Variant report

Variant	rs6595748
Chromosome Location	chr5:126404215-126404216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126400190..126402065-chr5:126403151..126404892,2	K562	blood:
2	chr5:126403524..126406456-chr5:126407438..126409383,3	MCF-7	breast:
3	chr5:126403735..126406499-chr5:126409532..126411387,2	K562	blood:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57434625	1.00[AMR][1000 genomes]
rs61021974	1.00[AMR][1000 genomes]
rs61292941	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61443321	1.00[AMR][1000 genomes]
rs6890333	1.00[AMR][1000 genomes]
rs73335432	1.00[AMR][1000 genomes]
rs73337224	1.00[AMR][1000 genomes]
rs73339266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339287	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342965	1.00[AMR][1000 genomes]
rs9687587	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126374600-126408400	Weak transcription	Psoas Muscle	Psoas
2	chr5:126377200-126409000	Weak transcription	Spleen	Spleen
3	chr5:126377400-126404600	Weak transcription	Left Ventricle	heart
4	chr5:126377400-126408400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:126378000-126408000	Weak transcription	Fetal Intestine Small	intestine
6	chr5:126378000-126408400	Weak transcription	Right Ventricle	heart
7	chr5:126378200-126408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:126378400-126408000	Weak transcription	HMEC	breast
9	chr5:126379200-126404800	Weak transcription	Brain Germinal Matrix	brain
10	chr5:126379400-126404600	Weak transcription	Fetal Heart	heart
11	chr5:126380400-126408000	Weak transcription	HepG2	liver
12	chr5:126381400-126408400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:126382400-126408600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:126386000-126406400	Weak transcription	Adipose Nuclei	Adipose
15	chr5:126388000-126408000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:126388200-126404400	Weak transcription	HSMM	muscle
17	chr5:126388600-126408400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:126388800-126406400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:126389000-126408400	Weak transcription	Thymus	Thymus
20	chr5:126390200-126408400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:126391400-126408200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:126391600-126408200	Weak transcription	A549	lung
23	chr5:126392000-126404400	Weak transcription	NH-A	brain
24	chr5:126392000-126408200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:126392000-126408200	Weak transcription	Fetal Kidney	kidney
26	chr5:126392000-126408200	Weak transcription	NHEK	skin
27	chr5:126392000-126408400	Weak transcription	Fetal Brain Female	brain
28	chr5:126392000-126408400	Weak transcription	HSMMtube	muscle
29	chr5:126392200-126408400	Weak transcription	Fetal Stomach	stomach
30	chr5:126392200-126408600	Weak transcription	Lung	lung
31	chr5:126392400-126408000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:126392400-126408400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:126392400-126408400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:126392400-126408400	Weak transcription	Pancreas	Pancrea
35	chr5:126392400-126408400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:126392400-126408600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:126392400-126408600	Weak transcription	Ovary	ovary
38	chr5:126392400-126408600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:126392600-126408000	Weak transcription	Liver	Liver
40	chr5:126392600-126408400	Weak transcription	Fetal Thymus	thymus
41	chr5:126392800-126405200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:126393600-126406800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:126393600-126412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:126393800-126408400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:126394000-126404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:126394000-126407600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:126394000-126408000	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:126394000-126408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:126394400-126406000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:126394600-126408400	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links