Variant report

Variant	rs4836354
Chromosome Location	chr5:127332272-127332273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127329402..127331432-chr5:127331653..127333291,2	K562	blood:
2	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:
3	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10052149	0.86[ASN][1000 genomes]
rs10055964	0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10057048	0.84[ASN][1000 genomes]
rs10059403	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10076010	0.84[ASN][1000 genomes]
rs10463835	0.93[ASN][1000 genomes]
rs10463836	0.93[ASN][1000 genomes]
rs10478788	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10478790	0.86[ASN][1000 genomes]
rs10478791	0.91[ASN][1000 genomes]
rs10478792	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10519968	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10519977	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13154863	0.95[ASN][1000 genomes]
rs13167871	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13169878	0.94[ASN][1000 genomes]
rs13177354	0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs13184942	0.93[ASN][1000 genomes]
rs17164449	0.87[CEU][hapmap]
rs17606751	0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs17839662	0.81[EUR][1000 genomes]
rs1860058	0.81[EUR][1000 genomes]
rs2108652	0.84[ASN][1000 genomes]
rs34498802	0.95[ASN][1000 genomes]
rs35673135	0.92[ASN][1000 genomes]
rs35713319	0.88[ASN][1000 genomes]
rs3749746	0.80[EUR][1000 genomes]
rs4141241	0.84[JPT][hapmap]
rs4836352	0.93[ASN][1000 genomes]
rs56181801	0.81[EUR][1000 genomes]
rs59913942	0.81[EUR][1000 genomes]
rs6867103	0.86[ASN][1000 genomes]
rs6867442	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6867465	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6867644	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6889393	0.90[ASN][1000 genomes]
rs6895467	0.80[EUR][1000 genomes]
rs6897057	0.82[EUR][1000 genomes]
rs6897353	0.93[ASN][1000 genomes]
rs72792259	0.81[EUR][1000 genomes]
rs7444438	0.93[ASN][1000 genomes]
rs7711592	0.81[EUR][1000 genomes]
rs7711776	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7713304	0.81[EUR][1000 genomes]
rs7718065	0.81[EUR][1000 genomes]
rs7719691	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7722601	0.86[EUR][1000 genomes]
rs7723104	0.84[JPT][hapmap]
rs7732912	0.88[ASN][1000 genomes]
rs9327460	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9327461	0.88[ASN][1000 genomes]
rs9327462	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][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	nsv599665	chr5:127327649-127336709	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv511301	chr5:127327649-127337086	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127304000-127333400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:127306600-127333200	Weak transcription	Psoas Muscle	Psoas
4	chr5:127323800-127338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:127324000-127333200	Weak transcription	Left Ventricle	heart
6	chr5:127324000-127333200	Weak transcription	Pancreas	Pancrea
7	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
8	chr5:127324200-127334800	Weak transcription	K562	blood
9	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:127324400-127334400	Weak transcription	Gastric	stomach
11	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:127324400-127337400	Weak transcription	HMEC	breast
13	chr5:127324400-127337600	Weak transcription	NHEK	skin
14	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:127326200-127334800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
18	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
20	chr5:127328400-127333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:127329600-127333200	Weak transcription	Small Intestine	intestine
23	chr5:127329800-127334800	Weak transcription	A549	lung
24	chr5:127330200-127337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:127330400-127337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:127330800-127333000	Enhancers	Colon Smooth Muscle	Colon
27	chr5:127331400-127332800	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:127331400-127333000	Weak transcription	Brain Angular Gyrus	brain
29	chr5:127331400-127333000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:127331400-127333200	Weak transcription	Right Ventricle	heart
31	chr5:127331400-127333800	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:127331600-127333200	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:127331600-127334200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:127331600-127334400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:127331800-127333600	Enhancers	Ovary	ovary
36	chr5:127331800-127335600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:127332000-127332400	Strong transcription	Primary B cells from cord blood	blood
39	chr5:127332000-127332400	Strong transcription	Aorta	Aorta
40	chr5:127332000-127335400	Enhancers	Stomach Mucosa	stomach
41	chr5:127332200-127332400	Enhancers	Brain Substantia Nigra	brain
42	chr5:127332200-127332800	Enhancers	Brain Anterior Caudate	brain
43	chr5:127332200-127333000	Weak transcription	Right Atrium	heart
44	chr5:127332200-127333200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr5:127332200-127333600	Enhancers	Brain Hippocampus Middle	brain
46	chr5:127332200-127335600	Enhancers	Fetal Intestine Large	intestine
47	chr5:127332200-127335800	Enhancers	Duodenum Mucosa	Duodenum
48	chr5:127332200-127335800	Enhancers	Fetal Intestine Small	intestine

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