Variant report

Variant	rs994430
Chromosome Location	chr2:97439001-97439002
allele	A/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97436350..97439145-chr2:97451579..97454445,2	MCF-7	breast:
2	chr2:97436844..97439460-chr2:97454736..97456658,2	K562	blood:
3	chr2:97428087..97429721-chr2:97438837..97440934,2	K562	blood:
4	chr2:97437914..97440608-chr2:97442411..97445406,2	MCF-7	breast:
5	chr2:97302631..97305345-chr2:97438795..97440703,2	MCF-7	breast:
6	chr2:97437410..97439937-chr2:97534605..97536290,2	MCF-7	breast:
7	chr2:97437670..97440264-chr2:97481677..97483519,3	MCF-7	breast:
8	chr2:97301089..97303275-chr2:97437934..97439702,2	MCF-7	breast:
9	chr2:97437615..97439395-chr2:97447867..97450601,2	MCF-7	breast:
10	chr2:97434784..97436849-chr2:97438455..97440703,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10189727	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs11682994	0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs1318597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2678385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4907251	0.88[JPT][hapmap]
rs6576983	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576984	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6727384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6730773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68026712	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72941253	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7582249	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7586317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs878919	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97430200-97439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97430200-97440800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:97430200-97442400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:97430200-97462800	Weak transcription	Aorta	Aorta
5	chr2:97430400-97440800	Weak transcription	A549	lung
6	chr2:97430400-97441000	Weak transcription	NHLF	lung
7	chr2:97430400-97442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:97430400-97452200	Weak transcription	Ovary	ovary
9	chr2:97430800-97439600	Genic enhancers	Fetal Intestine Small	intestine
10	chr2:97431400-97439600	Weak transcription	Thymus	Thymus
11	chr2:97431400-97451400	Weak transcription	Hela-S3	cervix
12	chr2:97433000-97439800	Weak transcription	K562	blood
13	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
14	chr2:97433200-97439800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:97434200-97439800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:97434600-97439200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:97434600-97439200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:97434600-97441000	Weak transcription	Osteobl	bone
19	chr2:97436000-97441200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:97436000-97444000	Weak transcription	HSMM	muscle
21	chr2:97436200-97439600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:97436200-97439600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:97436200-97439800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:97436200-97452600	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:97436400-97442400	Weak transcription	HSMMtube	muscle
26	chr2:97436400-97454000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:97436600-97439800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:97436600-97439800	Weak transcription	Right Atrium	heart
29	chr2:97436600-97439800	Weak transcription	Right Ventricle	heart
30	chr2:97436600-97441400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:97436600-97452400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:97436600-97452600	Weak transcription	HepG2	liver
33	chr2:97436800-97439800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:97436800-97439800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:97436800-97439800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:97436800-97440400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:97436800-97446800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:97437000-97443000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:97437400-97439200	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:97437400-97439600	Enhancers	NHEK	skin
41	chr2:97437600-97439600	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:97437600-97440000	Enhancers	Esophagus	oesophagus
43	chr2:97437800-97439200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:97437800-97439600	Genic enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:97437800-97440000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:97438000-97439600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:97438000-97439600	Weak transcription	HMEC	breast
48	chr2:97438000-97439800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:97438000-97439800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:97438000-97440400	Enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links