Variant report

Variant	rs34008273
Chromosome Location	chr8:125461817-125461818
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125461772-125461822	BE2_C	brain:	n/a
2	chr8:125461772-125461822	HepG2	liver:	n/a
3	chr8:125461772-125461822	LNCaP	prostate:	n/a
4	chr8:125461772-125461822	NHDF-neo	bronchial:	n/a
5	chr8:125461772-125461822	PANC-1	pancreas:	n/a
6	chr8:125461772-125461822	HCT-116	colon:	n/a
7	chr8:125461772-125461822	NHBE	bronchial:	n/a
8	chr8:125461772-125461822	AG04449	skin:	fetal
9	chr8:125461772-125461822	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:125461772-125461822	NB4	blood:	n/a
11	chr8:125461772-125461822	Hela-S3	cervix:	n/a
12	chr8:125461772-125461822	AG09309	skin:	n/a
13	chr8:125461772-125461822	HAEpiC	amniotic membrane:	n/a
14	chr8:125461772-125461822	ProgFib	skin:	n/a
15	chr8:125461772-125461822	AG04450	lung:	fetal
16	chr8:125461772-125461822	Hepatocyte	liver:	n/a
17	chr8:125461772-125461822	HCF	heart:	n/a
18	chr8:125461772-125461822	Jurkat	blood:	n/a
19	chr8:125461772-125461822	GM12892	blood:	n/a
20	chr8:125461772-125461822	HCPEpiC	choroid plexus:	n/a
21	chr8:125461772-125461822	HCM	heart:	n/a
22	chr8:125461772-125461822	HUVEC	blood vessel:	n/a
23	chr8:125461772-125461822	BJ	skin:	n/a
24	chr8:125461772-125461822	K562	blood:	n/a
25	chr8:125461772-125461822	AG10803	skin:	n/a
26	chr8:125461772-125461822	HEEpiC	esophagus:	n/a
27	chr8:125461772-125461822	HRCEpiC	kidney:	n/a
28	chr8:125461772-125461822	NT2-D1	testis:	n/a
29	chr8:125461772-125461822	AoSMC	blood vessel:	n/a
30	chr8:125461772-125461822	GM12891	blood:	n/a
31	chr8:125461772-125461822	MCF10A-Er-Src	breast:	n/a
32	chr8:125461772-125461822	SK-N-SH_RA	brain:	n/a
33	chr8:125461772-125461822	Caco-2	colon:	n/a
34	chr8:125461772-125461822	CMK	blood:	n/a
35	chr8:125461772-125461822	GM06990	blood:	n/a
36	chr8:125461772-125461822	SK-N-SH	brain:	n/a
37	chr8:125461772-125461822	PrEC	prostate:	n/a
38	chr8:125461772-125461822	HL-60	blood:	n/a
39	chr8:125461772-125461822	ovcar-3	ovarian:	n/a
40	chr8:125461772-125461822	SKMC	muscle:	n/a
41	chr8:125461772-125461822	U87	brain:	n/a
42	chr8:125461772-125461822	SK-N-MC	brain:	n/a
43	chr8:125461772-125461822	HEK293	kidney:	embryo
44	chr8:125461772-125461822	HNPCEpiC	eye:	n/a
45	chr8:125461772-125461822	ECC-1	luminal epithelium:	n/a
46	chr8:125461772-125461822	GM12878	blood:	n/a
47	chr8:125461772-125461822	RPTEC	kidney:	n/a
48	chr8:125461772-125461822	HMEC	breast:	n/a
49	chr8:125461772-125461822	A549	lung:	n/a
50	chr8:125461772-125461822	AG09319	gingival:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125460680..125466261-chr8:125549985..125555147,10	K562	blood:
2	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
3	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
4	chr8:125051633..125053177-chr8:125461476..125463177,2	MCF-7	breast:
5	chr8:125209307..125211794-chr8:125460227..125463007,2	K562	blood:
6	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
7	chr14:24609134..24611550-chr8:125461758..125464369,2	MCF-7	breast:
8	chr8:125461480..125466921-chr8:125547850..125552862,10	MCF-7	breast:
9	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
10	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:

No data

Variant related genes	Relation type
TRMT12	CpG island
ENSG00000254249	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000181171	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1131024	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13250890	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13254054	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13263130	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13264071	0.96[EUR][1000 genomes]
rs13269215	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13276295	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17298010	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34115246	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34681068	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34684627	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34714561	0.81[EUR][1000 genomes]
rs35005670	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35135081	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35309726	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35419095	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4358788	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4457314	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4535724	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4540394	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7010902	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7813473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	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
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125450800-125462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125456200-125462200	Weak transcription	Psoas Muscle	Psoas
3	chr8:125459400-125462000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:125459800-125462000	Weak transcription	Adipose Nuclei	Adipose
5	chr8:125459800-125462200	Weak transcription	NHLF	lung
6	chr8:125460000-125462000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:125460000-125462000	Weak transcription	Hela-S3	cervix
8	chr8:125460000-125462000	Weak transcription	Osteobl	bone
9	chr8:125460000-125462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:125460200-125462000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:125460200-125462000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:125460200-125462200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:125460200-125462400	Weak transcription	HSMM	muscle
14	chr8:125460400-125462000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:125460400-125462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:125460400-125462000	Weak transcription	NHDF-Ad	bronchial
17	chr8:125460400-125462200	Weak transcription	HSMMtube	muscle
18	chr8:125460400-125462400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:125460600-125462000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:125460600-125462000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr8:125460600-125462200	Weak transcription	Placenta	Placenta
22	chr8:125460600-125462400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:125460600-125462600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:125460600-125462600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:125460800-125462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:125461200-125462000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:125461200-125462200	Enhancers	HepG2	liver
28	chr8:125461400-125462000	Enhancers	K562	blood
29	chr8:125461400-125462200	Weak transcription	Colonic Mucosa	Colon
30	chr8:125461600-125462600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:125461600-125463000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:125461800-125462000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:125461800-125462000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:125461800-125462000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:125461800-125462000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:125461800-125462000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:125461800-125462000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:125461800-125462000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:125461800-125462000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:125461800-125462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:125461800-125462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:125461800-125462000	Enhancers	HMEC	breast
43	chr8:125461800-125462200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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