Variant report

Variant	rs62487612
Chromosome Location	chr7:138144210-138144211
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:138143131-138146474	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA1	chr7:138144208-138144853	HepG2	liver:	n/a	n/a
3	FOXA2	chr7:138144154-138144738	HepG2	liver:	n/a	n/a
4	TBP	chr7:138143356-138146080	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:138144188-138144890	U87	brain:	n/a	n/a
6	RFX5	chr7:138143135-138147159	SK-N-SH	brain:	n/a	chr7:138144908-138144923
7	POLR2A	chr7:138144127-138146906	HepG2	liver:	n/a	n/a
8	MXI1	chr7:138144074-138147130	SK-N-SH	brain:	n/a	n/a
9	BRCA1	chr7:138144158-138144944	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr7:138143330-138144695	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr7:138143261-138144814	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:138144206-138144880	PFSK-1	brain:	n/a	n/a
13	TAF7	chr7:138143332-138146199	H1-hESC	embryonic stem cell:	n/a	n/a
14	SPI1	chr7:138144188-138144937	HL-60	blood:	n/a	chr7:138144795-138144808
15	CBX3	chr7:138144152-138146573	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:
2	chr7:138143601..138146619-chr7:138166848..138169714,4	K562	blood:
3	chr7:138129342..138131930-chr7:138142283..138144640,2	K562	blood:

No data

Variant related genes	Relation type
TRIM24	TF binding region
ENSG00000214815	Chromatin interaction
ENSG00000239123	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10258706	0.81[ASN][1000 genomes]
rs10274356	0.85[EUR][1000 genomes]
rs2029814	0.85[ASN][1000 genomes]
rs2029815	0.85[ASN][1000 genomes]
rs2353349	0.82[ASN][1000 genomes]
rs2353350	0.83[ASN][1000 genomes]
rs2353351	0.83[ASN][1000 genomes]
rs28849519	0.82[ASN][1000 genomes]
rs34341136	0.82[ASN][1000 genomes]
rs3807157	0.81[ASN][1000 genomes]
rs56046212	0.82[ASN][1000 genomes]
rs56321501	0.82[ASN][1000 genomes]
rs56355389	0.87[ASN][1000 genomes]
rs58995934	0.86[ASN][1000 genomes]
rs59168504	0.84[ASN][1000 genomes]
rs60656053	0.82[ASN][1000 genomes]
rs60673935	0.80[ASN][1000 genomes]
rs62487579	0.81[ASN][1000 genomes]
rs62487580	0.81[ASN][1000 genomes]
rs62487581	0.81[ASN][1000 genomes]
rs62487582	0.81[ASN][1000 genomes]
rs62487583	0.82[ASN][1000 genomes]
rs62487589	0.85[ASN][1000 genomes]
rs62487590	0.86[ASN][1000 genomes]
rs62487591	0.88[ASN][1000 genomes]
rs62487592	0.87[ASN][1000 genomes]
rs62487593	0.87[ASN][1000 genomes]
rs62487601	0.87[ASN][1000 genomes]
rs62487602	0.87[ASN][1000 genomes]
rs62487603	0.87[ASN][1000 genomes]
rs62487607	0.87[ASN][1000 genomes]
rs62487608	0.87[ASN][1000 genomes]
rs62487615	0.81[ASN][1000 genomes]
rs6953166	0.82[ASN][1000 genomes]
rs73164615	0.82[ASN][1000 genomes]
rs73164620	0.86[ASN][1000 genomes]
rs73164621	0.87[ASN][1000 genomes]
rs749546	0.82[ASN][1000 genomes]
rs888609	0.82[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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138141200-138144400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:138141200-138144400	Weak transcription	Right Atrium	heart
3	chr7:138141400-138145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:138142800-138144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:138143400-138144600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:138143400-138148400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:138143600-138146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:138143600-138146600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:138143600-138148000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:138143600-138148000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:138143600-138148000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:138143600-138149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:138143600-138150200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:138143800-138144600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr7:138143800-138146400	Active TSS	NH-A	brain
16	chr7:138143800-138147000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:138143800-138147400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:138143800-138148000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:138144000-138144400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:138144000-138144400	Enhancers	Hela-S3	cervix
21	chr7:138144000-138145600	Active TSS	Primary B cells from cord blood	blood
22	chr7:138144000-138146400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:138144000-138146400	Active TSS	Brain Anterior Caudate	brain
24	chr7:138144000-138146400	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr7:138144000-138147400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:138144200-138144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:138144200-138144400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:138144200-138144400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr7:138144200-138144400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:138144200-138144400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:138144200-138144400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:138144200-138144400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:138144200-138144400	Active TSS	Fetal Brain Male	brain
34	chr7:138144200-138144400	Flanking Active TSS	HepG2	liver
35	chr7:138144200-138144400	Enhancers	HSMM	muscle
36	chr7:138144200-138144400	Enhancers	Osteobl	bone
37	chr7:138144200-138144600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:138144200-138144600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr7:138144200-138144600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:138144200-138144600	Active TSS	Fetal Heart	heart
41	chr7:138144200-138144600	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr7:138144200-138144600	Flanking Active TSS	Dnd41	blood
43	chr7:138144200-138145400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:138144200-138146000	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr7:138144200-138146000	Active TSS	Primary B cells from peripheral blood	blood
46	chr7:138144200-138146000	Active TSS	Primary T cells fromperipheralblood	blood
47	chr7:138144200-138146000	Active TSS	Primary hematopoietic stem cells	blood
48	chr7:138144200-138146000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr7:138144200-138146000	Active TSS	Adipose Nuclei	Adipose
50	chr7:138144200-138146000	Active TSS	Brain Angular Gyrus	brain

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