Variant report

Variant	rs12034760
Chromosome Location	chr1:173022131-173022132
allele	A/G
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	NFIC	chr1:173021918-173022447	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr1:173021848-173022465	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr1:173021685-173022582	Hela-S3	cervix:	n/a	chr1:173022151-173022160 chr1:173021759-173021768
4	EP300	chr1:173021551-173022378	Hela-S3	cervix:	n/a	chr1:173022151-173022160
5	SMC3	chr1:173021693-173022369	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr1:173021822-173022456	SK-N-SH	brain:	n/a	chr1:173021976-173021984
7	RCOR1	chr1:173021839-173022663	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:173021979-173022241	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL1	chr1:173021591-173022533	HCT-116	colon:	n/a	chr1:173022152-173022161
10	RAD21	chr1:173021756-173022390	Hela-S3	cervix:	n/a	n/a
11	JUN	chr1:173021911-173022361	Hela-S3	cervix:	n/a	chr1:173022152-173022161
12	RFX5	chr1:173021847-173022312	Hela-S3	cervix:	n/a	n/a
13	JUND	chr1:173021814-173022433	SK-N-SH	brain:	n/a	chr1:173022152-173022161 chr1:173022150-173022161
14	POLR2A	chr1:173022001-173022384	SK-N-SH	brain:	n/a	n/a
15	EP300	chr1:173021865-173022537	SK-N-SH	brain:	n/a	chr1:173022151-173022160
16	STAT3	chr1:173021716-173022314	MCF10A-Er-Src	breast:	n/a	chr1:173022038-173022049
17	USF2	chr1:173022118-173022296	Hela-S3	cervix:	n/a	n/a
18	FOS	chr1:173021507-173022345	MCF10A-Er-Src	breast:	n/a	chr1:173022152-173022161
19	NFIC	chr1:173021937-173022421	SK-N-SH	brain:	n/a	n/a
20	JUND	chr1:173022078-173022306	H1-hESC	embryonic stem cell:	n/a	chr1:173022152-173022161 chr1:173022150-173022161
21	EP300	chr1:173022044-173022388	SK-N-SH_RA	brain:	n/a	chr1:173022151-173022160
22	STAT3	chr1:173021754-173022360	Hela-S3	cervix:	n/a	chr1:173022038-173022049
23	STAT3	chr1:173021732-173022276	MCF10A-Er-Src	breast:	n/a	chr1:173022038-173022049
24	MYC	chr1:173021661-173022383	MCF10A-Er-Src	breast:	n/a	chr1:173022151-173022160 chr1:173021759-173021768
25	FOS	chr1:173021704-173022346	MCF10A-Er-Src	breast:	n/a	chr1:173022152-173022161
26	E2F4	chr1:173022011-173022240	MCF10A-Er-Src	breast:	n/a	n/a
27	PBX3	chr1:173021870-173022500	SK-N-SH	brain:	n/a	n/a
28	FOS	chr1:173021753-173022354	MCF10A-Er-Src	breast:	n/a	chr1:173022152-173022161
29	TEAD4	chr1:173021939-173022264	HCT-116	colon:	n/a	n/a
30	NFIC	chr1:173021790-173022516	SK-N-SH	brain:	n/a	n/a
31	FOSL2	chr1:173021937-173022489	SK-N-SH	brain:	n/a	chr1:173022152-173022161
32	CEBPB	chr1:173021689-173022445	HCT-116	colon:	n/a	n/a
33	PBX3	chr1:173021994-173022431	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr1:173021626-173022453	SK-N-SH	brain:	n/a	chr1:173021845-173021855
35	CBX3	chr1:173021953-173022445	HCT-116	colon:	n/a	n/a
36	SP1	chr1:173021612-173022453	HCT-116	colon:	n/a	chr1:173021842-173021849
37	JUND	chr1:173021901-173022408	SK-N-SH	brain:	n/a	chr1:173022152-173022161 chr1:173022150-173022161
38	FOSL1	chr1:173021808-173022432	HCT-116	colon:	n/a	chr1:173022152-173022161
39	STAT3	chr1:173021980-173022234	MCF10A-Er-Src	breast:	n/a	chr1:173022038-173022049
40	STAT3	chr1:173021667-173022342	MCF10A-Er-Src	breast:	n/a	chr1:173022038-173022049
41	CHD2	chr1:173022034-173022363	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr1:173021825-173022529	SK-N-SH	brain:	n/a	chr1:173021976-173021984
43	JUND	chr1:173021810-173022497	HCT-116	colon:	n/a	chr1:173022152-173022161 chr1:173022150-173022161
44	JUND	chr1:173021735-173022597	Hela-S3	cervix:	n/a	chr1:173022152-173022161 chr1:173022150-173022161
45	GATA3	chr1:173021939-173022456	SK-N-SH	brain:	n/a	n/a
46	JUND	chr1:173022041-173022248	HepG2	liver:	n/a	chr1:173022152-173022161 chr1:173022150-173022161
47	EP300	chr1:173022015-173022308	SK-N-SH_RA	brain:	n/a	chr1:173022151-173022160
48	FOS	chr1:173021910-173022354	MCF10A-Er-Src	breast:	n/a	chr1:173022152-173022161
49	BRCA1	chr1:173021632-173022367	Hela-S3	cervix:	n/a	n/a
50	MYC	chr1:173021698-173022310	MCF10A-Er-Src	breast:	n/a	chr1:173022151-173022160 chr1:173021759-173021768

Variant related genes	Relation type
TNFSF18	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10798260	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10912526	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912527	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038100	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883927	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35391404	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6425201	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6673681	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537126	0.92[EUR][1000 genomes];1.00[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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173019600-173022200	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr1:173019600-173022600	Enhancers	HMEC	breast
3	chr1:173019800-173022600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:173019800-173022600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:173019800-173022600	Enhancers	Hela-S3	cervix
6	chr1:173020000-173022400	Enhancers	Liver	Liver
7	chr1:173020000-173022600	Enhancers	Stomach Mucosa	stomach
8	chr1:173020000-173023200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:173020200-173022200	Enhancers	Adipose Nuclei	Adipose
10	chr1:173020200-173022200	Enhancers	Fetal Lung	lung
11	chr1:173020600-173022400	Enhancers	HUVEC	blood vessel
12	chr1:173021000-173024000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:173021000-173024000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:173021400-173022200	Enhancers	Colon Smooth Muscle	Colon
15	chr1:173021400-173022400	Enhancers	A549	lung
16	chr1:173021800-173022200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:173021800-173022400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr1:173021800-173022400	Enhancers	NH-A	brain
19	chr1:173022000-173022200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:173022000-173022200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:173022000-173022200	Enhancers	HSMM	muscle
22	chr1:173022000-173022200	Enhancers	NHEK	skin
23	chr1:173022000-173022200	Enhancers	NHLF	lung
24	chr1:173022000-173022800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:173022000-173025600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:173022000-173027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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