Variant report

Variant	rs34075659
Chromosome Location	chr14:24641956-24641957
allele	A/G
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	MAX	chr14:24640722-24642009	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
2	SIN3A	chr14:24640784-24642060	H1-hESC	embryonic stem cell:	n/a	chr14:24641668-24641682
3	POLR2A	chr14:24640714-24642559	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:24641939-24641991	K562	blood:	n/a	n/a
5	POLR2A	chr14:24641582-24641987	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr14:24640902-24642906	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:24640454-24642983	GM12878	blood:	n/a	n/a
8	NFATC1	chr14:24640575-24641959	GM12878	blood:	n/a	n/a
9	YY1	chr14:24641666-24641985	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:24641247-24642944	A549	lung:	n/a	n/a
11	POLR2A	chr14:24640638-24642869	GM19193	blood:	n/a	n/a
12	POU2F2	chr14:24640660-24642034	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:24639375-24643075	GM12891	blood:	n/a	n/a
14	POLR2A	chr14:24639969-24643029	GM12891	blood:	n/a	n/a
15	POLR2A	chr14:24640569-24643031	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr14:24640504-24642708	SK-N-SH	brain:	n/a	n/a
17	EP300	chr14:24640548-24642714	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr14:24638137-24643601	GM12892	blood:	n/a	n/a
19	STAT5A	chr14:24640654-24642079	GM12878	blood:	n/a	chr14:24640865-24640877
20	POLR2A	chr14:24639415-24643065	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:24640704-24642257	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:24641790-24642320	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:24639366-24643007	GM12892	blood:	n/a	n/a
24	POLR2A	chr14:24640677-24642299	GM12892	blood:	n/a	n/a
25	POLR2A	chr14:24641777-24642960	HepG2	liver:	n/a	n/a
26	PML	chr14:24640283-24642208	GM12878	blood:	n/a	n/a
27	RFX5	chr14:24640506-24642023	SK-N-SH	brain:	n/a	chr14:24641165-24641179 chr14:24641164-24641180 chr14:24641164-24641172 chr14:24641206-24641215 chr14:24640986-24640995
28	POLR2A	chr14:24640644-24642417	GM18505	blood:	n/a	n/a
29	MAX	chr14:24640714-24641999	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
30	FOXM1	chr14:24640557-24642015	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:24640456-24642980	GM12878	blood:	n/a	n/a
32	REST	chr14:24640685-24642032	H1-neurons	neurons:	n/a	chr14:24641668-24641677 chr14:24641663-24641683 chr14:24642011-24642024 chr14:24641663-24641683
33	MAX	chr14:24640734-24641987	SK-N-SH	brain:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
34	YY1	chr14:24640834-24641994	SK-N-SH_RA	brain:	n/a	chr14:24641318-24641329 chr14:24641229-24641237
35	POLR2A	chr14:24640622-24641984	GM12891	blood:	n/a	n/a
36	YY1	chr14:24641669-24641962	GM12891	blood:	n/a	n/a
37	POLR2A	chr14:24641513-24642756	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:24629025-24642975	GM12878	blood:	n/a	n/a
39	POLR2A	chr14:24628755-24643416	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:24628891-24643060	GM12892	blood:	n/a	n/a
41	POLR2A	chr14:24635678-24642994	GM12891	blood:	n/a	n/a
42	POLR2A	chr14:24641884-24642395	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
2	chr14:24641149..24643201-chr14:24656538..24659107,2	K562	blood:
3	chr14:24582038..24584525-chr14:24638691..24642019,3	MCF-7	breast:
4	chr14:24639747..24642550-chr14:24651922..24653711,2	K562	blood:
5	chr14:24628958..24631680-chr14:24640156..24642572,2	K562	blood:
6	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
7	chr14:24526357..24527984-chr14:24640632..24642546,2	MCF-7	breast:
8	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:

Variant related genes	Relation type
REC8	TF binding region
ENSG00000100897	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100918	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv522667	chr14:24641526-24654590	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr14:24631600-24653800	Weak transcription	K562	blood
2	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:24635400-24647800	Weak transcription	HMEC	breast
4	chr14:24635600-24647000	Weak transcription	Dnd41	blood
5	chr14:24636200-24646000	Weak transcription	Stomach Mucosa	stomach
6	chr14:24636600-24642200	Weak transcription	Hela-S3	cervix
7	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
8	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:24637000-24648000	Weak transcription	HSMM	muscle
10	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
11	chr14:24637200-24644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:24637200-24645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:24637200-24645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:24637200-24646000	Weak transcription	HepG2	liver
15	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
16	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:24638800-24643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:24639200-24645800	Weak transcription	Osteobl	bone
20	chr14:24639800-24642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:24640200-24642000	Active TSS	Brain Germinal Matrix	brain
22	chr14:24640200-24642800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:24640400-24642000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr14:24640400-24642600	Flanking Active TSS	Fetal Thymus	thymus
25	chr14:24640600-24642000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr14:24640600-24642000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr14:24640600-24642000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr14:24640600-24642000	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr14:24640600-24642000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:24640600-24642000	Active TSS	Brain Substantia Nigra	brain
31	chr14:24640600-24642000	Active TSS	Fetal Brain Female	brain
32	chr14:24640600-24642000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr14:24640600-24642000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr14:24640600-24642200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:24640600-24642200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:24640600-24642200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr14:24640600-24642200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:24640600-24642200	Active TSS	Brain Angular Gyrus	brain
39	chr14:24640600-24642400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr14:24640600-24642400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:24640600-24642400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr14:24640600-24642600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:24640600-24642600	Active TSS	Fetal Kidney	kidney
44	chr14:24640800-24642200	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr14:24640800-24642200	Flanking Active TSS	NH-A	brain
46	chr14:24640800-24642400	Active TSS	Fetal Intestine Large	intestine
47	chr14:24640800-24642600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:24640800-24642800	Strong transcription	NHLF	lung
49	chr14:24641200-24642000	Genic enhancers	Lung	lung
50	chr14:24641200-24642200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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