Variant report

Variant	rs56229427
Chromosome Location	chr4:166223007-166223008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11722307	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723812	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725104	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726821	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11729242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730816	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11733838	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34274617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35068327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129766	0.86[EUR][1000 genomes]
rs55951309	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56208210	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56919208	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57645545	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57715828	0.86[AFR][1000 genomes]
rs59089770	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59263314	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59639455	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60197231	0.93[AMR][1000 genomes]
rs60459687	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61149197	0.83[ASN][1000 genomes]
rs72993975	0.83[ASN][1000 genomes]
rs72995922	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995990	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995992	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995999	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997706	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73860621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73860622	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73860630	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73875268	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166198200-166230000	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:166210400-166229000	Weak transcription	HMEC	breast
3	chr4:166210600-166223200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
5	chr4:166216000-166223200	Weak transcription	Small Intestine	intestine
6	chr4:166216000-166236800	Weak transcription	Colonic Mucosa	Colon
7	chr4:166216200-166230000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:166216400-166231600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:166216400-166240200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:166218000-166232200	Weak transcription	Fetal Heart	heart
11	chr4:166219200-166223200	Weak transcription	Gastric	stomach
12	chr4:166219200-166225000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:166219200-166229000	Weak transcription	NHEK	skin
14	chr4:166219200-166240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:166219400-166223200	Weak transcription	Esophagus	oesophagus
16	chr4:166219400-166223200	Weak transcription	Pancreas	Pancrea
17	chr4:166219400-166223200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:166219400-166230000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:166219400-166230600	Weak transcription	Fetal Brain Female	brain
20	chr4:166219400-166246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:166219400-166246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:166219600-166230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:166219600-166230400	Weak transcription	Brain Germinal Matrix	brain
24	chr4:166219600-166233800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:166219600-166246800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:166220000-166223200	Weak transcription	Fetal Thymus	thymus
27	chr4:166220000-166229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:166220000-166231600	Weak transcription	Lung	lung
29	chr4:166220000-166232400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:166220000-166232600	Weak transcription	Left Ventricle	heart
31	chr4:166220000-166246600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:166220000-166247000	Weak transcription	Spleen	Spleen
33	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
34	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
35	chr4:166220200-166229800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:166220400-166226000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:166220800-166230200	Weak transcription	Fetal Intestine Small	intestine
38	chr4:166221000-166229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:166221000-166231600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:166221200-166232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:166221200-166235200	Weak transcription	Fetal Intestine Large	intestine
42	chr4:166221600-166224200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:166221600-166228600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:166221800-166223200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:166221800-166225800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:166221800-166231600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:166222000-166223600	Enhancers	Primary B cells from cord blood	blood
48	chr4:166222200-166223200	Enhancers	Brain Angular Gyrus	brain
49	chr4:166222200-166223800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:166222400-166223600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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