PAX5	chr14:45722048-45722939	GM12878	blood:	n/a	n/a
29	PAX5	chr14:45722244-45723086	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:45722062-45723616	NB4	blood:	n/a	n/a
31	TAF1	chr14:45722220-45722709	GM12891	blood:	n/a	n/a
32	FOXA1	chr14:45722259-45722914	T-47D	breast:	n/a	n/a
33	FOXM1	chr14:45722013-45723160	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr14:45722680-45722830	AG10803	skin:	n/a	n/a
35	CTCF	chr14:45722145-45723135	HCT-116	colon:	n/a	n/a
36	TFAP2C	chr14:45722043-45723148	Hela-S3	cervix:	n/a	chr14:45722319-45722334
37	POLR2A	chr14:45722102-45723597	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr14:45722109-45723584	PANC-1	pancreas:	n/a	n/a
39	ZNF143	chr14:45722216-45723038	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr14:45722186-45723021	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr14:45722025-45723702	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr14:45721958-45723238	HCT-116	colon:	n/a	n/a
43	POLR2A	chr14:45722116-45723088	PFSK-1	brain:	n/a	n/a
44	USF2	chr14:45722401-45723032	Hela-S3	cervix:	n/a	n/a
45	JUN	chr14:45722398-45722717	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr14:45722128-45723021	GM12892	blood:	n/a	n/a
47	CHD2	chr14:45722182-45723522	Hela-S3	cervix:	n/a	chr14:45722220-45722230
48	RUNX3	chr14:45722095-45723159	GM12878	blood:	n/a	n/a
49	POLR2A	chr14:45722149-45723104	HepG2	liver:	n/a	n/a
50	HA-E2F1	chr14:45722126-45722892	Hela-S3	cervix:	n/a	chr14:45722358-45722369

No.	Distal block	Cell Line	Cell type
1	chr14:45722237..45722750-chr18:3653037..3653537,2	HCT-116	colon:
2	chr12:57039223..57039923-chr14:45722606..45723303,3	Hela-S3	cervix:
3	chr14:45721810..45725859-chr14:45742099..45745950,4	MCF-7	breast:
4	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
5	chr14:45721734..45722708-chr16:28565152..28565667,2	Hela-S3	cervix:
6	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
7	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
8	chr14:45429725..45432587-chr14:45720437..45723992,3	MCF-7	breast:
9	chr14:45722471..45723281-chr15:75743983..75744975,2	Hela-S3	cervix:
10	chr14:45601339..45606570-chr14:45722040..45724234,5	MCF-7	breast:

Variant related genes	Relation type
MIS18BP1	TF binding region
ENSG00000187790	Chromatin interaction
ENSG00000266401	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000199739	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000176476	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000258633	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17115914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565418	1.00[EUR][1000 genomes]
rs2899962	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34402741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45607635	1.00[EUR][1000 genomes]
rs59375426	1.00[EUR][1000 genomes]
rs61746895	0.92[EUR][1000 genomes]
rs7141132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145397	1.00[EUR][1000 genomes]
rs7149582	1.00[EUR][1000 genomes]
rs73350258	1.00[EUR][1000 genomes]
rs8008760	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8018014	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv901846	chr14:45702358-45783546	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv564726	chr14:45702358-45911581	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv2758357	chr14:45706082-45982410	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	esv2759987	chr14:45706082-45982410	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45718800-45722800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:45718800-45723400	Active TSS	Rectal Smooth Muscle	rectum
3	chr14:45718800-45723800	Active TSS	GM12878-XiMat	blood
4	chr14:45719800-45723200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:45720000-45722800	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:45720000-45723000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:45720400-45722800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:45720400-45722800	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr14:45720400-45722800	Active TSS	Fetal Thymus	thymus
10	chr14:45720400-45723200	Active TSS	Thymus	Thymus
11	chr14:45720400-45723400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:45720400-45723400	Active TSS	HMEC	breast
13	chr14:45720400-45723400	Active TSS	NHLF	lung
14	chr14:45720600-45722800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:45720600-45723400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:45720600-45723400	Active TSS	Fetal Intestine Large	intestine
17	chr14:45720600-45723600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:45720600-45723600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:45720600-45723600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:45720600-45723600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr14:45720600-45723600	Active TSS	HSMM	muscle
22	chr14:45720600-45723800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:45720800-45722800	Active TSS	Primary B cells from peripheral blood	blood
24	chr14:45720800-45723000	Active TSS	Fetal Heart	heart
25	chr14:45720800-45723200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:45720800-45723200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:45720800-45723200	Active TSS	NHDF-Ad	bronchial
28	chr14:45720800-45723200	Active TSS	NHEK	skin
29	chr14:45720800-45723400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr14:45720800-45723400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr14:45720800-45723400	Active TSS	Fetal Stomach	stomach
32	chr14:45720800-45723600	Active TSS	Brain Angular Gyrus	brain
33	chr14:45720800-45723600	Active TSS	Brain Germinal Matrix	brain
34	chr14:45720800-45723600	Active TSS	Fetal Brain Female	brain
35	chr14:45720800-45723600	Active TSS	Fetal Kidney	kidney
36	chr14:45721000-45722800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:45721000-45722800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr14:45721000-45722800	Active TSS	Fetal Muscle Leg	muscle
39	chr14:45721000-45723000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr14:45721000-45723000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr14:45721000-45723000	Active TSS	Placenta	Placenta
42	chr14:45721000-45723000	Active TSS	HepG2	liver
43	chr14:45721000-45723200	Active TSS	Fetal Intestine Small	intestine
44	chr14:45721000-45723400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr14:45721000-45723400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:45721000-45723400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:45721000-45723400	Active TSS	Brain Hippocampus Middle	brain
48	chr14:45721000-45723400	Active TSS	Hela-S3	cervix
49	chr14:45721000-45723600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr14:45721000-45723600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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