Variant report

Variant	rs34592529
Chromosome Location	chr6:37861882-37861883
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37854831..37859248-chr6:37860232..37864769,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10485029	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1074234	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947707	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1187421	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190570	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192182	0.90[AFR][1000 genomes]
rs12211981	0.87[AFR][1000 genomes]
rs13210701	0.89[AFR][1000 genomes]
rs13214465	0.84[AFR][1000 genomes]
rs2055206	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259673	0.81[AFR][1000 genomes]
rs259679	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259686	0.87[AFR][1000 genomes]
rs259690	0.87[AFR][1000 genomes]
rs259691	0.87[AFR][1000 genomes]
rs259713	0.81[AFR][1000 genomes]
rs259718	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645117	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645124	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34871463	0.93[AFR][1000 genomes]
rs35806631	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35925070	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470706	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37841600-37862400	Weak transcription	Fetal Lung	lung
2	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
3	chr6:37850600-37865800	Weak transcription	HSMMtube	muscle
4	chr6:37850600-37869200	Weak transcription	Lung	lung
5	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:37850800-37865200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:37851000-37862200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:37851000-37866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:37851000-37868800	Weak transcription	Ovary	ovary
10	chr6:37851000-37869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:37855600-37865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:37856000-37871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:37857000-37865200	Weak transcription	HepG2	liver
15	chr6:37857200-37865000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:37857200-37865000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:37857200-37871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:37857200-37871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:37857200-37871400	Weak transcription	Aorta	Aorta
20	chr6:37857400-37865000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:37857400-37871800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:37857600-37862200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:37857600-37863400	Weak transcription	Liver	Liver
24	chr6:37857600-37863600	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:37857600-37871800	Weak transcription	Right Atrium	heart
26	chr6:37857600-37871800	Weak transcription	Stomach Mucosa	stomach
27	chr6:37857600-37872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:37857600-37886000	Weak transcription	Esophagus	oesophagus
29	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
30	chr6:37857800-37864400	Weak transcription	NH-A	brain
31	chr6:37858000-37862200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:37858000-37877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:37858200-37864400	Weak transcription	Psoas Muscle	Psoas
34	chr6:37858200-37869400	Weak transcription	Left Ventricle	heart
35	chr6:37858200-37871200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:37858400-37864000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:37858400-37864000	Weak transcription	NHEK	skin
38	chr6:37858800-37864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:37859000-37864400	Weak transcription	HMEC	breast
40	chr6:37859000-37865000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:37859200-37864000	Weak transcription	A549	lung
42	chr6:37859800-37862000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:37860200-37862400	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:37860600-37862000	Enhancers	GM12878-XiMat	blood
45	chr6:37861200-37865000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:37861200-37865400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:37861400-37862200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:37861400-37862200	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr6:37861400-37862600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr6:37861400-37863200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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