Variant report

Variant	rs34681068
Chromosome Location	chr8:125551364-125551365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:555)
CpG islands
(count:183)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125550533-125551637	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr8:125551280-125551430	BJ	skin:	n/a	n/a
3	HEY1	chr8:125550945-125551724	K562	blood:	n/a	n/a
4	POLR2A	chr8:125551023-125551770	A549	lung:	n/a	n/a
5	POLR2A	chr8:125551036-125551652	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr8:125551360-125551510	HBMEC	blood vessel:	n/a	n/a
7	MXI1	chr8:125550520-125551790	GM12878	blood:	n/a	n/a
8	MXI1	chr8:125550232-125551951	IMR90	lung:	n/a	n/a
9	POLR2A	chr8:125550743-125551797	HUVEC	blood vessel:	n/a	n/a
10	ZMIZ1	chr8:125550653-125551693	K562	blood:	n/a	n/a
11	CHD2	chr8:125550660-125551844	GM12878	blood:	n/a	n/a
12	SIN3A	chr8:125550688-125551795	GM12878	blood:	n/a	n/a
13	CBX3	chr8:125550241-125551682	K562	blood:	n/a	n/a
14	GABPA	chr8:125551005-125551698	K562	blood:	n/a	chr8:125551316-125551323
15	CTCF	chr8:125551300-125551450	GM12875	blood:	n/a	n/a
16	POLR2A	chr8:125550990-125551562	SK-N-SH	brain:	n/a	n/a
17	MYC	chr8:125551120-125551545	HepG2	liver:	n/a	n/a
18	MYC	chr8:125550565-125551807	K562	blood:	n/a	chr8:125550935-125550942
19	POLR2A	chr8:125550509-125551801	GM19193	blood:	n/a	n/a
20	POLR2A	chr8:125550511-125551898	K562	blood:	n/a	n/a
21	MAX	chr8:125550533-125551823	SK-N-SH	brain:	n/a	chr8:125550935-125550942
22	YY1	chr8:125551307-125551497	K562	blood:	n/a	n/a
23	YY1	chr8:125551030-125551788	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFIC	chr8:125551109-125551677	HepG2	liver:	n/a	n/a
25	MYC	chr8:125551139-125551589	K562	blood:	n/a	n/a
26	CTCF	chr8:125551320-125551470	GM12873	blood:	n/a	n/a
27	ZNF263	chr8:125550592-125551803	HEK293-T-REx	kidney:	n/a	n/a
28	EP300	chr8:125551051-125551590	HepG2	liver:	n/a	n/a
29	MYC	chr8:125551261-125551505	MCF-7	breast:	n/a	n/a
30	FOS	chr8:125551217-125551467	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr8:125551174-125551469	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:125550374-125551791	K562	blood:	n/a	n/a
33	CTCF	chr8:125551280-125551550	HRPEpiC	eye:	n/a	n/a
34	ATF1	chr8:125551172-125551602	K562	blood:	n/a	n/a
35	TAF7	chr8:125551029-125551775	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr8:125550495-125551982	K562	blood:	n/a	n/a
37	REST	chr8:125550783-125551912	H1-neurons	neurons:	n/a	chr8:125551394-125551407
38	PAX5	chr8:125551014-125551590	GM12878	blood:	n/a	chr8:125551317-125551326
39	MYC	chr8:125550337-125551798	K562	blood:	n/a	chr8:125550399-125550408 chr8:125550935-125550942
40	CHD1	chr8:125550701-125551806	GM12878	blood:	n/a	n/a
41	BCL3	chr8:125551132-125551599	GM12878	blood:	n/a	chr8:125551317-125551326
42	MAX	chr8:125550676-125551701	SK-N-SH	brain:	n/a	chr8:125550935-125550942
43	CTCF	chr8:125551320-125551470	MCF-7	breast:	n/a	n/a
44	BCLAF1	chr8:125550596-125551711	GM12878	blood:	n/a	chr8:125551317-125551326
45	RUNX3	chr8:125550544-125551842	GM12878	blood:	n/a	n/a
46	YY1	chr8:125551114-125551851	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr8:125551300-125551450	GM12865	blood:	n/a	n/a
48	POLR2A	chr8:125550246-125551878	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:125550278-125551649	HepG2	liver:	n/a	n/a
50	BACH1	chr8:125551174-125551560	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125551332-125551382	HRPEpiC	eye:	n/a
2	chr8:125551332-125551382	Hepatocyte	liver:	n/a
3	chr8:125551349-125551399	GM06990	blood:	n/a
4	chr8:125551349-125551399	IMR90	lung:	fetal
5	chr8:125551349-125551399	T-47D	breast:	n/a
6	chr8:125551329-125551379	Caco-2	colon:	n/a
7	chr8:125551349-125551399	Hepatocyte	liver:	n/a
8	chr8:125551329-125551379	AG04449	skin:	fetal
9	chr8:125551329-125551379	T-47D	breast:	n/a
10	chr8:125551329-125551379	Jurkat	blood:	n/a
11	chr8:125551332-125551382	PrEC	prostate:	n/a
12	chr8:125551329-125551379	HNPCEpiC	eye:	n/a
13	chr8:125551329-125551379	ProgFib	skin:	n/a
14	chr8:125551349-125551399	U87	brain:	n/a
15	chr8:125551349-125551399	HEEpiC	esophagus:	n/a
16	chr8:125551329-125551379	H1-hESC	embryonic stem cell:	embryo
17	chr8:125551332-125551382	ovcar-3	ovarian:	n/a
18	chr8:125551329-125551379	HL-60	blood:	n/a
19	chr8:125551332-125551382	U87	brain:	n/a
20	chr8:125551329-125551379	K562	blood:	n/a
21	chr8:125551332-125551382	Caco-2	colon:	n/a
22	chr8:125551329-125551379	HepG2	liver:	n/a
23	chr8:125551329-125551379	AG04450	lung:	fetal
24	chr8:125551329-125551379	NH-A	brain:	n/a
25	chr8:125551349-125551399	SK-N-SH_RA	brain:	n/a
26	chr8:125551332-125551382	GM12892	blood:	n/a
27	chr8:125551332-125551382	HL-60	blood:	n/a
28	chr8:125551329-125551379	SKMC	muscle:	n/a
29	chr8:125551332-125551382	HAEpiC	amniotic membrane:	n/a
30	chr8:125551349-125551399	NH-A	brain:	n/a
31	chr8:125551332-125551382	HRCEpiC	kidney:	n/a
32	chr8:125551332-125551382	A549	lung:	n/a
33	chr8:125551332-125551382	SK-N-MC	brain:	n/a
34	chr8:125551349-125551399	AG09309	skin:	n/a
35	chr8:125551329-125551379	AG10803	skin:	n/a
36	chr8:125551332-125551382	BE2_C	brain:	n/a
37	chr8:125551332-125551382	MCF10A-Er-Src	breast:	n/a
38	chr8:125551329-125551379	AG09319	gingival:	n/a
39	chr8:125551329-125551379	GM12891	blood:	n/a
40	chr8:125551349-125551399	CMK	blood:	n/a
41	chr8:125551329-125551379	A549	lung:	n/a
42	chr8:125551349-125551399	SK-N-SH	brain:	n/a
43	chr8:125551349-125551399	MCF10A-Er-Src	breast:	n/a
44	chr8:125551329-125551379	HUVEC	blood vessel:	n/a
45	chr8:125551349-125551399	GM19239	blood:	n/a
46	chr8:125551332-125551382	BJ	skin:	n/a
47	chr8:125551349-125551399	SK-N-MC	brain:	n/a
48	chr8:125551329-125551379	IMR90	lung:	fetal
49	chr8:125551332-125551382	CMK	blood:	n/a
50	chr8:125551329-125551379	HEEpiC	esophagus:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
2	chr8:125551283..125554130-chr8:125630970..125633379,3	K562	blood:
3	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:
4	chr8:125549492..125551989-chr8:125824960..125829256,5	K562	blood:
5	chr8:125547520..125551844-chr8:126101419..126105683,3	MCF-7	breast:
6	chr8:125550147..125552790-chr8:125567789..125570449,2	MCF-7	breast:
7	chr17:58155611..58156606-chr8:125550967..125551483,2	MCF-7	breast:
8	chr8:125550901..125553938-chr8:125568241..125570881,3	K562	blood:
9	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
10	chr17:30813608..30814268-chr8:125550761..125551397,2	HCT-116	colon:
11	chr8:125548510..125551607-chr8:125929970..125932882,3	MCF-7	breast:
12	chr17:57913390..57915760-chr8:125550609..125552633,2	MCF-7	breast:
13	chr1:151170674..151172337-chr8:125550185..125552873,2	MCF-7	breast:
14	chr8:125549831..125551409-chr8:125739286..125741874,2	MCF-7	breast:
15	chr8:125551159..125553040-chr8:125983916..125986100,2	MCF-7	breast:
16	chr12:69978648..69980744-chr8:125549936..125551703,2	MCF-7	breast:
17	chr8:125461480..125466921-chr8:125547850..125552862,10	MCF-7	breast:
18	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
19	chr13:111367263..111368047-chr8:125551301..125551819,2	Hela-S3	cervix:
20	chr8:125498976..125500980-chr8:125550117..125552878,2	MCF-7	breast:
21	chr1:11159488..11160007-chr8:125550695..125551591,2	Hela-S3	cervix:
22	chr8:125461877..125466400-chr8:125548792..125551961,4	MCF-7	breast:
23	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:
24	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
25	chr8:125491802..125498170-chr8:125548148..125552034,10	MCF-7	breast:
26	chr8:125548946..125551897-chr8:126103590..126105323,2	MCF-7	breast:
27	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
28	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
29	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
30	chr5:102594162..102596152-chr8:125550887..125552879,2	MCF-7	breast:
31	chr8:125494945..125497543-chr8:125548660..125551608,2	K562	blood:
32	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
33	chr8:125548570..125552806-chr8:125825742..125828762,4	K562	blood:
34	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
35	chr7:131011896..131012458-chr8:125551284..125551961,2	Hela-S3	cervix:
36	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
37	chr8:125550912..125552543-chr8:125740144..125742250,2	MCF-7	breast:
38	chr8:125460680..125466261-chr8:125549985..125555147,10	K562	blood:
39	chr8:125549873..125552042-chr8:125579435..125582392,2	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
TATDN1	TF binding region
TATDN1	CpG island
NDUFB9	CpG island
ENSG00000250428	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000171824	Chromatin interaction
ENSG00000230337	Chromatin interaction
ENSG00000166226	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000236753	Chromatin interaction
ENSG00000253106	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000181751	Chromatin interaction
ENSG00000176749	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000180938	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1131024	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13250890	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13254054	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13263130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13264071	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13269215	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13276295	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17298010	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34008273	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34115246	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34684627	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34714561	0.94[EUR][1000 genomes]
rs35005670	0.82[AMR][1000 genomes]
rs35135081	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35309726	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35419095	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4358788	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4457314	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4535724	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4540394	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7010902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813473	0.96[AMR][1000 genomes];0.86[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34681068	TRMT12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125549600-125552400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:125549800-125552600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:125549800-125552600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:125550000-125552400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:125550000-125552600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:125550000-125552600	Active TSS	K562	blood
7	chr8:125550000-125553200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:125550200-125552200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:125550200-125552200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:125550200-125552200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125550200-125552200	Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:125550200-125552400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:125550200-125552400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:125550200-125552400	Active TSS	A549	lung
15	chr8:125550200-125552600	Active TSS	GM12878-XiMat	blood
16	chr8:125550200-125552800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:125550200-125552800	Active TSS	Right Atrium	heart
18	chr8:125550200-125553000	Active TSS	Psoas Muscle	Psoas
19	chr8:125550400-125551600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr8:125550400-125552000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:125550400-125552000	Active TSS	Lung	lung
22	chr8:125550400-125552200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:125550400-125552200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:125550400-125552200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:125550400-125552200	Active TSS	Aorta	Aorta
26	chr8:125550400-125552200	Active TSS	NHEK	skin
27	chr8:125550400-125552400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:125550400-125552400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:125550400-125552400	Active TSS	Left Ventricle	heart
30	chr8:125550400-125552400	Active TSS	Ovary	ovary
31	chr8:125550400-125552600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:125550400-125552800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:125550400-125553200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:125550600-125552000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:125550600-125552000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:125550600-125552000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:125550600-125552000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:125550600-125552000	Active TSS	Fetal Kidney	kidney
39	chr8:125550600-125552000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:125550600-125552000	Active TSS	Hela-S3	cervix
41	chr8:125550600-125552200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr8:125550600-125552200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:125550600-125552200	Active TSS	Brain Anterior Caudate	brain
44	chr8:125550600-125552200	Active TSS	Esophagus	oesophagus
45	chr8:125550600-125552200	Active TSS	Fetal Intestine Large	intestine
46	chr8:125550600-125552200	Active TSS	Pancreas	Pancrea
47	chr8:125550600-125552200	Active TSS	HMEC	breast
48	chr8:125550600-125552200	Active TSS	HSMM	muscle
49	chr8:125550600-125552400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:125550600-125552800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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