Variant report

Variant	rs6666831
Chromosome Location	chr1:93222797-93222798
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93215411..93218590-chr1:93221864..93223911,3	MCF-7	breast:
2	chr1:93214790..93219134-chr1:93222182..93225825,4	K562	blood:
3	chr1:93220670..93222907-chr1:93296640..93299176,3	MCF-7	breast:
4	chr1:93222521..93225056-chr1:93227048..93229710,2	K562	blood:

Variant related genes	Relation type
ENSG00000234202	Chromatin interaction
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1003116	1.00[CEU][hapmap];0.97[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1034218	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs10735781	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs10747446	0.91[CEU][hapmap];0.96[YRI][hapmap];0.89[EUR][1000 genomes]
rs10782936	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10782937	0.87[EUR][1000 genomes]
rs10782941	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10782945	0.84[CEU][hapmap]
rs10782946	0.84[CEU][hapmap]
rs10874710	0.81[EUR][1000 genomes]
rs10874711	0.81[EUR][1000 genomes]
rs10874724	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10874725	0.83[EUR][1000 genomes]
rs10874726	0.87[EUR][1000 genomes]
rs10874727	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs10874732	0.87[EUR][1000 genomes]
rs10874733	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10874736	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10874738	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874744	0.84[CEU][hapmap]
rs10874746	0.84[CEU][hapmap]
rs10874747	0.85[CEU][hapmap]
rs11164785	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11164789	0.86[EUR][1000 genomes]
rs11164791	0.96[CEU][hapmap];0.97[YRI][hapmap];0.87[EUR][1000 genomes]
rs11164796	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11164807	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11164810	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021539	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12025792	0.92[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs12123935	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12401423	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1337107	0.91[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1360366	0.84[CEU][hapmap]
rs1535372	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2065915	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2107518	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2107519	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2391197	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3903212	0.81[EUR][1000 genomes]
rs3936944	0.86[EUR][1000 genomes]
rs3936945	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs4294422	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs4294424	0.87[CEU][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4480368	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847267	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4847301	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847306	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847311	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4847336	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4847384	0.84[CEU][hapmap]
rs4847432	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4970707	0.81[EUR][1000 genomes]
rs6603989	0.82[EUR][1000 genomes]
rs6603992	0.83[CEU][hapmap]
rs6603997	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6604007	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6604008	0.87[EUR][1000 genomes]
rs6604013	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6604014	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6604031	0.85[CEU][hapmap]
rs6660136	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6660962	0.81[EUR][1000 genomes]
rs6675753	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6675757	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6680578	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6682801	0.91[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6695638	0.80[EUR][1000 genomes]
rs6697491	0.83[EUR][1000 genomes]
rs7417452	0.82[EUR][1000 genomes]
rs7418336	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs7513775	0.81[EUR][1000 genomes]
rs7514334	0.89[EUR][1000 genomes]
rs7521752	0.81[EUR][1000 genomes]
rs7530780	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs7535490	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7536563	0.84[CEU][hapmap]
rs7539761	0.83[EUR][1000 genomes]
rs7546197	0.86[EUR][1000 genomes]
rs7549341	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7551324	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs911523	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6666831	EVI5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
2	chr1:93193000-93223800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:93200200-93224000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:93209200-93227800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
6	chr1:93214000-93224200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:93214000-93224600	Weak transcription	Psoas Muscle	Psoas
8	chr1:93214000-93231200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:93214000-93248400	Weak transcription	Lung	lung
11	chr1:93218600-93223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:93219400-93224800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:93219600-93223000	Weak transcription	HSMM	muscle
14	chr1:93219600-93224600	Weak transcription	Osteobl	bone
15	chr1:93219800-93225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:93220000-93223800	Weak transcription	HMEC	breast
17	chr1:93220200-93227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:93220400-93224200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:93220400-93225000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:93220400-93225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:93220400-93232800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:93220800-93222800	Enhancers	Fetal Heart	heart
23	chr1:93220800-93223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:93221200-93222800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:93221200-93222800	Flanking Active TSS	Fetal Lung	lung
26	chr1:93221400-93223400	Enhancers	Right Ventricle	heart
27	chr1:93221400-93233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:93221600-93222800	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:93221600-93222800	Enhancers	Stomach Mucosa	stomach
30	chr1:93221600-93223400	Enhancers	Right Atrium	heart
31	chr1:93221600-93224800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:93221800-93223400	Weak transcription	A549	lung
33	chr1:93221800-93224600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:93222000-93222800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr1:93222000-93224400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
37	chr1:93222200-93222800	Enhancers	NHDF-Ad	bronchial
38	chr1:93222200-93223000	Enhancers	HepG2	liver
39	chr1:93222400-93222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:93222400-93222800	Enhancers	Brain Angular Gyrus	brain
41	chr1:93222400-93222800	Enhancers	Brain Anterior Caudate	brain
42	chr1:93222400-93222800	Enhancers	K562	blood
43	chr1:93222400-93224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:93222400-93224600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:93222400-93224800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:93222400-93230000	Weak transcription	NHEK	skin
47	chr1:93222400-93233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:93222400-93234000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:93222400-93240600	Weak transcription	Left Ventricle	heart
50	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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