Variant report

Variant	rs6942252
Chromosome Location	chr6:28521781-28521782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28511955..28518467-chr6:28519043..28523058,10	K562	blood:
2	chr6:28508469..28511332-chr6:28520528..28524271,3	K562	blood:
3	chr6:28519932..28522459-chr6:28575333..28577589,2	K562	blood:
4	chr6:28302151..28303808-chr6:28520859..28523227,2	K562	blood:

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10484541	1.00[YRI][hapmap]
rs12660763	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12661782	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12662929	0.85[ASN][1000 genomes]
rs16894166	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16894169	0.88[ASN][1000 genomes]
rs16894171	0.88[ASN][1000 genomes]
rs16894191	0.87[ASN][1000 genomes]
rs17315739	1.00[YRI][hapmap]
rs17393066	1.00[YRI][hapmap]
rs2064424	0.81[AMR][1000 genomes]
rs2143766	0.92[EUR][1000 genomes]
rs2232419	1.00[YRI][hapmap]
rs35327256	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35403242	0.81[AFR][1000 genomes]
rs392230	0.92[EUR][1000 genomes]
rs4711173	0.94[ASN][1000 genomes]
rs4711174	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4711175	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4713166	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4713173	0.87[ASN][1000 genomes]
rs4947335	0.90[ASN][1000 genomes]
rs55963280	0.89[ASN][1000 genomes]
rs56227726	0.89[ASN][1000 genomes]
rs58490223	0.87[ASN][1000 genomes]
rs62402376	0.94[ASN][1000 genomes]
rs62402378	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62402381	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62402390	0.83[ASN][1000 genomes]
rs62402392	0.89[ASN][1000 genomes]
rs62402394	0.87[ASN][1000 genomes]
rs62406542	0.87[ASN][1000 genomes]
rs62406553	0.81[ASN][1000 genomes]
rs6456824	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6933732	0.85[AMR][1000 genomes]
rs72850099	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs769189	0.81[AMR][1000 genomes]
rs7746909	0.87[ASN][1000 genomes]
rs7767144	0.88[ASN][1000 genomes]
rs9295775	0.87[ASN][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	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28520600-28522600	Flanking Active TSS	Liver	Liver
2	chr6:28520800-28523000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:28521200-28521800	Bivalent Enhancer	Fetal Kidney	kidney
4	chr6:28521200-28522000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:28521200-28522400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28521200-28522600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:28521200-28522600	Flanking Active TSS	K562	blood
8	chr6:28521200-28523200	Flanking Active TSS	HepG2	liver
9	chr6:28521400-28521800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:28521400-28521800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:28521400-28521800	Bivalent Enhancer	Fetal Heart	heart
12	chr6:28521400-28522200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:28521400-28522400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:28521400-28522400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr6:28521400-28522400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:28521400-28522400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr6:28521400-28522400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:28521400-28522400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:28521400-28522400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr6:28521400-28522600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:28521400-28522600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:28521400-28523200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:28521600-28521800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:28521600-28521800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
25	chr6:28521600-28521800	Bivalent Enhancer	Brain Substantia Nigra	brain
26	chr6:28521600-28521800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
27	chr6:28521600-28521800	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr6:28521600-28521800	Bivalent Enhancer	NHEK	skin
29	chr6:28521600-28522000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:28521600-28522000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:28521600-28522000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:28521600-28522000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr6:28521600-28522000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
34	chr6:28521600-28522000	Flanking Active TSS	Right Atrium	heart
35	chr6:28521600-28522000	Active TSS	HMEC	breast
36	chr6:28521600-28522200	Active TSS	Brain Anterior Caudate	brain
37	chr6:28521600-28522200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:28521600-28522200	Bivalent/Poised TSS	Placenta	Placenta
39	chr6:28521600-28522400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:28521600-28522400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
41	chr6:28521600-28522400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
42	chr6:28521600-28522400	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr6:28521600-28522400	Enhancers	Pancreas	Pancrea
44	chr6:28521600-28522400	Active TSS	Right Ventricle	heart
45	chr6:28521600-28522400	Active TSS	Osteobl	bone
46	chr6:28521600-28522600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr6:28521600-28522600	Active TSS	Brain Germinal Matrix	brain
48	chr6:28521600-28522600	Enhancers	Fetal Lung	lung
49	chr6:28521600-28523000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:28521600-28523200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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