Variant report

Variant	rs73271727
Chromosome Location	chr14:55600430-55600431
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:55600300-55600450	HVMF	connective:	n/a	n/a
2	RAD21	chr14:55599931-55600820	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr14:55600048-55600705	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:55600297-55600487	T-47D	breast:	n/a	n/a
5	POLR2A	chr14:55600081-55602200	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr14:55600340-55600490	BE2_C	brain:	n/a	n/a
7	CTCF	chr14:55600340-55600490	GM12872	blood:	n/a	n/a
8	CTCF	chr14:55600305-55600471	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr14:55600340-55600490	AG04449	skin:	n/a	n/a
10	RAD21	chr14:55600154-55600517	SK-N-SH_RA	brain:	n/a	n/a
11	RAD21	chr14:55600016-55600635	MCF-7	breast:	n/a	n/a
12	TEAD4	chr14:55600082-55600492	K562	blood:	n/a	n/a
13	CTCF	chr14:55600295-55600513	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr14:55600320-55600470	HA-sp	spinal cord:	n/a	n/a
15	CTCF	chr14:55600340-55600490	HMF	breast:	n/a	n/a
16	CTCF	chr14:55600080-55600704	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:55600340-55600490	HRE	kidney:	n/a	n/a
18	CTCF	chr14:55600340-55600490	HPF	lung:	n/a	n/a
19	CTCF	chr14:55600420-55600570	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr14:55600347-55600442	MCF-7	breast:	n/a	n/a
21	STAT3	chr14:55600331-55600731	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr14:55600320-55600470	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr14:55600280-55600430	Caco-2	colon:	n/a	n/a
24	CTCF	chr14:55600165-55600587	HCT-116	colon:	n/a	n/a
25	CTCF	chr14:55600320-55600470	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr14:55600380-55600530	AG04450	lung:	n/a	n/a
27	CTCF	chr14:55600300-55600450	NHLF	lung:	n/a	n/a
28	RAD21	chr14:55600116-55600574	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr14:55600266-55600498	K562	blood:	n/a	n/a
30	RAD21	chr14:55600187-55600520	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr14:55600304-55600503	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr14:55600380-55600530	HCM	heart:	n/a	n/a
33	FOXA1	chr14:55600281-55600528	T-47D	breast:	n/a	n/a
34	CTCF	chr14:55600297-55600495	K562	blood:	n/a	n/a
35	CTCF	chr14:55600258-55600487	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr14:55600320-55600470	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:55600197-55600606	T-47D	breast:	n/a	n/a
38	CTCF	chr14:55600266-55600558	IMR90	lung:	n/a	n/a
39	CTCF	chr14:55600133-55600679	MCF-7	breast:	n/a	n/a
40	CTCF	chr14:55600300-55600450	RPTEC	kidney:	n/a	n/a
41	CTCF	chr14:55600380-55600530	GM12872	blood:	n/a	n/a
42	CTCF	chr14:55600210-55600568	K562	blood:	n/a	n/a
43	RAD21	chr14:55600153-55600559	IMR90	lung:	n/a	n/a
44	CTCF	chr14:55600350-55600483	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr14:55600300-55600450	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr14:55600320-55600470	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr14:55599960-55600807	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr14:55600340-55600490	AoAF	blood vessel:	n/a	n/a
49	RAD21	chr14:55600312-55600524	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr14:55600320-55600470	RPTEC	kidney:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55599425..55601964-chr14:55602454..55605436,3	MCF-7	breast:
2	chr14:55555997..55556958-chr14:55600317..55600827,2	K562	blood:
3	chr14:55359557..55360396-chr14:55599807..55600483,2	MCF-7	breast:
4	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
5	chr14:55555953..55557008-chr14:55599894..55600889,11	MCF-7	breast:
6	chr14:55597715..55602179-chr14:55607312..55610754,5	MCF-7	breast:

No data

Variant related genes	Relation type
LGALS3	TF binding region
ENSG00000131981	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17253702	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56098354	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68175860	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55595400-55606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:55596200-55603200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
3	chr14:55596600-55606400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:55597000-55613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55597200-55602600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:55597200-55602800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:55597200-55602800	Weak transcription	Brain Substantia Nigra	brain
8	chr14:55597200-55603600	Weak transcription	HUVEC	blood vessel
9	chr14:55597200-55604000	Weak transcription	Aorta	Aorta
10	chr14:55597200-55604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:55597200-55604600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:55597200-55604800	Weak transcription	GM12878-XiMat	blood
13	chr14:55597200-55605200	Weak transcription	A549	lung
14	chr14:55597200-55606600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:55597200-55607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:55597400-55603600	Weak transcription	Fetal Lung	lung
17	chr14:55597600-55600600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:55597600-55602400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:55597800-55601000	Genic enhancers	Osteobl	bone
20	chr14:55597800-55601200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
21	chr14:55597800-55603600	Weak transcription	Fetal Stomach	stomach
22	chr14:55598000-55602400	Weak transcription	Lung	lung
23	chr14:55598400-55600600	Enhancers	Small Intestine	intestine
24	chr14:55598400-55607600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:55598400-55613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:55598600-55601000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:55598600-55603000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:55598600-55603600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:55598600-55607800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:55598800-55600600	Enhancers	Colon Smooth Muscle	Colon
32	chr14:55598800-55600800	Weak transcription	Esophagus	oesophagus
33	chr14:55598800-55601200	Weak transcription	Thymus	Thymus
34	chr14:55598800-55601200	Enhancers	HSMMtube	muscle
35	chr14:55598800-55602600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:55598800-55602800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:55598800-55602800	Weak transcription	Pancreas	Pancrea
38	chr14:55598800-55603600	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:55598800-55603600	Weak transcription	Placenta	Placenta
40	chr14:55598800-55603600	Weak transcription	Spleen	Spleen
41	chr14:55598800-55605200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:55598800-55605800	Weak transcription	HepG2	liver
43	chr14:55598800-55606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:55598800-55606600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:55598800-55610800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:55598800-55611800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:55598800-55613000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:55599000-55601000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:55599000-55601200	Enhancers	Fetal Heart	heart
50	chr14:55599000-55602000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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