Variant report

Variant	rs74056440
Chromosome Location	chr14:64973421-64973422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr14:64973232-64973885	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:64973128-64973853	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:64973232-64974789	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:64973417-64973763	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:64973268-64973974	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:64973403-64973801	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:64973303-64973826	GM12892	blood:	n/a	n/a
8	RUNX3	chr14:64973264-64973735	GM12878	blood:	n/a	chr14:64973498-64973515
9	POLR2A	chr14:64973177-64973907	GM12878	blood:	n/a	n/a
10	WRNIP1	chr14:64973408-64973742	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:64973091-64973883	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64973370..64976227-chr20:52238868..52240910,2	MCF-7	breast:
2	chr14:64853586..64859592-chr14:64968792..64973445,7	MCF-7	breast:
3	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:64952330..64955037-chr14:64972049..64976293,4	K562	blood:
5	chr14:64959822..64962033-chr14:64973410..64976563,3	K562	blood:
6	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
7	chr14:64972864..64974430-chr14:65133703..65136620,2	MCF-7	breast:
8	chr14:64853592..64856673-chr14:64970174..64974352,5	K562	blood:
9	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
10	chr14:64972127..64974828-chr17:57925743..57928112,2	MCF-7	breast:
11	chr14:64972191..64974986-chr14:64988003..64989901,3	MCF-7	breast:
12	chr14:64973191..64975361-chr14:65169489..65172420,3	MCF-7	breast:
13	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:
14	chr14:64972763..64974388-chr14:65172588..65174166,2	MCF-7	breast:
15	chr14:64804345..64806139-chr14:64972304..64974654,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB25	TF binding region
ENSG00000140009	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000259160	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55730966	1.00[AMR][1000 genomes]
rs74056446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056453	0.88[AFR][1000 genomes]
rs74058136	1.00[AMR][1000 genomes]
rs9783612	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521823	chr14:64969342-64995694	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64967800-64974200	Active TSS	GM12878-XiMat	blood
2	chr14:64968800-64974200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:64969000-64973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:64969200-64973600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:64969200-64973800	Active TSS	Aorta	Aorta
6	chr14:64969200-64974000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:64969400-64973600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:64969600-64973600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:64969600-64973600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:64969600-64973600	Active TSS	Right Ventricle	heart
11	chr14:64969600-64974200	Active TSS	NHLF	lung
12	chr14:64969800-64973600	Active TSS	HSMMtube	muscle
13	chr14:64971200-64973600	Active TSS	Stomach Smooth Muscle	stomach
14	chr14:64971600-64973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:64971800-64975200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr14:64972200-64973800	Flanking Active TSS	Fetal Thymus	thymus
17	chr14:64972200-64974800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr14:64972200-64975400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:64972400-64974200	Flanking Active TSS	Dnd41	blood
20	chr14:64972400-64975200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:64972400-64975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:64972600-64974000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr14:64972600-64974200	Weak transcription	Spleen	Spleen
24	chr14:64972600-64974400	Flanking Active TSS	NHEK	skin
25	chr14:64972800-64973600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:64972800-64973600	Weak transcription	Pancreas	Pancrea
27	chr14:64972800-64973800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr14:64972800-64973800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr14:64972800-64973800	Enhancers	Fetal Brain Male	brain
30	chr14:64972800-64974000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr14:64972800-64974200	Weak transcription	Ovary	ovary
32	chr14:64972800-64974400	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:64972800-64974600	Enhancers	Brain Substantia Nigra	brain
34	chr14:64972800-64974800	Enhancers	Brain Angular Gyrus	brain
35	chr14:64972800-64974800	Enhancers	Fetal Brain Female	brain
36	chr14:64972800-64975000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:64972800-64975200	Enhancers	Colon Smooth Muscle	Colon
38	chr14:64972800-64975600	Weak transcription	Esophagus	oesophagus
39	chr14:64972800-64975600	Weak transcription	Gastric	stomach
40	chr14:64972800-64975800	Weak transcription	Lung	lung
41	chr14:64972800-64976200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr14:64972800-64976400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:64972800-64977000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:64972800-64978800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:64972800-64979200	Enhancers	Small Intestine	intestine
46	chr14:64972800-64988400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:64972800-64991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:64973000-64973600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:64973000-64973800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:64973000-64974000	Enhancers	Fetal Intestine Small	intestine

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