Variant report

Variant	rs74085078
Chromosome Location	chr12:44919685-44919686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:44919635-44920082	MCF-7	breast:	n/a	n/a
2	FOXA1	chr12:44919650-44919991	ECC-1	luminal epithelium:	n/a	n/a
3	FOXA1	chr12:44919656-44919934	ECC-1	luminal epithelium:	n/a	n/a
4	FOXA1	chr12:44919645-44919940	HepG2	liver:	n/a	n/a
5	FOXA1	chr12:44919665-44919921	HepG2	liver:	n/a	n/a
6	TEAD4	chr12:44919670-44919890	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXA2	chr12:44919672-44920038	A549	lung:	n/a	n/a
8	FOXA1	chr12:44919655-44919943	T-47D	breast:	n/a	n/a
9	GATA3	chr12:44919523-44920082	MCF-7	breast:	n/a	n/a
10	FOXA1	chr12:44919661-44919944	HepG2	liver:	n/a	n/a
11	TEAD4	chr12:44919636-44920024	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr12:44919521-44920019	T-47D	breast:	n/a	n/a
13	FOXA2	chr12:44919685-44919895	HepG2	liver:	n/a	n/a
14	NR2F2	chr12:44919617-44920082	HepG2	liver:	n/a	n/a
15	TEAD4	chr12:44919636-44919999	MCF-7	breast:	n/a	n/a
16	GATA3	chr12:44919546-44919903	T-47D	breast:	n/a	n/a
17	TEAD4	chr12:44919548-44920067	ECC-1	luminal epithelium:	n/a	n/a
18	HDAC2	chr12:44919650-44919960	HepG2	liver:	n/a	n/a
19	NR2F2	chr12:44919546-44920164	MCF-7	breast:	n/a	n/a
20	GATA3	chr12:44919474-44920299	MCF-7	breast:	n/a	n/a
21	FOXA2	chr12:44919684-44919886	A549	lung:	n/a	n/a
22	EP300	chr12:44919632-44919933	HepG2	liver:	n/a	n/a
23	TEAD4	chr12:44919550-44920075	HepG2	liver:	n/a	n/a
24	HNF4G	chr12:44919685-44919912	HepG2	liver:	n/a	n/a
25	FOXA1	chr12:44919573-44920072	T-47D	breast:	n/a	n/a
26	TEAD4	chr12:44919595-44919863	HepG2	liver:	n/a	n/a
27	NR2F2	chr12:44919505-44920149	MCF-7	breast:	n/a	n/a
28	TEAD4	chr12:44919536-44920037	ECC-1	luminal epithelium:	n/a	n/a
29	FOXA1	chr12:44919636-44919933	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44915427..44917859-chr12:44918192..44921141,3	K562	blood:

No data

Variant related genes	Relation type
NELL2	TF binding region
ENSG00000184613	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10880632	0.87[ASN][1000 genomes]
rs11182486	0.87[ASN][1000 genomes]
rs11182490	0.87[ASN][1000 genomes]
rs11182493	0.87[ASN][1000 genomes]
rs11182495	0.87[ASN][1000 genomes]
rs11182496	0.87[ASN][1000 genomes]
rs11182497	0.81[ASN][1000 genomes]
rs11182501	0.81[ASN][1000 genomes]
rs11182517	1.00[ASN][1000 genomes]
rs11611818	0.81[ASN][1000 genomes]
rs11612521	0.87[ASN][1000 genomes]
rs12297907	0.87[ASN][1000 genomes]
rs12301564	0.87[ASN][1000 genomes]
rs12308701	0.81[ASN][1000 genomes]
rs12308760	0.87[ASN][1000 genomes]
rs12310262	0.81[ASN][1000 genomes]
rs12311228	0.87[ASN][1000 genomes]
rs12317228	0.87[ASN][1000 genomes]
rs12318553	0.87[ASN][1000 genomes]
rs12319211	0.87[ASN][1000 genomes]
rs12319354	0.87[ASN][1000 genomes]
rs1353143	0.81[ASN][1000 genomes]
rs1353145	0.87[ASN][1000 genomes]
rs1353146	0.87[ASN][1000 genomes]
rs1353147	0.87[ASN][1000 genomes]
rs1493755	0.81[ASN][1000 genomes]
rs17094634	0.87[ASN][1000 genomes]
rs17094695	1.00[ASN][1000 genomes]
rs17094740	0.91[EUR][1000 genomes]
rs17121322	0.87[ASN][1000 genomes]
rs1873978	0.87[ASN][1000 genomes]
rs1873980	0.87[ASN][1000 genomes]
rs1873981	0.81[ASN][1000 genomes]
rs55781129	1.00[ASN][1000 genomes]
rs55962853	1.00[ASN][1000 genomes]
rs56020032	1.00[ASN][1000 genomes]
rs56115011	0.87[ASN][1000 genomes]
rs56318423	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59255697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60837979	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68107418	0.81[ASN][1000 genomes]
rs7132743	0.81[ASN][1000 genomes]
rs7134756	0.87[ASN][1000 genomes]
rs7299010	1.00[ASN][1000 genomes]
rs7302676	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094334	0.87[ASN][1000 genomes]
rs7309948	0.94[ASN][1000 genomes]
rs74085040	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74085067	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085073	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085081	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74085082	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs751921	0.87[ASN][1000 genomes]
rs7953681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957832	1.00[ASN][1000 genomes]
rs7958300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958770	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960681	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962332	0.87[ASN][1000 genomes]
rs7964751	0.87[ASN][1000 genomes]
rs7965110	0.87[ASN][1000 genomes]
rs7965383	0.87[ASN][1000 genomes]
rs7969400	0.87[ASN][1000 genomes]
rs7969428	0.87[ASN][1000 genomes]
rs7969466	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7969614	0.81[ASN][1000 genomes]
rs7970601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971520	1.00[ASN][1000 genomes]
rs7972882	0.87[ASN][1000 genomes]
rs7978776	0.87[ASN][1000 genomes]
rs7979642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44901800-44926800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:44902600-44926200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:44904600-44936600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:44904800-44925600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:44909200-44939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:44912200-44932400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44912600-44925200	Weak transcription	Fetal Brain Male	brain
8	chr12:44913200-44922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:44914000-44921600	Weak transcription	Fetal Brain Female	brain
10	chr12:44915800-44924200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:44916000-44924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:44916000-44924400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:44916000-44930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:44917400-44920400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:44918600-44972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:44918800-44921200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:44919000-44919800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr12:44919200-44920200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:44919200-44920200	Enhancers	Fetal Heart	heart
20	chr12:44919400-44920200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:44919400-44920200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:44919400-44920400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:44919400-44920400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:44919600-44919800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:44919600-44920000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:44919600-44920000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:44919600-44920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:44919600-44920400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:44919600-44920400	Enhancers	HepG2	liver

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