Variant report

Variant	rs35135081
Chromosome Location	chr8:125539421-125539422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125539305-125540294	GM12892	blood:	n/a	n/a
2	POLR2A	chr8:125537849-125541960	K562	blood:	n/a	n/a
3	NFIC	chr8:125538766-125540544	GM12878	blood:	n/a	n/a
4	TBP	chr8:125538841-125539971	GM12878	blood:	n/a	n/a
5	NR2F2	chr8:125538056-125539697	MCF-7	breast:	n/a	n/a
6	RELA	chr8:125538852-125540448	GM19099	blood:	n/a	n/a
7	BHLHE40	chr8:125539410-125539954	GM12878	blood:	n/a	n/a
8	FOXM1	chr8:125539205-125540327	GM12878	blood:	n/a	n/a
9	NR2F2	chr8:125539387-125539764	K562	blood:	n/a	n/a
10	POU2F2	chr8:125539407-125539841	GM12891	blood:	n/a	n/a
11	MYC	chr8:125539110-125539817	K562	blood:	n/a	n/a
12	USF1	chr8:125539371-125539847	K562	blood:	n/a	n/a
13	POU2F2	chr8:125539260-125539907	GM12891	blood:	n/a	n/a
14	SP1	chr8:125539393-125539947	GM12878	blood:	n/a	n/a
15	NFATC1	chr8:125538709-125540511	GM12878	blood:	n/a	n/a
16	NRF1	chr8:125539405-125539703	GM12878	blood:	n/a	n/a
17	TEAD4	chr8:125539103-125539850	K562	blood:	n/a	n/a
18	POLR2A	chr8:125539342-125539459	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:125539392-125539430	K562	blood:	n/a	n/a
20	ELF1	chr8:125539418-125539862	GM12878	blood:	n/a	n/a
21	CEBPB	chr8:125538782-125540057	GM12878	blood:	n/a	n/a
22	CHD1	chr8:125539177-125540199	GM12878	blood:	n/a	n/a
23	NFATC1	chr8:125539290-125539972	GM12878	blood:	n/a	n/a
24	PML	chr8:125538741-125540525	GM12878	blood:	n/a	n/a
25	ELF1	chr8:125539418-125539881	K562	blood:	n/a	n/a
26	TEAD4	chr8:125539265-125540105	K562	blood:	n/a	n/a
27	POLR2A	chr8:125539272-125540023	GM12892	blood:	n/a	n/a
28	POLR2A	chr8:125539129-125539975	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:125539316-125540237	SK-N-MC	brain:	n/a	n/a
30	MTA3	chr8:125538745-125540528	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:125539383-125539886	GM12891	blood:	n/a	n/a
32	BCLAF1	chr8:125539358-125540140	GM12878	blood:	n/a	n/a
33	ARID3A	chr8:125539281-125539673	K562	blood:	n/a	n/a
34	STAT3	chr8:125539390-125539859	GM12878	blood:	n/a	n/a
35	RUNX3	chr8:125538644-125540478	GM12878	blood:	n/a	chr8:125538993-125539002 chr8:125538993-125539002
36	NFIC	chr8:125539308-125540400	GM12878	blood:	n/a	n/a
37	IRF4	chr8:125539385-125539868	GM12878	blood:	n/a	n/a
38	EP300	chr8:125539415-125539922	GM12878	blood:	n/a	n/a
39	CBX3	chr8:125538786-125539986	K562	blood:	n/a	n/a
40	POLR2A	chr8:125538201-125540393	GM12878	blood:	n/a	n/a
41	BCL11A	chr8:125539420-125539862	GM12878	blood:	n/a	n/a
42	MTA3	chr8:125538872-125539989	GM12878	blood:	n/a	n/a
43	GATA3	chr8:125538080-125539486	MCF-7	breast:	n/a	chr8:125538117-125538127 chr8:125538120-125538127 chr8:125538116-125538132 chr8:125538113-125538134 chr8:125538120-125538127 chr8:125538722-125538735 chr8:125538116-125538132 chr8:125538120-125538127
44	POLR2A	chr8:125539230-125540000	GM12892	blood:	n/a	n/a
45	ATF2	chr8:125539389-125540506	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:125539253-125540065	GM12878	blood:	n/a	n/a
47	TCF3	chr8:125539378-125539871	GM12878	blood:	n/a	n/a
48	USF2	chr8:125539138-125540319	GM12878	blood:	n/a	n/a
49	IRF4	chr8:125539389-125539884	GM12878	blood:	n/a	n/a
50	NR2F2	chr8:125539240-125539846	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125503534..125506808-chr8:125536853..125540308,3	MCF-7	breast:
2	chr8:125530085..125533438-chr8:125536669..125540173,3	K562	blood:
3	chr8:125458668..125465446-chr8:125536808..125541745,7	MCF-7	breast:
4	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
5	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
6	chr8:125485366..125490256-chr8:125538202..125541512,6	K562	blood:
7	chr8:125531889..125533447-chr8:125538900..125540598,2	K562	blood:
8	chr8:125504585..125506725-chr8:125538257..125539787,2	K562	blood:
9	chr8:125539308..125541314-chr8:125571807..125574800,2	MCF-7	breast:
10	chr8:125520162..125523153-chr8:125538508..125540533,2	MCF-7	breast:
11	chr8:125469347..125472316-chr8:125538366..125541222,2	K562	blood:
12	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
13	chr8:125538432..125540496-chr8:125866571..125869379,2	MCF-7	breast:

No data

Variant related genes	Relation type
TATDN1	TF binding region
ENSG00000170881	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1131024	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13250890	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13254054	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13263130	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13264071	0.98[EUR][1000 genomes]
rs13269215	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276295	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17298010	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34008273	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34115246	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34681068	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34684627	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34714561	0.84[EUR][1000 genomes]
rs35309726	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35419095	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4358788	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4457314	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4535724	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4540394	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7010902	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7813473	0.93[AMR][1000 genomes];0.94[EUR][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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 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	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125541200	Weak transcription	Gastric	stomach
3	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
4	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
7	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
9	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
10	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
16	chr8:125526600-125541000	Weak transcription	Colonic Mucosa	Colon
17	chr8:125527200-125539600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:125527400-125541000	Weak transcription	Fetal Heart	heart
19	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
20	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:125529200-125539600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:125529200-125543600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:125529200-125544000	Weak transcription	Fetal Stomach	stomach
24	chr8:125529400-125539600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:125529400-125543200	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:125531400-125541200	Weak transcription	Hela-S3	cervix
27	chr8:125531400-125542600	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:125531400-125547400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:125531400-125550000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:125531600-125543400	Weak transcription	Fetal Thymus	thymus
31	chr8:125531600-125543600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:125531600-125544200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:125531600-125548400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:125531600-125550000	Weak transcription	Fetal Lung	lung
35	chr8:125531800-125541200	Weak transcription	Left Ventricle	heart
36	chr8:125532000-125543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:125532000-125544000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:125532200-125540600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:125532200-125543400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:125532200-125543800	Weak transcription	Placenta	Placenta
41	chr8:125532200-125544000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:125534000-125542600	Weak transcription	Dnd41	blood
43	chr8:125535400-125540000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:125535600-125539600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:125535600-125543400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:125535800-125542400	Weak transcription	Primary T cells from cord blood	blood
47	chr8:125535800-125543000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:125535800-125550000	Weak transcription	Thymus	Thymus
49	chr8:125536200-125543200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:125536400-125541200	Weak transcription	Right Atrium	heart

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