Variant report

Variant	rs7010902
Chromosome Location	chr8:125544475-125544476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125543982..125544883-chr8:125561771..125562465,2	MCF-7	breast:
2	chr8:125487117..125490518-chr8:125542261..125547751,5	K562	blood:
3	chr8:125543795..125545961-chr8:125826867..125829379,2	K562	blood:
4	chr8:125542543..125545366-chr8:125564681..125567341,2	MCF-7	breast:
5	chr8:125543458..125545211-chr8:125571140..125573606,2	MCF-7	breast:
6	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
7	chr8:125520244..125522508-chr8:125544474..125547251,3	MCF-7	breast:
8	chr8:125543036..125544991-chr8:125560441..125563068,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000245149	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1131024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];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[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.80[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13264071	0.87[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13269215	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13276295	0.86[CEU][hapmap];0.91[GIH][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17298010	1.00[ASW][hapmap];0.87[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17298759	1.00[LWK][hapmap]
rs17299208	1.00[LWK][hapmap]
rs17372901	1.00[LWK][hapmap]
rs34008273	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34115246	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34681068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.80[TSI][hapmap];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]
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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7010902	NSMCE2	cis	cerebellum	SCAN
rs7010902	ZNF572	cis	cerebellum	SCAN
rs7010902	TRMT12	cis	cerebellum	SCAN

Chromatin state (count:124 , 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	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
5	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
7	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
13	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
14	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:125531400-125547400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:125531400-125550000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:125531600-125548400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:125531600-125550000	Weak transcription	Fetal Lung	lung
19	chr8:125535800-125550000	Weak transcription	Thymus	Thymus
20	chr8:125537200-125550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:125537800-125550400	Weak transcription	Esophagus	oesophagus
22	chr8:125538200-125549600	Weak transcription	HUVEC	blood vessel
23	chr8:125538400-125545000	Weak transcription	Ovary	ovary
24	chr8:125538400-125549800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:125539000-125549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:125539400-125545000	Weak transcription	NHLF	lung
27	chr8:125539400-125549800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:125539600-125549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:125539800-125549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:125539800-125550200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:125540000-125545000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:125540000-125550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:125540200-125549400	Weak transcription	HMEC	breast
34	chr8:125540200-125549600	Weak transcription	HSMMtube	muscle
35	chr8:125540200-125549600	Weak transcription	Osteobl	bone
36	chr8:125540200-125549800	Weak transcription	NHDF-Ad	bronchial
37	chr8:125540200-125550000	Weak transcription	NH-A	brain
38	chr8:125540200-125550200	Weak transcription	Fetal Kidney	kidney
39	chr8:125540200-125550600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:125541000-125545000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:125541200-125545800	Strong transcription	Hela-S3	cervix
42	chr8:125541200-125548800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:125541400-125546000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:125541400-125549000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:125541600-125545600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:125541600-125547400	Strong transcription	NHEK	skin
47	chr8:125541800-125548000	Weak transcription	HepG2	liver
48	chr8:125541800-125550400	Weak transcription	Lung	lung
49	chr8:125542000-125548600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:125542200-125545800	Strong transcription	HSMM	muscle

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