Variant report

Variant	rs34113897
Chromosome Location	chr14:24711289-24711290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:248)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24710811-24712975	SK-N-SH	brain:	n/a	chr14:24712263-24712279 chr14:24712264-24712285 chr14:24712262-24712280 chr14:24711551-24711564
2	E2F4	chr14:24711038-24712406	K562	blood:	n/a	n/a
3	SIN3AK20	chr14:24710935-24712943	MCF-7	breast:	n/a	n/a
4	GABPA	chr14:24710784-24712440	MCF-7	breast:	n/a	n/a
5	CEBPD	chr14:24710940-24712492	HepG2	liver:	n/a	n/a
6	TAF1	chr14:24711207-24712196	HepG2	liver:	n/a	n/a
7	BACH1	chr14:24711198-24712077	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:24710787-24712578	SK-N-SH	brain:	n/a	n/a
9	MAX	chr14:24711228-24712481	MCF-7	breast:	n/a	n/a
10	POLR2A	chr14:24710876-24712663	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:24710834-24712267	GM12891	blood:	n/a	n/a
12	GABPA	chr14:24711269-24712397	A549	lung:	n/a	n/a
13	TCF12	chr14:24711081-24712415	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr14:24711236-24712513	K562	blood:	n/a	n/a
15	ESR1	chr14:24710973-24711434	ECC-1	luminal epithelium:	n/a	chr14:24711232-24711249
16	TAF1	chr14:24711280-24712402	SK-N-SH	brain:	n/a	n/a
17	NFIC	chr14:24710989-24712714	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:24711254-24712238	HepG2	liver:	n/a	n/a
19	STAT1	chr14:24711289-24712299	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:24710821-24712380	GM12891	blood:	n/a	n/a
21	CUX1	chr14:24711277-24711879	K562	blood:	n/a	n/a
22	POLR2A	chr14:24711097-24712581	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr14:24710821-24712604	HL-60	blood:	n/a	n/a
24	MXI1	chr14:24710845-24712628	IMR90	lung:	n/a	n/a
25	CCNT2	chr14:24711096-24712451	K562	blood:	n/a	chr14:24711711-24711720 chr14:24711613-24711622
26	MAX	chr14:24710793-24713351	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:24710732-24713277	GM12878	blood:	n/a	n/a
28	FOS	chr14:24710951-24712289	MCF10A-Er-Src	breast:	n/a	n/a
29	JUN	chr14:24710791-24712461	K562	blood:	n/a	n/a
30	CTCF	chr14:24711280-24711430	HAc	cerebellar:	n/a	n/a
31	POLR2A	chr14:24711271-24712352	U87	brain:	n/a	n/a
32	MAX	chr14:24711104-24712628	A549	lung:	n/a	n/a
33	ZNF143	chr14:24711261-24712429	GM12878	blood:	n/a	n/a
34	REST	chr14:24710891-24712838	HepG2	liver:	n/a	n/a
35	BRCA1	chr14:24711182-24711300	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:24711051-24712502	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr14:24711090-24712464	PFSK-1	brain:	n/a	n/a
38	REST	chr14:24711219-24712284	A549	lung:	n/a	n/a
39	POLR2A	chr14:24710756-24713191	HepG2	liver:	n/a	n/a
40	CREB1	chr14:24711281-24712411	A549	lung:	n/a	n/a
41	FOSL2	chr14:24710818-24713011	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:24711076-24712515	NB4	blood:	n/a	n/a
43	POLR2A	chr14:24711016-24713172	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:24710958-24712579	MCF-7	breast:	n/a	n/a
45	TCF7L2	chr14:24711242-24712788	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:24711271-24712422	U87	brain:	n/a	n/a
47	POLR2A	chr14:24711276-24712560	GM19099	blood:	n/a	n/a
48	POLR2A	chr14:24711232-24712316	PBDE	blood:	n/a	n/a
49	CREB1	chr14:24711241-24712439	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr14:24711272-24712598	HCT-116	colon:	n/a	chr14:24712263-24712282

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24682906..24687740-chr14:24707883..24712855,6	K562	blood:
2	chr14:24710306..24713162-chr14:24834355..24837181,3	MCF-7	breast:
3	chr14:24709552..24713134-chr14:24898718..24901467,5	MCF-7	breast:
4	chr14:24656097..24659538-chr14:24709665..24713530,7	MCF-7	breast:
5	chr14:24710202..24713274-chr14:24777163..24780691,4	K562	blood:
6	chr14:24710493..24713129-chr14:24782481..24785147,3	K562	blood:
7	chr14:24709885..24712495-chr14:24729167..24732182,3	K562	blood:
8	chr14:24709884..24713728-chr14:24799730..24804763,6	MCF-7	breast:
9	chr14:24711225..24713495-chr14:24896859..24899429,2	K562	blood:
10	chr14:24708705..24711391-chr14:24835145..24836827,2	MCF-7	breast:
11	chr14:24709335..24712189-chr14:24910783..24914037,3	K562	blood:
12	chr14:24709953..24714493-chr14:24766859..24769769,8	K562	blood:
13	chr14:24710796..24711650-chr3:196593926..196594767,2	Hela-S3	cervix:
14	chr14:24710331..24713124-chr14:24894765..24900704,5	MCF-7	breast:
15	chr14:24709953..24713670-chr14:24767111..24769746,6	K562	blood:
16	chr14:24710704..24713128-chr14:24738885..24741180,4	K562	blood:
17	chr14:24708551..24715320-chr14:24722643..24727115,8	K562	blood:
18	chr14:24710128..24713467-chr14:24737949..24741923,9	K562	blood:
19	chr14:24710626..24712809-chr14:24761699..24764407,2	K562	blood:

No data

Variant related genes	Relation type
TINF2	TF binding region
ENSG00000196943	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000119231	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000272658	Chromatin interaction
ENSG00000100949	Chromatin interaction

rs_ID	r²[population]
rs17102313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589609	0.81[AFR][1000 genomes]
rs73589614	0.83[AFR][1000 genomes]
rs73589619	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589622	0.83[AFR][1000 genomes]
rs73604981	0.81[AFR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24710000-24712800	Active TSS	Psoas Muscle	Psoas
2	chr14:24710200-24711400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:24710400-24711400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:24710400-24712800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:24710400-24712800	Active TSS	HSMMtube	muscle
6	chr14:24710600-24711400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr14:24710600-24711400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr14:24710600-24711400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:24710600-24711400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:24710600-24711400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr14:24710600-24711400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr14:24710600-24711400	Flanking Active TSS	Dnd41	blood
13	chr14:24710600-24711400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr14:24710600-24711600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:24710600-24712400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:24710600-24712600	Active TSS	NHLF	lung
17	chr14:24710600-24712800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:24710600-24712800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:24710600-24712800	Active TSS	Esophagus	oesophagus
20	chr14:24710600-24712800	Active TSS	NHDF-Ad	bronchial
21	chr14:24710600-24713000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr14:24710600-24713200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:24710800-24711400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:24710800-24711400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr14:24710800-24711400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr14:24710800-24711400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr14:24710800-24711400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr14:24710800-24711400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr14:24710800-24711400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr14:24710800-24711400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:24710800-24711400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr14:24710800-24711400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:24710800-24711400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr14:24710800-24711400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:24710800-24711400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr14:24710800-24711400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:24710800-24711400	Flanking Active TSS	Liver	Liver
38	chr14:24710800-24711400	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr14:24710800-24711400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr14:24710800-24711400	Flanking Active TSS	Colonic Mucosa	Colon
41	chr14:24710800-24711400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr14:24710800-24711400	Flanking Active TSS	Placenta	Placenta
43	chr14:24710800-24711400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
44	chr14:24710800-24711400	Flanking Active TSS	Fetal Thymus	thymus
45	chr14:24710800-24711400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr14:24710800-24711400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr14:24710800-24711400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
48	chr14:24710800-24711400	Flanking Active TSS	Thymus	Thymus
49	chr14:24710800-24711400	Flanking Active TSS	HUVEC	blood vessel
50	chr14:24710800-24711600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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