Variant report

Variant	rs4676824
Chromosome Location	chr3:120422136-120422137
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	chr3:120421115..120423893-chr3:120461818..120463428,2	K562	blood:

Variant related genes	Relation type
ENSG00000144840	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16831690	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17240621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378561	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424413	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4676823	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537922	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61795615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61796373	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61796376	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624496	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6785511	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612975	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836215	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs883537	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850589	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120397800-120424800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:120398200-120423200	Weak transcription	Psoas Muscle	Psoas
3	chr3:120398200-120427000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:120398200-120427800	Weak transcription	Placenta	Placenta
5	chr3:120398200-120430200	Weak transcription	NHEK	skin
6	chr3:120398200-120438000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:120398800-120442200	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:120401000-120424800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:120402400-120423600	Weak transcription	Lung	lung
10	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:120403600-120423800	Weak transcription	Spleen	Spleen
12	chr3:120404000-120423600	Weak transcription	Pancreas	Pancrea
13	chr3:120405600-120436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:120406400-120436600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:120408400-120429400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:120408600-120427400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:120411000-120422800	Weak transcription	Fetal Lung	lung
18	chr3:120411000-120436600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:120412600-120424400	Weak transcription	HMEC	breast
20	chr3:120412600-120425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:120412800-120422600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:120412800-120425200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:120412800-120425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:120412800-120426600	Weak transcription	Brain Angular Gyrus	brain
25	chr3:120412800-120435600	Weak transcription	NH-A	brain
26	chr3:120412800-120438000	Weak transcription	Fetal Intestine Small	intestine
27	chr3:120413800-120423400	Weak transcription	Colonic Mucosa	Colon
28	chr3:120414400-120425000	Weak transcription	Brain Germinal Matrix	brain
29	chr3:120415000-120438000	Weak transcription	HepG2	liver
30	chr3:120415400-120425800	Weak transcription	A549	lung
31	chr3:120416400-120423200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:120416400-120436800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:120416400-120437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:120416400-120437800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:120416600-120422800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:120416600-120423000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:120416600-120424200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:120416600-120424600	Weak transcription	Liver	Liver
40	chr3:120416600-120438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:120416800-120422800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:120416800-120460600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:120417000-120427600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:120417600-120456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:120418800-120426200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:120418800-120429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:120419000-120422200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:120419000-120450800	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:120419200-120424800	Weak transcription	Brain Substantia Nigra	brain
50	chr3:120420200-120428800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links