Variant report

Variant	rs7667172
Chromosome Location	chr4:3164570-3164571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16843871	1.00[AMR][1000 genomes]
rs16843939	1.00[AMR][1000 genomes]
rs16843945	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3025837	0.90[AFR][1000 genomes]
rs3025838	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3025852	1.00[AMR][1000 genomes]
rs3025853	1.00[AMR][1000 genomes]
rs363140	0.89[AFR][1000 genomes]
rs56021098	1.00[AMR][1000 genomes]
rs56134819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56148664	1.00[AMR][1000 genomes]
rs57792935	1.00[AMR][1000 genomes]
rs57875258	1.00[AMR][1000 genomes]
rs60215756	0.90[AFR][1000 genomes]
rs6813198	0.90[AFR][1000 genomes]
rs6836289	1.00[AMR][1000 genomes]
rs6856403	0.90[AFR][1000 genomes]
rs73792195	0.83[AMR][1000 genomes]
rs73792352	0.94[AFR][1000 genomes]
rs7442144	0.83[AMR][1000 genomes]
rs7678336	0.94[AFR][1000 genomes]
rs7698150	0.97[AFR][1000 genomes];1.00[AMR][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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv461164	chr4:3149016-3215835	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv593439	chr4:3149016-3215835	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
3	chr4:3139600-3164800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr4:3145600-3164600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:3146400-3164800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:3146600-3164800	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:3147800-3164600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:3148000-3164800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:3148000-3165600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:3150000-3174400	Weak transcription	HMEC	breast
12	chr4:3153200-3164600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3156800-3174000	Weak transcription	A549	lung
14	chr4:3158400-3166600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr4:3158600-3173600	Weak transcription	Fetal Kidney	kidney
16	chr4:3159200-3169800	Weak transcription	Stomach Mucosa	stomach
17	chr4:3159400-3173600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:3161000-3169600	Weak transcription	K562	blood
19	chr4:3161200-3169600	Weak transcription	NHDF-Ad	bronchial
20	chr4:3161600-3166800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:3162000-3173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:3162200-3168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:3162400-3167800	Weak transcription	Gastric	stomach
24	chr4:3162400-3168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:3162400-3168000	Weak transcription	Brain Angular Gyrus	brain
26	chr4:3162400-3168000	Weak transcription	Pancreas	Pancrea
27	chr4:3162400-3168000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:3162400-3168200	Weak transcription	Esophagus	oesophagus
29	chr4:3162400-3168200	Weak transcription	Left Ventricle	heart
30	chr4:3162400-3168400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:3162400-3169800	Weak transcription	HSMMtube	muscle
32	chr4:3162400-3173600	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:3162400-3174000	Weak transcription	Brain Substantia Nigra	brain
34	chr4:3162400-3174000	Weak transcription	Ovary	ovary
35	chr4:3162400-3174200	Weak transcription	NHLF	lung
36	chr4:3162400-3174600	Weak transcription	HUVEC	blood vessel
37	chr4:3162400-3175000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:3162600-3164800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:3162600-3167800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:3162600-3167800	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:3162600-3167800	Weak transcription	Fetal Heart	heart
42	chr4:3162600-3168000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:3162600-3168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:3162600-3168000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:3162600-3168000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:3162600-3168000	Weak transcription	Dnd41	blood
47	chr4:3162600-3168200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:3162600-3168600	Weak transcription	HepG2	liver
49	chr4:3162600-3169600	Weak transcription	NH-A	brain
50	chr4:3162600-3169600	Weak transcription	NHEK	skin

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