Variant report

Variant	rs4457314
Chromosome Location	chr8:125504124-125504125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125502813..125505069-chr8:126010295..126012992,2	MCF-7	breast:
2	chr8:125501973..125504585-chr8:125508196..125511474,3	MCF-7	breast:
3	chr8:125503920..125505666-chr8:125508333..125511021,2	K562	blood:
4	chr8:125476504..125477354-chr8:125503331..125504125,2	MCF-7	breast:
5	chr8:125503534..125506808-chr8:125536853..125540308,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253513	Chromatin interaction
ENSG00000104549	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];0.87[CEU][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.85[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[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13264071	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs13269215	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13276295	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17298010	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17298759	1.00[LWK][hapmap]
rs17299208	1.00[LWK][hapmap];0.80[MKK][hapmap]
rs17372901	1.00[LWK][hapmap]
rs34008273	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34115246	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34681068	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34684627	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34714561	0.81[EUR][1000 genomes]
rs35135081	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[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]
rs4535724	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4540394	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6470248	0.80[MKK][hapmap]
rs7010902	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]
rs7813473	0.89[AFR][1000 genomes];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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4457314	NSMCE2	cis	cerebellum	SCAN
rs4457314	ZNF572	cis	cerebellum	SCAN
rs4457314	ZHX2	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125515800	Weak transcription	Lung	lung
2	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:125489000-125541200	Weak transcription	Gastric	stomach
7	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
8	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:125496000-125512600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
13	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:125497600-125505200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:125497800-125506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:125498000-125504200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr8:125498000-125504400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:125498000-125504600	Strong transcription	Primary T cells from cord blood	blood
19	chr8:125498000-125504600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr8:125498000-125505000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:125498000-125505800	Strong transcription	Dnd41	blood
22	chr8:125498000-125506200	Strong transcription	Fetal Intestine Large	intestine
23	chr8:125498000-125506600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:125498000-125506800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:125498200-125504200	Strong transcription	Osteobl	bone
26	chr8:125498200-125504600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:125498200-125504800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:125498200-125506000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:125498200-125506000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:125498200-125507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:125498200-125508000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:125498400-125506200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:125499000-125513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
35	chr8:125499200-125515800	Weak transcription	Right Ventricle	heart
36	chr8:125499800-125506000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:125499800-125512600	Weak transcription	Aorta	Aorta
38	chr8:125499800-125515800	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:125500000-125512600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
41	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
43	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
44	chr8:125500200-125512600	Weak transcription	NHDF-Ad	bronchial
45	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:125500400-125504200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:125500400-125512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:125500600-125513800	Weak transcription	Fetal Kidney	kidney
50	chr8:125501000-125505600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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