Variant report

Variant	rs10110708
Chromosome Location	chr8:8287056-8287057
allele	C/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	HNF4A	chr8:8286745-8287218	HepG2	liver:	n/a	n/a
2	CREB1	chr8:8286512-8287343	HepG2	liver:	n/a	n/a
3	USF1	chr8:8286788-8287291	A549	lung:	n/a	n/a
4	SIN3AK20	chr8:8286781-8287266	A549	lung:	n/a	n/a
5	FOSL2	chr8:8286696-8287342	HepG2	liver:	n/a	chr8:8287087-8287095 chr8:8287085-8287097
6	TCF12	chr8:8286434-8287351	SK-N-SH	brain:	n/a	chr8:8287023-8287032
7	JUND	chr8:8286816-8287207	HepG2	liver:	n/a	chr8:8287087-8287095 chr8:8287085-8287097 chr8:8287085-8287096
8	HDAC2	chr8:8286766-8287300	HepG2	liver:	n/a	n/a
9	MYBL2	chr8:8286603-8287452	HepG2	liver:	n/a	n/a
10	HNF4A	chr8:8286698-8287272	HepG2	liver:	n/a	n/a
11	RXRA	chr8:8286685-8287331	HepG2	liver:	n/a	chr8:8286808-8286817 chr8:8286968-8286982
12	SP1	chr8:8286559-8287343	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:8286999-8287221	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:8286803-8287335	HepG2	liver:	n/a	n/a
15	TEAD4	chr8:8286812-8287249	HepG2	liver:	n/a	n/a
16	FOSL2	chr8:8286662-8287384	HepG2	liver:	n/a	chr8:8287087-8287095 chr8:8287085-8287097
17	JUND	chr8:8286745-8287301	HepG2	liver:	n/a	chr8:8287087-8287095 chr8:8287085-8287097 chr8:8287085-8287096
18	CEBPB	chr8:8286926-8287259	A549	lung:	n/a	n/a
19	FOXA2	chr8:8286725-8287299	HepG2	liver:	n/a	chr8:8286946-8286958
20	TEAD4	chr8:8286699-8287325	A549	lung:	n/a	n/a
21	FOXA1	chr8:8286603-8287363	HepG2	liver:	n/a	chr8:8286946-8286958
22	ETS1	chr8:8286710-8287193	A549	lung:	n/a	n/a
23	TCF7L2	chr8:8286909-8287206	Hela-S3	cervix:	n/a	chr8:8286993-8287009 chr8:8287053-8287067 chr8:8287056-8287065 chr8:8286994-8287008 chr8:8286993-8287009
24	ZNF217	chr8:8286914-8287235	MCF-7	breast:	n/a	n/a
25	REST	chr8:8286810-8287205	A549	lung:	n/a	n/a
26	SP1	chr8:8286469-8287462	A549	lung:	n/a	n/a
27	SIN3AK20	chr8:8286760-8287276	A549	lung:	n/a	n/a
28	FOXA1	chr8:8286748-8287382	HepG2	liver:	n/a	chr8:8286946-8286958
29	EP300	chr8:8286653-8287334	HepG2	liver:	n/a	n/a
30	FOXA1	chr8:8286707-8287460	HepG2	liver:	n/a	chr8:8286946-8286958
31	REST	chr8:8286771-8287243	HepG2	liver:	n/a	n/a
32	RFX5	chr8:8286622-8287232	HepG2	liver:	n/a	n/a
33	NR2F2	chr8:8286569-8287495	HepG2	liver:	n/a	n/a
34	MAX	chr8:8286627-8287341	A549	lung:	n/a	n/a
35	GATA3	chr8:8286456-8287492	A549	lung:	n/a	chr8:8287088-8287097
36	MAX	chr8:8286742-8287393	HepG2	liver:	n/a	n/a
37	MAFK	chr8:8286606-8287204	HepG2	liver:	n/a	n/a
38	FOSL2	chr8:8286688-8287287	A549	lung:	n/a	chr8:8287087-8287095 chr8:8287085-8287097
39	GATA3	chr8:8286417-8287313	SK-N-SH	brain:	n/a	chr8:8286437-8286453 chr8:8287088-8287097
40	ZBTB33	chr8:8286821-8287274	A549	lung:	n/a	n/a
41	EP300	chr8:8286441-8287496	A549	lung:	n/a	n/a
42	RXRA	chr8:8286728-8287272	SK-N-SH	brain:	n/a	chr8:8286808-8286817 chr8:8286968-8286982
43	EP300	chr8:8286602-8287311	HepG2	liver:	n/a	n/a
44	TBP	chr8:8286645-8287325	HepG2	liver:	n/a	n/a
45	RAD21	chr8:8286775-8287343	A549	lung:	n/a	n/a
46	CEBPD	chr8:8286992-8287221	HepG2	liver:	n/a	n/a
47	NFIC	chr8:8286661-8287365	HepG2	liver:	n/a	n/a
48	MBD4	chr8:8286575-8287379	HepG2	liver:	n/a	n/a
49	TCF12	chr8:8286696-8287291	A549	lung:	n/a	chr8:8287023-8287032
50	ATF3	chr8:8286695-8287347	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:
2	chr8:8286859..8289510-chr8:8290140..8291896,2	MCF-7	breast:
3	chr8:8239788..8242444-chr8:8287010..8288532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253505	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10099571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101904	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503376	1.00[ASN][1000 genomes]
rs11989467	1.00[ASN][1000 genomes]
rs11991607	1.00[ASN][1000 genomes]
rs13248908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13251924	1.00[ASN][1000 genomes]
rs13253870	1.00[ASN][1000 genomes]
rs13259482	1.00[ASN][1000 genomes]
rs13262476	1.00[ASN][1000 genomes]
rs13280653	1.00[CHB][hapmap]
rs17594093	1.00[CHB][hapmap]
rs17604776	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17607697	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617027	1.00[ASN][1000 genomes]
rs17669632	1.00[ASN][1000 genomes]
rs17670522	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2976956	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2976958	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34353415	1.00[ASN][1000 genomes]
rs34419947	1.00[ASN][1000 genomes]
rs35144760	1.00[ASN][1000 genomes]
rs35190619	1.00[ASN][1000 genomes]
rs4840966	1.00[ASN][1000 genomes]
rs4840969	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840970	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840971	1.00[ASN][1000 genomes]
rs4840975	1.00[ASN][1000 genomes]
rs55817265	1.00[ASN][1000 genomes]
rs60027965	1.00[ASN][1000 genomes]
rs6601693	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs66469655	1.00[ASN][1000 genomes]
rs6991227	1.00[ASN][1000 genomes]
rs6998115	1.00[ASN][1000 genomes]
rs7007943	1.00[ASN][1000 genomes]
rs7014601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71513198	1.00[ASN][1000 genomes]
rs73184334	1.00[ASN][1000 genomes]
rs73523411	1.00[ASN][1000 genomes]
rs882687	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
14	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv465449	chr8:8262897-8362710	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv610158	chr8:8262897-8362710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv6071	chr8:8269444-8304320	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1022784	chr8:8271462-8309864	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv539453	chr8:8271462-8309864	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv465451	chr8:8273043-8311298	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv610159	chr8:8273043-8311298	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv610160	chr8:8285302-8290350	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv8285	chr8:8285302-8291207	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv499734	chr8:8286301-8290831	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv16354	chr8:8286359-8290837	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv514471	chr8:8286471-8290316	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv610161	chr8:8286804-8290054	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv610162	chr8:8286804-8290294	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv610163	chr8:8286804-8290350	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv610164	chr8:8286804-8290619	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv442093	chr8:8287045-8291353	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv610165	chr8:8287056-8290350	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10110708	DKFZp761P0423	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8273200-8289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:8284000-8287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:8284600-8287400	Enhancers	Stomach Mucosa	stomach
4	chr8:8285000-8287200	Enhancers	Fetal Lung	lung
5	chr8:8285800-8287200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:8286000-8287400	Enhancers	NH-A	brain
7	chr8:8286000-8287600	Enhancers	HepG2	liver
8	chr8:8286200-8287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:8286200-8287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:8286200-8287400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:8286200-8287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:8286200-8287400	Enhancers	HSMM	muscle
13	chr8:8286200-8287400	Enhancers	Osteobl	bone
14	chr8:8286200-8292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:8286400-8287400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:8286400-8287400	Enhancers	HSMMtube	muscle
17	chr8:8286400-8287400	Enhancers	NHDF-Ad	bronchial
18	chr8:8286600-8287400	Enhancers	NHLF	lung
19	chr8:8286800-8287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:8286800-8287400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:8287000-8287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:8287000-8287200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:8287000-8287200	Enhancers	Fetal Intestine Small	intestine
24	chr8:8287000-8287400	Enhancers	A549	lung
25	chr8:8287000-8288000	Enhancers	Placenta	Placenta

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