Variant report

Variant	rs45557336
Chromosome Location	chr14:65007223-65007224
allele	G/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	CTCF	chr14:65007140-65007290	HVMF	connective:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
2	CTCF	chr14:65007080-65007230	GM12869	blood:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
3	POLR2A	chr14:65006781-65007688	GM12878	blood:	n/a	n/a
4	PAX5	chr14:65006811-65007442	GM12878	blood:	n/a	chr14:65007166-65007175
5	CTCF	chr14:65007080-65007230	Hela-S3	cervix:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
6	MAFK	chr14:65006925-65007524	Hela-S3	cervix:	n/a	chr14:65006960-65006969
7	CTCF	chr14:65007140-65007290	GM12874	blood:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
8	POLR2A	chr14:65006815-65007683	GM12891	blood:	n/a	n/a
9	HNF4A	chr14:65006942-65007245	HepG2	liver:	n/a	chr14:65007124-65007139
10	ELF1	chr14:65006598-65008093	GM12878	blood:	n/a	chr14:65007278-65007290
11	CTCF	chr14:65007100-65007250	GM12873	blood:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
12	POLR2A	chr14:65006541-65007810	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:65007048-65007306	ProgFib	skin:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
14	CTCF	chr14:65007080-65007230	NHDF-neo	bronchial:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
15	POLR2A	chr14:65006844-65007766	GM12892	blood:	n/a	n/a
16	NFYA	chr14:65006839-65007779	Hela-S3	cervix:	n/a	chr14:65007085-65007095 chr14:65007082-65007097 chr14:65007086-65007098 chr14:65007082-65007097 chr14:65007083-65007097
17	PAX5	chr14:65006949-65007506	GM12892	blood:	n/a	chr14:65007166-65007175
18	RUNX3	chr14:65006728-65007639	GM12878	blood:	n/a	n/a
19	CTCF	chr14:65006981-65007376	A549	lung:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
20	PBX3	chr14:65006835-65007689	A549	lung:	n/a	chr14:65007089-65007109 chr14:65007085-65007094 chr14:65007319-65007339
21	FOSL2	chr14:65006995-65007359	HepG2	liver:	n/a	chr14:65007084-65007093
22	SP2	chr14:65006727-65007584	H1-hESC	embryonic stem cell:	n/a	chr14:65007084-65007094 chr14:65007088-65007111 chr14:65007318-65007341
23	HCFC1	chr14:65006646-65007711	Hela-S3	cervix:	n/a	n/a
24	TBP	chr14:65006980-65007659	GM12878	blood:	n/a	n/a
25	SIN3A	chr14:65006850-65007545	H1-hESC	embryonic stem cell:	n/a	chr14:65006868-65006881 chr14:65007472-65007486
26	CTCF	chr14:65006836-65007736	MCF-7	breast:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
27	CTCF	chr14:65007100-65007250	HPF	lung:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
28	CTCF	chr14:65007100-65007250	GM12801	blood:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
29	CTCF	chr14:65007140-65007290	HFF-Myc	foreskin:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
30	CTCF	chr14:65007120-65007270	BJ	skin:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
31	POLR2A	chr14:65005906-65007370	Hela-S3	cervix:	n/a	n/a
32	HA-E2F1	chr14:65005879-65007597	MCF-7	breast:	n/a	chr14:65006336-65006347 chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
33	POU2F2	chr14:65007033-65007462	GM12878	blood:	n/a	chr14:65007245-65007255 chr14:65007243-65007258 chr14:65007245-65007255 chr14:65007246-65007257 chr14:65007246-65007256
34	PAX5	chr14:65006920-65007449	GM12878	blood:	n/a	chr14:65007166-65007175
35	EP300	chr14:65007097-65007276	GM12878	blood:	n/a	n/a
36	SMARCB1	chr14:65006135-65007636	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr14:65006813-65007266	HCT-116	colon:	n/a	n/a
38	EBF1	chr14:65007005-65007491	GM12878	blood:	n/a	n/a
39	CTCF	chr14:65007120-65007270	AG10803	skin:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
40	CTCF	chr14:65007100-65007250	NHEK	skin:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
41	ETS1	chr14:65007173-65007678	A549	lung:	n/a	chr14:65007280-65007293 chr14:65007434-65007443
42	CTCF	chr14:65007100-65007250	HPAF	blood vessel:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
43	CTCF	chr14:65007011-65007347	MCF-7	breast:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
44	NFIC	chr14:65006981-65007309	HepG2	liver:	n/a	n/a
45	CTCF	chr14:65007120-65007270	AoAF	blood vessel:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
46	POLR2A	chr14:65006515-65007715	PANC-1	pancreas:	n/a	n/a
47	CTCF	chr14:65007100-65007250	GM12866	blood:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
48	GTF2F1	chr14:65006850-65007453	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr14:65005926-65007512	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr14:65005875-65007822	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65005458..65007740-chr14:65223841..65226148,2	MCF-7	breast:
2	chr14:65005088..65007392-chr14:65188450..65190752,3	MCF-7	breast:
3	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
4	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
5	chr14:65006752..65008464-chr14:65051582..65054161,2	MCF-7	breast:
6	chr14:65005138..65007971-chr14:65016762..65019337,2	MCF-7	breast:
7	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
8	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
9	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259116	TF binding region
HSPA2	TF binding region
ENSG00000259160	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000165807	Chromatin interaction
ENSG00000214770	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17857382	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58076807	1.00[AMR][1000 genomes]
rs58080394	1.00[AMR][1000 genomes]
rs60825477	1.00[AMR][1000 genomes]
rs61212101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61457510	1.00[AMR][1000 genomes]
rs61740636	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269707	1.00[AMR][1000 genomes]
rs73269729	1.00[AMR][1000 genomes]
rs73269736	1.00[AMR][1000 genomes]
rs73269785	1.00[AMR][1000 genomes]
rs73269788	1.00[AMR][1000 genomes]
rs73271614	1.00[AMR][1000 genomes]
rs73271619	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	esv3390097	chr14:65002586-65009255	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65005800-65007400	Active TSS	Duodenum Mucosa	Duodenum
2	chr14:65005800-65007400	Active TSS	Fetal Kidney	kidney
3	chr14:65005800-65007600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:65005800-65007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:65005800-65007600	Active TSS	Colonic Mucosa	Colon
6	chr14:65005800-65007600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr14:65005800-65007600	Active TSS	Esophagus	oesophagus
8	chr14:65005800-65007600	Active TSS	Rectal Smooth Muscle	rectum
9	chr14:65005800-65007600	Active TSS	Osteobl	bone
10	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
12	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
13	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:65006000-65007400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:65006000-65007400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:65006000-65007400	Active TSS	Pancreas	Pancrea
17	chr14:65006000-65007600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:65006000-65007600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:65006000-65007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:65006000-65007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr14:65006000-65007600	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr14:65006000-65007600	Active TSS	Left Ventricle	heart
23	chr14:65006000-65007600	Active TSS	Stomach Mucosa	stomach
24	chr14:65006000-65007800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr14:65006000-65008600	Active TSS	Right Atrium	heart
26	chr14:65006000-65010400	Active TSS	Aorta	Aorta
27	chr14:65006000-65011400	Active TSS	Colon Smooth Muscle	Colon
28	chr14:65006000-65012000	Active TSS	Brain Substantia Nigra	brain
29	chr14:65006200-65007400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65006200-65007400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:65006200-65007400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr14:65006200-65007400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:65006200-65007400	Active TSS	Fetal Heart	heart
34	chr14:65006200-65007400	Active TSS	Fetal Intestine Large	intestine
35	chr14:65006200-65007400	Active TSS	Fetal Intestine Small	intestine
36	chr14:65006200-65007400	Active TSS	NHEK	skin
37	chr14:65006200-65007600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:65006200-65007600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr14:65006200-65007600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:65006200-65007600	Active TSS	Gastric	stomach
41	chr14:65006200-65007600	Active TSS	Lung	lung
42	chr14:65006200-65007600	Active TSS	Ovary	ovary
43	chr14:65006200-65007600	Active TSS	HSMM	muscle
44	chr14:65006200-65007600	Active TSS	NHDF-Ad	bronchial
45	chr14:65006200-65007800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:65006200-65007800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:65006200-65007800	Active TSS	Small Intestine	intestine
48	chr14:65006200-65007800	Active TSS	A549	lung
49	chr14:65006200-65010200	Active TSS	Psoas Muscle	Psoas
50	chr14:65006400-65007400	Active TSS	Primary T cells from cord blood	blood

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