Variant report

Variant	rs182208721
Chromosome Location	chr14:69011147-69011148
allele	C/T
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	FOXM1	chr14:69010956-69012525	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr14:69010813-69011181	HCT-116	colon:	n/a	n/a
3	FOS	chr14:69010793-69011460	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr14:69010859-69011464	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr14:69010796-69011714	IMR90	lung:	n/a	n/a
6	FOS	chr14:69010798-69011487	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:69010858-69011195	HCT-116	colon:	n/a	n/a
8	STAT3	chr14:69010765-69011389	MCF10A-Er-Src	breast:	n/a	n/a
9	EGR1	chr14:69010639-69011456	HCT-116	colon:	n/a	chr14:69010971-69010984 chr14:69010972-69010983 chr14:69010970-69010984 chr14:69010971-69010984 chr14:69010972-69010982 chr14:69010972-69010983 chr14:69010972-69010982 chr14:69010966-69010988
10	STAT3	chr14:69010870-69011425	MCF10A-Er-Src	breast:	n/a	n/a
11	NFIC	chr14:69010408-69011447	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr14:69010283-69012485	MCF10A-Er-Src	breast:	n/a	n/a
13	PBX3	chr14:69010525-69011299	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr14:69010965-69011871	ECC-1	luminal epithelium:	n/a	chr14:69011438-69011454
15	EGR1	chr14:69010686-69011302	HCT-116	colon:	n/a	chr14:69010971-69010984 chr14:69010972-69010983 chr14:69010970-69010984 chr14:69010971-69010984 chr14:69010972-69010982 chr14:69010972-69010983 chr14:69010972-69010982 chr14:69010966-69010988
16	POLR2A	chr14:69010249-69011449	U87	brain:	n/a	n/a
17	RFX5	chr14:69010453-69011456	SK-N-SH	brain:	n/a	n/a
18	TCF12	chr14:69010976-69012489	ECC-1	luminal epithelium:	n/a	n/a
19	EP300	chr14:69010757-69012531	ECC-1	luminal epithelium:	n/a	chr14:69012108-69012122
20	CEBPB	chr14:69010894-69011277	IMR90	lung:	n/a	n/a
21	FOS	chr14:69010802-69011457	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr14:69010756-69011289	SK-N-SH_RA	brain:	n/a	n/a
23	MYC	chr14:69010741-69011575	MCF10A-Er-Src	breast:	n/a	chr14:69011381-69011392
24	FOSL2	chr14:69010763-69011306	SK-N-SH	brain:	n/a	n/a
25	EP300	chr14:69011090-69011927	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr14:69010385-69011863	U87	brain:	n/a	n/a
27	TEAD4	chr14:69011111-69011969	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr14:69010334-69011863	U87	brain:	n/a	n/a
29	E2F4	chr14:69010891-69011336	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr14:69010904-69011396	MCF10A-Er-Src	breast:	n/a	n/a
31	NFIC	chr14:69010846-69012388	ECC-1	luminal epithelium:	n/a	chr14:69011438-69011454
32	POLR2A	chr14:69010843-69011680	IMR90	lung:	n/a	n/a
33	RAD21	chr14:69010880-69011182	SK-N-SH_RA	brain:	n/a	n/a
34	FOS	chr14:69010836-69011334	HUVEC	blood vessel:	n/a	n/a
35	MAFK	chr14:69010899-69011349	IMR90	lung:	n/a	n/a
36	POLR2A	chr14:69010545-69011472	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr14:69010851-69011515	MCF10A-Er-Src	breast:	n/a	chr14:69011381-69011392
38	FOS	chr14:69010848-69011427	MCF10A-Er-Src	breast:	n/a	n/a
39	RAD21	chr14:69010800-69011292	IMR90	lung:	n/a	n/a
40	GATA3	chr14:69010440-69011348	SK-N-SH	brain:	n/a	chr14:69011224-69011232

Variant related genes	Relation type
RAD51B	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv516239	chr14:69010690-69025870	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69002400-69016600	Weak transcription	Gastric	stomach
2	chr14:69005000-69013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:69005000-69015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:69006000-69014600	Enhancers	NHDF-Ad	bronchial
5	chr14:69006200-69012000	Weak transcription	Lung	lung
6	chr14:69006400-69013200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:69006400-69013800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:69006800-69011200	Weak transcription	Placenta	Placenta
9	chr14:69006800-69011600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:69006800-69012800	Weak transcription	Esophagus	oesophagus
11	chr14:69006800-69013800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:69006800-69014200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:69006800-69014400	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:69006800-69014600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:69007000-69011400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr14:69007200-69013400	Weak transcription	Right Ventricle	heart
17	chr14:69007400-69013600	Weak transcription	Fetal Heart	heart
18	chr14:69007800-69013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:69007800-69014000	Weak transcription	Brain Anterior Caudate	brain
20	chr14:69008000-69013800	Enhancers	HMEC	breast
21	chr14:69008000-69013800	Enhancers	HSMM	muscle
22	chr14:69008200-69013400	Weak transcription	Ovary	ovary
23	chr14:69008400-69011600	Weak transcription	Fetal Intestine Small	intestine
24	chr14:69008400-69011800	Weak transcription	Spleen	Spleen
25	chr14:69008400-69013600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:69008400-69013600	Weak transcription	Fetal Kidney	kidney
27	chr14:69008400-69013800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:69008400-69014200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:69009000-69012200	Enhancers	Osteobl	bone
30	chr14:69009000-69013400	Enhancers	NHEK	skin
31	chr14:69009000-69013800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
33	chr14:69009200-69012200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr14:69009200-69013400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:69009200-69016600	Enhancers	Colon Smooth Muscle	Colon
36	chr14:69009400-69013400	Enhancers	Rectal Smooth Muscle	rectum
37	chr14:69009400-69017600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:69009600-69014600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:69009600-69016000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:69009800-69012400	Enhancers	Psoas Muscle	Psoas
41	chr14:69009800-69012400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:69009800-69013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:69010000-69011800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:69010000-69013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:69010200-69012000	Enhancers	Fetal Lung	lung
46	chr14:69010200-69012200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:69010200-69013400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:69010400-69011400	Enhancers	Adipose Nuclei	Adipose
49	chr14:69010400-69011400	Enhancers	Stomach Smooth Muscle	stomach
50	chr14:69010400-69012000	Enhancers	Right Atrium	heart

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