Variant report

Variant	rs7453831
Chromosome Location	chr6:74179395-74179396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:74000304-74012200..6:74160392-74184826	K562	blood:

Variant related genes	Relation type
ENSG00000234882	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10943096	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11754630	0.86[EUR][1000 genomes]
rs11755449	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11756187	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11756242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11756668	0.88[EUR][1000 genomes]
rs11757033	0.84[EUR][1000 genomes]
rs11760131	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes]
rs12524204	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12524548	0.81[EUR][1000 genomes]
rs12525146	0.86[ASN][1000 genomes]
rs12526457	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12526483	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12526844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12527011	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12527340	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12529857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757139	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2036039	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073465	0.80[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3806981	0.89[EUR][1000 genomes]
rs4340968	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4440422	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4706541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4708055	0.81[CHB][hapmap]
rs4708056	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4708059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58462079	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62438380	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438381	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62438385	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62438400	0.87[EUR][1000 genomes]
rs62438403	0.86[EUR][1000 genomes]
rs62438405	0.83[EUR][1000 genomes]
rs62438406	0.82[EUR][1000 genomes]
rs62440626	0.82[EUR][1000 genomes]
rs6453676	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6920811	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6925541	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73452507	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7754947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7765670	0.91[EUR][1000 genomes]
rs9800809	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7453831	EEF1A1	cis	cerebellum	SCAN
rs7453831	EEF1A1	cis	parietal	SCAN
rs7453831	C6orf221	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:74172200-74189600	Weak transcription	Stomach Mucosa	stomach
3	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
4	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:74172400-74183000	Weak transcription	Aorta	Aorta
6	chr6:74172400-74183400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:74172800-74181400	Strong transcription	Fetal Stomach	stomach
8	chr6:74172800-74183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:74172800-74183000	Weak transcription	A549	lung
10	chr6:74172800-74183200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:74173000-74183000	Weak transcription	Psoas Muscle	Psoas
12	chr6:74173000-74183200	Weak transcription	Colonic Mucosa	Colon
13	chr6:74173200-74182800	Weak transcription	Right Ventricle	heart
14	chr6:74173400-74181400	Strong transcription	Fetal Intestine Small	intestine
15	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
16	chr6:74173600-74180000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:74173800-74181800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:74173800-74181800	Strong transcription	Fetal Muscle Leg	muscle
20	chr6:74173800-74182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:74174000-74187600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:74174000-74193600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:74174200-74182600	Weak transcription	Small Intestine	intestine
26	chr6:74174600-74179800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr6:74174800-74180000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:74174800-74180600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:74175000-74179400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:74175200-74179800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:74175600-74180800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:74175600-74181400	Strong transcription	Lung	lung
36	chr6:74175600-74181600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:74175600-74188400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:74175600-74198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:74175600-74199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:74175600-74199000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:74175800-74179600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr6:74175800-74179600	Strong transcription	Colon Smooth Muscle	Colon
43	chr6:74175800-74179800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:74175800-74181400	Strong transcription	Thymus	Thymus
45	chr6:74175800-74184400	Strong transcription	Osteobl	bone
46	chr6:74175800-74188400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:74175800-74196800	Strong transcription	Liver	Liver
48	chr6:74175800-74197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:74175800-74198000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:74175800-74198800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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