Variant report

Variant	rs449865
Chromosome Location	chr14:65006652-65006653
allele	C/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	ELF1	chr14:65006598-65008093	GM12878	blood:	n/a	chr14:65007278-65007290
2	POLR2A	chr14:65006541-65007810	H1-hESC	embryonic stem cell:	n/a	n/a
3	HCFC1	chr14:65006646-65007711	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:65005906-65007370	Hela-S3	cervix:	n/a	n/a
5	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
6	SMARCB1	chr14:65006135-65007636	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:65006515-65007715	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr14:65005926-65007512	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:65005875-65007822	MCF-7	breast:	n/a	n/a
10	TCF7L2	chr14:65006591-65007340	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr14:65006635-65007738	GM18526	blood:	n/a	n/a
12	TCF12	chr14:65005596-65008103	A549	lung:	n/a	chr14:65006321-65006331 chr14:65007152-65007159
13	TAF1	chr14:65006490-65007714	H1-hESC	embryonic stem cell:	n/a	n/a
14	NFIC	chr14:65006584-65007679	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:65006540-65007222	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr14:65006539-65006828	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:65006521-65007737	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr14:65006420-65007847	GM12892	blood:	n/a	n/a
19	POLR2A	chr14:65006565-65006705	A549	lung:	n/a	n/a
20	MAX	chr14:65005947-65006672	MCF-7	breast:	n/a	n/a
21	GABPA	chr14:65005634-65007527	MCF-7	breast:	n/a	chr14:65007445-65007454 chr14:65006378-65006387
22	ELF1	chr14:65006533-65009416	MCF-7	breast:	n/a	chr14:65007278-65007290
23	POLR2A	chr14:65006017-65008275	MCF-7	breast:	n/a	n/a
24	MAX	chr14:65006531-65007752	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr14:65006539-65007738	SK-N-SH	brain:	n/a	n/a
26	E2F6	chr14:65006548-65007925	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr14:65006483-65007939	A549	lung:	n/a	chr14:65007289-65007301 chr14:65007290-65007299 chr14:65007289-65007301 chr14:65007075-65007096
28	TCF7L2	chr14:65006643-65007330	HCT-116	colon:	n/a	n/a
29	POLR2A	chr14:65006553-65007697	Raji	blood:	n/a	n/a
30	POLR2A	chr14:65005904-65007803	HUVEC	blood vessel:	n/a	n/a
31	SETDB1	chr14:65005944-65006737	U2OS	brain:	n/a	n/a
32	MAX	chr14:65006612-65007391	GM12878	blood:	n/a	n/a
33	TAF1	chr14:65006585-65007715	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr14:65006634-65007695	GM19099	blood:	n/a	n/a
35	POLR2A	chr14:65006521-65007814	A549	lung:	n/a	n/a
36	CTCF	chr14:65006601-65007814	SK-N-SH	brain:	n/a	chr14:65007186-65007199 chr14:65007189-65007202
37	POLR2A	chr14:65006598-65007269	HCT-116	colon:	n/a	n/a
38	POLR2A	chr14:65006571-65006804	A549	lung:	n/a	n/a
39	POLR2A	chr14:65006630-65007903	ProgFib	skin:	n/a	n/a
40	REST	chr14:65006631-65007988	A549	lung:	n/a	chr14:65007070-65007088 chr14:65007468-65007486 chr14:65007430-65007448 chr14:65007389-65007399 chr14:65007384-65007397 chr14:65007186-65007204 chr14:65007449-65007459
41	POLR2A	chr14:65006613-65007822	HUVEC	blood vessel:	n/a	n/a
42	SIX5	chr14:65006558-65007997	A549	lung:	n/a	n/a
43	MAX	chr14:65006543-65008040	MCF-7	breast:	n/a	n/a
44	POLR2A	chr14:65005728-65008037	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr14:65006557-65007781	SK-N-SH	brain:	n/a	n/a
46	TAF1	chr14:65006582-65007849	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr14:65005823-65007195	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:65006590-65007245	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:65006627-65007640	U87	brain:	n/a	n/a
50	PML	chr14:65006583-65007665	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	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:65006312..65006877-chr18:3653628..3654511,2	HCT-116	colon:
5	chr14:64988143..64990019-chr14:65005055..65006993,2	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
HSPA2	TF binding region
ENSG00000259160	TF binding region
ENSG00000165807	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000140009	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs45545942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59553915	1.00[AMR][1000 genomes]
rs59981106	1.00[AMR][1000 genomes]
rs61457510	0.83[AFR][1000 genomes]
rs61676255	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269759	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65005800-65007000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr14:65005800-65007400	Active TSS	Duodenum Mucosa	Duodenum
3	chr14:65005800-65007400	Active TSS	Fetal Kidney	kidney
4	chr14:65005800-65007600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:65005800-65007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:65005800-65007600	Active TSS	Colonic Mucosa	Colon
7	chr14:65005800-65007600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:65005800-65007600	Active TSS	Esophagus	oesophagus
9	chr14:65005800-65007600	Active TSS	Rectal Smooth Muscle	rectum
10	chr14:65005800-65007600	Active TSS	Osteobl	bone
11	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
13	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
14	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:65006000-65006800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:65006000-65006800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:65006000-65007000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr14:65006000-65007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:65006000-65007000	Active TSS	Placenta Amnion	Placenta Amnion
20	chr14:65006000-65007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:65006000-65007200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:65006000-65007200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr14:65006000-65007400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:65006000-65007400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:65006000-65007400	Active TSS	Pancreas	Pancrea
26	chr14:65006000-65007600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:65006000-65007600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:65006000-65007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:65006000-65007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr14:65006000-65007600	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr14:65006000-65007600	Active TSS	Left Ventricle	heart
32	chr14:65006000-65007600	Active TSS	Stomach Mucosa	stomach
33	chr14:65006000-65007800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:65006000-65008600	Active TSS	Right Atrium	heart
35	chr14:65006000-65010400	Active TSS	Aorta	Aorta
36	chr14:65006000-65011400	Active TSS	Colon Smooth Muscle	Colon
37	chr14:65006000-65012000	Active TSS	Brain Substantia Nigra	brain
38	chr14:65006200-65007000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:65006200-65007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:65006200-65007000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr14:65006200-65007200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:65006200-65007200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:65006200-65007200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr14:65006200-65007200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:65006200-65007400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:65006200-65007400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:65006200-65007400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr14:65006200-65007400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:65006200-65007400	Active TSS	Fetal Heart	heart
50	chr14:65006200-65007400	Active TSS	Fetal Intestine Large	intestine

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