Variant report

Variant	rs1977056
Chromosome Location	chr6:166794226-166794227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr6:166794069-166794233	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
2	chr6:166755781..166758045-chr6:166792453..166794502,3	K562	blood:
3	chr6:166750705..166753304-chr6:166793796..166795469,2	K562	blood:
4	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
5	chr6:166383156..166385383-chr6:166793262..166795662,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261420	TF binding region
ENSG00000233231	Chromatin interaction
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1546853	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1546854	0.88[EUR][1000 genomes]
rs1546855	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1569459	0.90[EUR][1000 genomes]
rs1569460	0.94[EUR][1000 genomes]
rs1569461	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977049	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1977050	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1977051	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1977052	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1977053	0.88[EUR][1000 genomes]
rs1977054	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179177	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2343591	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734605	0.92[EUR][1000 genomes]
rs3757194	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3757195	0.89[EUR][1000 genomes]
rs4305699	0.91[EUR][1000 genomes]
rs4710043	0.85[EUR][1000 genomes]
rs6456078	0.90[EUR][1000 genomes]
rs6456079	0.91[EUR][1000 genomes]
rs6456081	0.89[EUR][1000 genomes]
rs6905635	0.91[EUR][1000 genomes]
rs6906844	0.89[EUR][1000 genomes]
rs6912695	0.91[EUR][1000 genomes]
rs6918135	0.89[EUR][1000 genomes]
rs7449629	0.89[EUR][1000 genomes]
rs7744743	0.89[EUR][1000 genomes]
rs7752716	0.85[EUR][1000 genomes]
rs9283865	0.89[EUR][1000 genomes]
rs9295338	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9295341	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9295342	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9295343	0.89[EUR][1000 genomes]
rs9295344	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295345	0.86[EUR][1000 genomes]
rs9348123	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9348124	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9348125	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9348126	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9355574	0.89[EUR][1000 genomes]
rs9355575	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356482	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9356483	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9364845	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9364846	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364847	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364848	0.86[EUR][1000 genomes]
rs9366009	0.92[EUR][1000 genomes]
rs9366010	0.82[EUR][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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv3376653	chr6:166783590-166798116	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:166773200-166794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:166774800-166795000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:166775800-166794800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:166777400-166795400	Weak transcription	Gastric	stomach
5	chr6:166778200-166794600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:166778200-166795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:166778400-166794600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:166778400-166794600	Weak transcription	Fetal Intestine Small	intestine
9	chr6:166778400-166794600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:166778400-166794800	Weak transcription	Fetal Stomach	stomach
11	chr6:166778400-166795000	Weak transcription	Colonic Mucosa	Colon
12	chr6:166778600-166794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:166778600-166794600	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:166779400-166794600	Weak transcription	HSMM	muscle
15	chr6:166779400-166794800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:166779600-166794600	Weak transcription	Brain Angular Gyrus	brain
17	chr6:166779600-166794600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:166779600-166794600	Weak transcription	Brain Substantia Nigra	brain
19	chr6:166779600-166794600	Weak transcription	Thymus	Thymus
20	chr6:166779600-166794800	Weak transcription	Fetal Intestine Large	intestine
21	chr6:166779800-166794400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:166779800-166794600	Weak transcription	NH-A	brain
23	chr6:166780400-166794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:166780600-166794400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:166780600-166794600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:166780600-166794600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:166780600-166794600	Weak transcription	Fetal Lung	lung
28	chr6:166780600-166794800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:166780600-166795400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:166780800-166794600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:166780800-166794600	Weak transcription	Primary T cells from cord blood	blood
32	chr6:166780800-166794600	Weak transcription	HSMMtube	muscle
33	chr6:166782600-166794400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:166782600-166794600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:166782600-166794600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:166782600-166794800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:166782600-166794800	Weak transcription	Fetal Thymus	thymus
38	chr6:166782600-166795000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:166783600-166794600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:166783600-166794600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:166783800-166794800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:166784000-166794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:166784000-166794600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:166784200-166794400	Weak transcription	Right Atrium	heart
45	chr6:166784600-166794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:166788800-166794600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:166789000-166794600	Weak transcription	HMEC	breast
48	chr6:166789000-166794600	Weak transcription	NHEK	skin
49	chr6:166789000-166794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr6:166791000-166794600	Enhancers	Fetal Heart	heart

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