Variant report

Variant	rs12594826
Chromosome Location	chr15:74752573-74752574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74752458-74752601	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:74752546-74754142	SK-N-MC	brain:	n/a	n/a
3	MXI1	chr15:74752547-74754695	SK-N-SH	brain:	n/a	n/a
4	PML	chr15:74752553-74754437	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:74752550-74754644	GM12878	blood:	n/a	n/a
6	BCLAF1	chr15:74752539-74754291	GM12878	blood:	n/a	chr15:74753566-74753575 chr15:74753466-74753479 chr15:74752803-74752812
7	MTA3	chr15:74752424-74754820	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:74752570-74754536	GM18505	blood:	n/a	n/a
9	NFATC1	chr15:74752546-74754249	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74740802..74742938-chr15:74751903..74754187,4	K562	blood:
2	chr15:74751132..74753039-chr20:50911439..50913832,2	MCF-7	breast:
3	chr15:74724949..74728351-chr15:74752030..74754909,4	K562	blood:
4	chr15:74749825..74755412-chr15:74831975..74836764,7	K562	blood:
5	chr15:74752565..74755217-chr15:74831873..74834547,2	MCF-7	breast:
6	chr15:74741955..74744869-chr15:74750008..74755464,5	K562	blood:
7	chr15:74751346..74753406-chr15:74872980..74874906,2	K562	blood:
8	chr15:74752377..74755555-chr15:74772398..74775932,4	MCF-7	breast:
9	chr15:74744211..74746229-chr15:74751385..74754144,2	MCF-7	breast:
10	chr15:74752041..74753655-chr15:74907402..74909986,3	K562	blood:
11	chr15:74751343..74754967-chr15:74831975..74835233,5	K562	blood:
12	chr15:74751774..74754602-chr15:74987400..74989019,2	K562	blood:
13	chr15:74751104..74753940-chr15:74907025..74909601,4	MCF-7	breast:

No data

Variant related genes	Relation type
UBL7-AS1	TF binding region
ENSG00000179361	Chromatin interaction
ENSG00000260103	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12591497	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12592893	0.87[AMR][1000 genomes]
rs12594105	0.90[AFR][1000 genomes]
rs12594462	0.87[AMR][1000 genomes]
rs12594486	1.00[AFR][1000 genomes]
rs16953854	1.00[AFR][1000 genomes]
rs16969096	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16969770	1.00[AFR][1000 genomes]
rs56679513	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57386020	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59390045	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59457315	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59789565	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59976160	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60419116	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60546922	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61153292	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8027459	0.83[AMR][1000 genomes];0.81[EUR][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	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:74735200-74752600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:74737800-74752600	Weak transcription	HUVEC	blood vessel
4	chr15:74742000-74752600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:74742800-74752600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:74743000-74752600	Weak transcription	Psoas Muscle	Psoas
7	chr15:74743200-74752600	Weak transcription	Stomach Mucosa	stomach
8	chr15:74743600-74752600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:74743600-74753000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:74744800-74752600	Weak transcription	NHLF	lung
11	chr15:74744800-74753000	Weak transcription	Esophagus	oesophagus
12	chr15:74745000-74752600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:74745000-74753000	Weak transcription	Aorta	Aorta
14	chr15:74746000-74752600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:74746000-74752600	Weak transcription	Colonic Mucosa	Colon
16	chr15:74746000-74752600	Weak transcription	Gastric	stomach
17	chr15:74746600-74752600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:74746600-74752600	Weak transcription	Fetal Heart	heart
19	chr15:74746600-74752600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:74746600-74752600	Weak transcription	Osteobl	bone
21	chr15:74746600-74752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:74747000-74752600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:74747400-74752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr15:74747800-74752600	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:74747800-74752600	Weak transcription	Fetal Brain Female	brain
26	chr15:74748000-74752600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:74748000-74752600	Weak transcription	A549	lung
28	chr15:74748000-74752800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:74748200-74752600	Weak transcription	Fetal Kidney	kidney
30	chr15:74749000-74752600	Weak transcription	HSMM	muscle
31	chr15:74749000-74752600	Weak transcription	HSMMtube	muscle
32	chr15:74749000-74752600	Weak transcription	K562	blood
33	chr15:74749000-74752600	Weak transcription	NHDF-Ad	bronchial
34	chr15:74749000-74752600	Weak transcription	NHEK	skin
35	chr15:74749200-74752600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:74749200-74752600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:74749200-74752600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:74749200-74752600	Weak transcription	NH-A	brain
39	chr15:74749400-74752600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:74749400-74752600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:74749400-74752600	Weak transcription	Brain Substantia Nigra	brain
42	chr15:74749400-74752600	Weak transcription	Fetal Lung	lung
43	chr15:74749400-74752600	Weak transcription	Spleen	Spleen
44	chr15:74749400-74752800	Weak transcription	Ovary	ovary
45	chr15:74749400-74752800	Weak transcription	Pancreas	Pancrea
46	chr15:74749600-74752600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:74749600-74752600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:74749600-74752600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:74749600-74752600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:74749600-74752600	Weak transcription	Rectal Smooth Muscle	rectum

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