Variant report

Variant	rs2127759
Chromosome Location	chr6:49462017-49462018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49458471..49460387-chr6:49460980..49463015,2	K562	blood:
2	chr6:49460315..49462517-chr6:49463838..49466982,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10948505	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948506	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964378	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189789	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12190697	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12191171	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12197340	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204398	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214010	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214609	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17663557	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229385	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57912929	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6928563	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7755833	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756016	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7774623	0.87[EUR][1000 genomes];0.90[ASN][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	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1019611	chr6:49431569-49470663	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1793167	chr6:49459978-49466686	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1799212	chr6:49459978-49466791	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
3	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:49432600-49472000	Weak transcription	NHEK	skin
7	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
8	chr6:49441000-49464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:49448400-49464600	Weak transcription	Gastric	stomach
10	chr6:49449800-49463000	Weak transcription	Lung	lung
11	chr6:49449800-49465000	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:49450400-49464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:49450600-49462600	Weak transcription	Thymus	Thymus
14	chr6:49450600-49464000	Weak transcription	Spleen	Spleen
15	chr6:49451400-49467400	Weak transcription	Fetal Intestine Small	intestine
16	chr6:49451600-49464000	Weak transcription	Fetal Stomach	stomach
17	chr6:49454000-49465200	Weak transcription	Fetal Brain Male	brain
18	chr6:49454800-49463400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:49455000-49462200	Weak transcription	Psoas Muscle	Psoas
20	chr6:49455200-49463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:49455600-49462200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:49456200-49462200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr6:49456200-49462800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:49456400-49465000	Weak transcription	HSMMtube	muscle
25	chr6:49456800-49463200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:49457000-49462800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:49457000-49464800	Weak transcription	Fetal Kidney	kidney
28	chr6:49457200-49463400	Weak transcription	Aorta	Aorta
29	chr6:49457200-49465000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:49457400-49462800	Weak transcription	Placenta	Placenta
31	chr6:49457600-49463800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:49458000-49462600	Weak transcription	Fetal Brain Female	brain
33	chr6:49458000-49464200	Weak transcription	Brain Germinal Matrix	brain
34	chr6:49458000-49466600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:49458200-49463400	Weak transcription	Fetal Heart	heart
36	chr6:49458400-49472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:49458600-49462600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:49458600-49464000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:49458600-49464600	Weak transcription	Left Ventricle	heart
40	chr6:49458600-49473800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:49458800-49462400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:49458800-49463000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:49458800-49465000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:49459000-49462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:49459000-49462200	Weak transcription	HSMM	muscle
46	chr6:49459000-49464200	Weak transcription	Adipose Nuclei	Adipose
47	chr6:49459000-49464400	Weak transcription	Liver	Liver
48	chr6:49459000-49464400	Weak transcription	K562	blood
49	chr6:49459200-49463000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:49459400-49462400	Weak transcription	Primary B cells from cord blood	blood

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