Variant report

Variant	rs7151431
Chromosome Location	chr14:55517424-55517425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55516344-55520058	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:55517268-55519371	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr14:55517355-55517704	SK-N-SH	brain:	n/a	n/a
4	JUN	chr14:55517373-55519468	K562	blood:	n/a	chr14:55518792-55518801
5	POLR2A	chr14:55516367-55519325	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:55517379-55517733	GM12878	blood:	n/a	n/a
7	GABPA	chr14:55517424-55519353	MCF-7	breast:	n/a	chr14:55518608-55518617 chr14:55518587-55518596 chr14:55518441-55518455
8	GABPA	chr14:55517334-55519075	MCF-7	breast:	n/a	chr14:55518608-55518617 chr14:55518587-55518596 chr14:55518441-55518455
9	POLR2A	chr14:55517183-55519173	MCF-7	breast:	n/a	n/a
10	POLR2A	chr14:55516658-55519224	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:55516343-55520450	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:55516204-55517781	K562	blood:	n/a	n/a
13	POLR2A	chr14:55517400-55520841	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr14:55517422-55517814	HepG2	liver:	n/a	chr14:55517590-55517602
15	TCF12	chr14:55517367-55519212	A549	lung:	n/a	n/a
16	POLR2A	chr14:55517290-55519076	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:55517358-55519319	U87	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55517347..55519818-chr14:55736283..55739378,3	MCF-7	breast:
2	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
3	chr14:55368105..55371463-chr14:55516987..55520396,7	MCF-7	breast:
4	chr14:55516892..55519791-chr14:55737278..55740152,4	K562	blood:
5	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
6	chr14:55491921..55500295-chr14:55515389..55520812,24	K562	blood:
7	chr14:55491992..55498342-chr14:55515529..55520367,21	K562	blood:
8	chr14:55516908..55519746-chr14:55654326..55658338,3	K562	blood:
9	chr14:55517345..55520488-chr14:55656247..55658381,3	K562	blood:
10	chr14:55517047..55520032-chr14:55601675..55604188,2	MCF-7	breast:
11	chr14:54906668..54909344-chr14:55516272..55518741,3	K562	blood:
12	chr14:55490790..55495805-chr14:55515486..55522658,19	MCF-7	breast:
13	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
14	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:

No data

Variant related genes	Relation type
MAPK1IP1L	TF binding region
ENSG00000178974	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000131979	Chromatin interaction
ENSG00000100528	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000258413	Chromatin interaction
ENSG00000126787	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1002054	0.89[ASN][1000 genomes]
rs10135721	0.84[ASN][1000 genomes]
rs10145170	0.88[ASN][1000 genomes]
rs10145268	0.89[ASN][1000 genomes]
rs10220693	0.86[ASN][1000 genomes]
rs11849090	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11849878	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851178	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1187876	0.88[ASN][1000 genomes]
rs1187877	0.88[ASN][1000 genomes]
rs1187878	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1187881	0.81[ASN][1000 genomes]
rs1187882	0.89[ASN][1000 genomes]
rs1201378	0.87[ASN][1000 genomes]
rs1209087	0.87[ASN][1000 genomes]
rs13379159	0.89[ASN][1000 genomes]
rs17128128	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128132	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128145	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17832311	0.89[ASN][1000 genomes]
rs1952085	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2251366	0.91[ASN][1000 genomes]
rs2340943	0.82[ASN][1000 genomes]
rs3742564	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55843949	0.82[ASN][1000 genomes]
rs56725788	0.89[ASN][1000 genomes]
rs60805089	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6572999	0.89[ASN][1000 genomes]
rs6573000	0.86[ASN][1000 genomes]
rs7141975	0.86[ASN][1000 genomes]
rs7144652	0.86[ASN][1000 genomes]
rs7149965	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7150145	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7151224	0.90[ASN][1000 genomes]
rs7161656	0.90[ASN][1000 genomes]
rs748017	0.81[ASN][1000 genomes]
rs8005399	0.89[ASN][1000 genomes]
rs8008134	0.89[ASN][1000 genomes]
rs8021929	0.86[ASN][1000 genomes]
rs8022238	0.84[ASN][1000 genomes]
rs8022405	0.89[ASN][1000 genomes]
rs9323278	0.89[ASN][1000 genomes]
rs9806049	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv84529	chr14:55512778-55517728	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55494400-55517600	Weak transcription	Lung	lung
2	chr14:55495000-55517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55495000-55517600	Weak transcription	Esophagus	oesophagus
4	chr14:55495200-55517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:55495200-55517600	Weak transcription	Colonic Mucosa	Colon
6	chr14:55495200-55517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55495200-55517800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:55495400-55517600	Weak transcription	Right Ventricle	heart
9	chr14:55495600-55517600	Weak transcription	Brain Substantia Nigra	brain
10	chr14:55495600-55517600	Weak transcription	Fetal Kidney	kidney
11	chr14:55495600-55517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:55496200-55517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:55496200-55517600	Weak transcription	Fetal Heart	heart
14	chr14:55498400-55517600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:55507800-55517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:55508400-55517600	Weak transcription	Fetal Intestine Small	intestine
17	chr14:55510200-55517600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:55510200-55517800	Weak transcription	Aorta	Aorta
19	chr14:55510600-55517600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:55510600-55517600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:55510800-55517600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:55510800-55517600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:55510800-55517600	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:55510800-55517600	Weak transcription	Left Ventricle	heart
25	chr14:55510800-55517600	Weak transcription	Stomach Mucosa	stomach
26	chr14:55510800-55517600	Weak transcription	Spleen	Spleen
27	chr14:55510800-55517600	Weak transcription	Hela-S3	cervix
28	chr14:55510800-55517800	Weak transcription	Thymus	Thymus
29	chr14:55511000-55517600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:55511000-55517600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:55511000-55517600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:55511000-55517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:55511000-55517600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:55511000-55517600	Weak transcription	Primary T cells from cord blood	blood
35	chr14:55511000-55517600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:55511000-55517600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:55511000-55517600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:55511000-55517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:55511000-55517600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:55511000-55517600	Weak transcription	Adipose Nuclei	Adipose
41	chr14:55511000-55517600	Weak transcription	Liver	Liver
42	chr14:55511000-55517600	Weak transcription	Brain Angular Gyrus	brain
43	chr14:55511000-55517600	Weak transcription	Brain Anterior Caudate	brain
44	chr14:55511000-55517600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:55511000-55517600	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:55511000-55517600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:55511000-55517600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:55511000-55517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:55511000-55517600	Weak transcription	Fetal Brain Male	brain
50	chr14:55511000-55517600	Weak transcription	Fetal Brain Female	brain

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