Variant report

Variant	rs6716095
Chromosome Location	chr2:99206974-99206975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99205159..99209024-chr2:99213253..99217043,5	K562	blood:
2	chr2:99205159..99207914-chr2:99213253..99215674,3	K562	blood:
3	chr2:99205589..99212150-chr2:99221841..99226592,8	K562	blood:
4	chr2:99204321..99207131-chr2:99222784..99224374,2	K562	blood:
5	chr2:99199933..99202443-chr2:99206484..99208014,2	K562	blood:
6	chr2:99200414..99202502-chr2:99204381..99208338,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10183473	1.00[AMR][1000 genomes]
rs11885661	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11892907	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[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	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:99149000-99209800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:99163000-99215000	Weak transcription	HMEC	breast
6	chr2:99164400-99210800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:99168400-99210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:99174600-99207800	Weak transcription	HUVEC	blood vessel
10	chr2:99176200-99210600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:99177400-99210800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:99177400-99213000	Weak transcription	NHDF-Ad	bronchial
13	chr2:99177400-99216200	Weak transcription	NH-A	brain
14	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
15	chr2:99181000-99210400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:99181600-99215600	Weak transcription	Small Intestine	intestine
17	chr2:99183200-99208800	Strong transcription	Adipose Nuclei	Adipose
18	chr2:99186400-99210200	Weak transcription	Fetal Brain Male	brain
19	chr2:99186800-99215600	Weak transcription	NHEK	skin
20	chr2:99187200-99216600	Weak transcription	NHLF	lung
21	chr2:99194000-99216200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:99194200-99209200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:99194200-99220800	Weak transcription	Fetal Heart	heart
24	chr2:99195200-99214800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:99195400-99216200	Weak transcription	Osteobl	bone
26	chr2:99197200-99207600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:99197800-99209400	Strong transcription	GM12878-XiMat	blood
28	chr2:99199400-99210400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:99199400-99214800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:99199600-99207600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:99199600-99210600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:99199600-99214800	Weak transcription	K562	blood
33	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:99200000-99209800	Weak transcription	A549	lung
35	chr2:99200400-99208000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:99200400-99210400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:99200400-99214000	Weak transcription	Brain Angular Gyrus	brain
38	chr2:99200400-99216400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:99200600-99208600	Genic enhancers	Fetal Thymus	thymus
40	chr2:99200600-99210600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:99200600-99214000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:99200800-99210200	Weak transcription	Fetal Lung	lung
43	chr2:99200800-99213000	Weak transcription	HSMM	muscle
44	chr2:99200800-99213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:99200800-99213800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:99200800-99214200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:99200800-99216200	Weak transcription	Fetal Kidney	kidney
48	chr2:99201000-99207000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:99201000-99207600	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:99201000-99207800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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