Variant report

Variant	rs8013184
Chromosome Location	chr14:68853583-68853584
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	EP300	chr14:68853486-68854685	SK-N-SH	brain:	n/a	chr14:68854401-68854415 chr14:68854215-68854225 chr14:68854106-68854120
2	GATA3	chr14:68853574-68854657	SK-N-SH	brain:	n/a	chr14:68854392-68854399 chr14:68854464-68854472
3	NFIC	chr14:68853574-68854134	SK-N-SH	brain:	n/a	chr14:68853867-68853884
4	TCF12	chr14:68853490-68854648	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr14:68853546-68854718	SK-N-SH	brain:	n/a	chr14:68854392-68854399 chr14:68854464-68854472
6	TCF12	chr14:68853391-68854766	SK-N-SH	brain:	n/a	n/a
7	EP300	chr14:68852497-68854798	SK-N-SH	brain:	n/a	chr14:68854401-68854415 chr14:68854215-68854225 chr14:68854106-68854120
8	NFIC	chr14:68853476-68854683	SK-N-SH	brain:	n/a	chr14:68853867-68853884
9	JUND	chr14:68853508-68854631	SK-N-SH	brain:	n/a	chr14:68853732-68853742 chr14:68854392-68854404

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68853558..68855258-chr14:69259341..69263299,3	MCF-7	breast:
2	chr14:68852547..68854208-chr14:69260882..69263512,3	MCF-7	breast:

Variant related genes	Relation type
RAD51B	TF binding region
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12435006	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12588330	0.81[EUR][1000 genomes]
rs2064910	0.85[ASN][1000 genomes]
rs4899241	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902580	0.81[EUR][1000 genomes]
rs7154175	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8019592	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs975422	0.85[ASN][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68844600-68858000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:68844600-68859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:68845200-68853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:68845200-68858800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:68847600-68859000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:68847600-68862600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68848000-68853800	Weak transcription	Osteobl	bone
8	chr14:68848200-68856600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:68848800-68857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:68849400-68854600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:68850000-68855800	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:68850200-68853800	Weak transcription	Liver	Liver
13	chr14:68850200-68861000	Enhancers	Colon Smooth Muscle	Colon
14	chr14:68850400-68854000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:68850400-68854600	Enhancers	Fetal Heart	heart
16	chr14:68850400-68857600	Weak transcription	Small Intestine	intestine
17	chr14:68850800-68853600	Weak transcription	Primary T cells from cord blood	blood
18	chr14:68850800-68859000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:68851200-68853600	Enhancers	Spleen	Spleen
20	chr14:68851400-68853800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:68851400-68854200	Weak transcription	GM12878-XiMat	blood
22	chr14:68851400-68854600	Enhancers	Fetal Lung	lung
23	chr14:68851400-68857400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:68851800-68853800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:68851800-68858000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:68851800-68858400	Weak transcription	Fetal Intestine Large	intestine
27	chr14:68851800-68858800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:68851800-68859000	Weak transcription	Primary B cells from cord blood	blood
29	chr14:68851800-68859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:68851800-68861000	Weak transcription	Stomach Mucosa	stomach
31	chr14:68852000-68853800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:68852000-68853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:68852000-68853800	Weak transcription	HMEC	breast
34	chr14:68852000-68857000	Weak transcription	NHDF-Ad	bronchial
35	chr14:68852000-68857800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:68852000-68858000	Weak transcription	Fetal Intestine Small	intestine
37	chr14:68852000-68858000	Weak transcription	Pancreas	Pancrea
38	chr14:68852000-68859000	Weak transcription	Left Ventricle	heart
39	chr14:68852000-68859000	Weak transcription	Right Ventricle	heart
40	chr14:68852000-68859400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:68852200-68858000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:68852200-68858200	Weak transcription	Placenta	Placenta
43	chr14:68852200-68859400	Weak transcription	Lung	lung
44	chr14:68852200-68864200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:68852400-68853600	Weak transcription	Brain Anterior Caudate	brain
46	chr14:68852400-68853800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:68852400-68853800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:68852400-68854600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr14:68852400-68859000	Weak transcription	Right Atrium	heart
50	chr14:68852400-68862600	Enhancers	Fetal Stomach	stomach

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