Variant report

Variant	rs566994134
Chromosome Location	chr5:154134637-154134638
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	FOSL2	chr5:154134470-154134920	HepG2	liver:	n/a	n/a
2	CTCF	chr5:154134540-154134690	GM12865	blood:	n/a	chr5:154134548-154134561
3	CEBPB	chr5:154134299-154134943	A549	lung:	n/a	n/a
4	YY1	chr5:154134135-154135991	ECC-1	luminal epithelium:	n/a	chr5:154135832-154135846 chr5:154134391-154134400 chr5:154135945-154135959
5	WRNIP1	chr5:154133876-154134738	GM12878	blood:	n/a	n/a
6	RAD21	chr5:154134324-154134908	MCF-7	breast:	n/a	n/a
7	YY1	chr5:154134172-154134769	K562	blood:	n/a	chr5:154134391-154134400
8	CTCF	chr5:154134540-154134690	HMF	breast:	n/a	chr5:154134548-154134561
9	EP300	chr5:154134335-154134864	T-47D	breast:	n/a	chr5:154134558-154134574 chr5:154134391-154134400
10	E2F6	chr5:154134120-154134939	Hela-S3	cervix:	n/a	chr5:154134136-154134145 chr5:154134202-154134212
11	TCF12	chr5:154133420-154136643	A549	lung:	n/a	chr5:154133494-154133502 chr5:154134317-154134324
12	CREB1	chr5:154134255-154135097	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr5:154133822-154136192	K562	blood:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154134650-154134659 chr5:154134657-154134668 chr5:154134658-154134667
14	PAX5	chr5:154134151-154134911	GM12892	blood:	n/a	n/a
15	ZKSCAN1	chr5:154134214-154134770	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:154133997-154135429	PANC-1	pancreas:	n/a	n/a
17	TCF12	chr5:154134183-154135580	ECC-1	luminal epithelium:	n/a	chr5:154134317-154134324
18	CEBPD	chr5:154134379-154134814	K562	blood:	n/a	n/a
19	PBX3	chr5:154134327-154135690	A549	lung:	n/a	n/a
20	SIN3AK20	chr5:154134213-154137170	PANC-1	pancreas:	n/a	n/a
21	CTCF	chr5:154134600-154134750	RPTEC	kidney:	n/a	n/a
22	POU2F2	chr5:154134505-154134726	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr5:154134505-154134749	HepG2	liver:	n/a	n/a
24	EGR1	chr5:154134382-154135434	K562	blood:	n/a	chr5:154134388-154134398 chr5:154135301-154135311 chr5:154135262-154135276 chr5:154134666-154134679 chr5:154134667-154134676 chr5:154134389-154134399 chr5:154134385-154134400 chr5:154134386-154134399 chr5:154135261-154135274 chr5:154134386-154134399
25	E2F4	chr5:154134117-154135572	K562	blood:	n/a	chr5:154134136-154134145 chr5:154134202-154134212 chr5:154135302-154135311
26	GTF2F1	chr5:154134075-154134732	K562	blood:	n/a	n/a
27	RCOR1	chr5:154134389-154134863	HepG2	liver:	n/a	n/a
28	CREB1	chr5:154134459-154134809	A549	lung:	n/a	n/a
29	TAF1	chr5:154134428-154134674	GM12891	blood:	n/a	n/a
30	POLR2A	chr5:154133143-154136943	K562	blood:	n/a	n/a
31	SIN3A	chr5:154134089-154134760	GM12878	blood:	n/a	chr5:154134277-154134290
32	TCF12	chr5:154134362-154134760	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr5:154134136-154134719	A549	lung:	n/a	chr5:154134277-154134290 chr5:154134592-154134605
34	CTCF	chr5:154134560-154134710	GM12870	blood:	n/a	n/a
35	USF1	chr5:154134437-154134746	A549	lung:	n/a	chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
36	CTCF	chr5:154134500-154134650	GM12866	blood:	n/a	chr5:154134548-154134561
37	EP300	chr5:154134278-154134765	H1-hESC	embryonic stem cell:	n/a	chr5:154134558-154134574 chr5:154134283-154134299 chr5:154134391-154134400
38	BCLAF1	chr5:154134300-154134925	K562	blood:	n/a	n/a
39	CTCF	chr5:154134600-154134750	AG09309	skin:	n/a	n/a
40	UBTF	chr5:154134102-154136984	K562	blood:	n/a	n/a
41	TAF1	chr5:154134058-154135376	H1-hESC	embryonic stem cell:	n/a	n/a
42	EP300	chr5:154134396-154134793	GM12878	blood:	n/a	chr5:154134558-154134574
43	CTCF	chr5:154134520-154134670	AG04450	lung:	n/a	chr5:154134548-154134561
44	RAD21	chr5:154134462-154134974	K562	blood:	n/a	n/a
45	CTCF	chr5:154134560-154134710	Caco-2	colon:	n/a	n/a
46	ZNF143	chr5:154134198-154134917	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr5:154134403-154134772	H1-hESC	embryonic stem cell:	n/a	chr5:154134548-154134561
48	POLR2A	chr5:154134056-154135301	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:154133745-154137338	PANC-1	pancreas:	n/a	n/a
50	CTCF	chr5:154134540-154134690	HCT-116	colon:	n/a	chr5:154134548-154134561

No.	Distal block	Cell Line	Cell type
1	chr1:149857405..149859778-chr5:154134028..154135572,2	MCF-7	breast:
2	chr5:154059571..154067369-chr5:154132796..154138140,13	K562	blood:
3	chr1:161369209..161370167-chr5:154134118..154134820,2	Hela-S3	cervix:
4	chr5:154091014..154094062-chr5:154133007..154138054,7	MCF-7	breast:
5	chr19:34286193..34287142-chr5:154134023..154134959,2	Hela-S3	cervix:
6	chr5:154134100..154134844-chr7:112758082..112758656,2	Hela-S3	cervix:
7	chr2:241937634..241938153-chr5:154134116..154135051,2	MCF-7	breast:
8	chr5:154090008..154095548-chr5:154132332..154137735,10	MCF-7	breast:
9	chr5:154133833..154138436-chr5:154316104..154319386,7	K562	blood:
10	chr5:154106800..154109528-chr5:154133013..154134653,2	K562	blood:
11	chr5:154133318..154137368-chr5:154208082..154212477,8	MCF-7	breast:
12	chr15:93351261..93351942-chr5:154134569..154135490,2	Hela-S3	cervix:
13	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
14	chr5:154092401..154094147-chr5:154134615..154136737,2	K562	blood:
15	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
16	chr5:154079413..154083903-chr5:154131964..154138437,9	MCF-7	breast:
17	chr11:118955268..118955808-chr5:154134105..154134835,2	HCT-116	colon:
18	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
19	chr17:59475759..59478103-chr5:154134019..154136422,2	MCF-7	breast:
20	chr5:154120997..154122721-chr5:154132198..154134766,2	K562	blood:
21	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
22	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
23	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
24	chr5:154134362..154135956-chr5:179498285..179499281,4	HCT-116	colon:
25	chr5:154134478..154136259-chr5:156568877..156571318,2	K562	blood:
26	chr5:154133441..154135046-chr5:154198681..154200668,2	MCF-7	breast:
27	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:
28	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
29	chr5:154133384..154135677-chr5:154316370..154317979,2	MCF-7	breast:
30	chr5:154133984..154137613-chr5:154316996..154320177,4	K562	blood:
31	chr5:154134637..154137206-chr5:154228501..154230611,2	MCF-7	breast:
32	chr17:39844723..39845400-chr5:154133976..154134932,2	Hela-S3	cervix:
33	chr5:154133720..154135863-chr5:154214585..154216471,2	K562	blood:
34	chr2:241938134..241939654-chr5:154133580..154135809,2	K562	blood:

Variant related genes	Relation type
LARP1	TF binding region
ENSG00000241187	Chromatin interaction
ENSG00000258922	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000256269	Chromatin interaction
ENSG00000162804	Chromatin interaction
ENSG00000221552	Chromatin interaction
ENSG00000214194	Chromatin interaction
ENSG00000263478	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000082516	Chromatin interaction
ENSG00000155868	Chromatin interaction
ENSG00000135077	Chromatin interaction
ENSG00000263361	Chromatin interaction
ENSG00000113263	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000153885	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3406300	chr5:154133209-154138557	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	esv3442367	chr5:154133259-154137657	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
4	esv3371359	chr5:154133784-154136632	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	esv3375024	chr5:154134009-154135957	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154133400-154137200	Active TSS	Lung	lung
2	chr5:154133600-154135800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:154133600-154137600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:154133800-154135600	Active TSS	Brain Germinal Matrix	brain
5	chr5:154133800-154137200	Active TSS	Esophagus	oesophagus
6	chr5:154133800-154137600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:154133800-154137600	Active TSS	Psoas Muscle	Psoas
8	chr5:154134000-154135000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:154134000-154137600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:154134000-154137600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:154134000-154137600	Active TSS	Aorta	Aorta
12	chr5:154134000-154137600	Active TSS	Brain Anterior Caudate	brain
13	chr5:154134000-154137600	Active TSS	Brain Substantia Nigra	brain
14	chr5:154134000-154137600	Active TSS	Fetal Brain Female	brain
15	chr5:154134000-154137600	Active TSS	Fetal Kidney	kidney
16	chr5:154134000-154137600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr5:154134000-154137800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:154134000-154137800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:154134000-154137800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:154134000-154138200	Active TSS	Ovary	ovary
21	chr5:154134000-154138400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:154134000-154138600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:154134200-154135400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:154134200-154135600	Transcr. at gene 5' and 3'	Right Atrium	heart
25	chr5:154134200-154135800	Active TSS	Dnd41	blood
26	chr5:154134200-154137000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr5:154134200-154137000	Active TSS	Spleen	Spleen
28	chr5:154134200-154137200	Active TSS	Gastric	stomach
29	chr5:154134200-154137600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:154134200-154137600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:154134200-154137600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr5:154134200-154137600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:154134200-154137600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:154134200-154137600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:154134200-154137600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:154134200-154137600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:154134200-154137600	Active TSS	Brain Cingulate Gyrus	brain
38	chr5:154134200-154137600	Active TSS	Brain Hippocampus Middle	brain
39	chr5:154134200-154137600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:154134200-154137600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:154134200-154137600	Active TSS	Colon Smooth Muscle	Colon
42	chr5:154134200-154137600	Active TSS	Fetal Lung	lung
43	chr5:154134200-154137600	Active TSS	Fetal Stomach	stomach
44	chr5:154134200-154137600	Active TSS	Small Intestine	intestine
45	chr5:154134200-154137600	Active TSS	A549	lung
46	chr5:154134200-154137600	Active TSS	Hela-S3	cervix
47	chr5:154134200-154137800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr5:154134200-154137800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:154134200-154137800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr5:154134400-154135000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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