Variant report

Variant	rs61811916
Chromosome Location	chr1:155045004-155045005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155042381..155045033-chr1:155159357..155160915,2	K562	blood:
2	chr1:155043298..155045785-chr1:155097000..155098923,2	MCF-7	breast:
3	chr1:154716318..154718398-chr1:155044382..155046535,2	K562	blood:
4	chr1:154973764..154975994-chr1:155043065..155045959,3	K562	blood:
5	chr1:155013927..155032770-chr1:155044175..155061131,53	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273088	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000143537	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs41264285	0.88[AFR][1000 genomes]
rs6427137	1.00[ASN][1000 genomes]
rs6675468	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702269	1.00[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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155043400-155045200	Enhancers	Fetal Brain Male	brain
2	chr1:155043400-155045800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:155043400-155046000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155043600-155045400	Bivalent Enhancer	Fetal Thymus	thymus
5	chr1:155043800-155045200	Enhancers	Esophagus	oesophagus
6	chr1:155043800-155050800	Weak transcription	A549	lung
7	chr1:155044000-155045600	Weak transcription	HMEC	breast
8	chr1:155044000-155046000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:155044000-155046000	Enhancers	Primary T cells from cord blood	blood
10	chr1:155044000-155046000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:155044000-155046200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:155044000-155046200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:155044000-155046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:155044000-155048000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:155044000-155051000	Weak transcription	Pancreas	Pancrea
16	chr1:155044000-155051000	Weak transcription	Right Atrium	heart
17	chr1:155044200-155045200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:155044200-155045200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:155044200-155045200	Enhancers	Fetal Brain Female	brain
20	chr1:155044200-155045200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:155044200-155045200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr1:155044200-155045400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr1:155044200-155045400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:155044200-155045600	Weak transcription	NHEK	skin
25	chr1:155044200-155045800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:155044200-155046000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:155044200-155046000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:155044200-155046200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr1:155044200-155046200	Weak transcription	GM12878-XiMat	blood
30	chr1:155044200-155046800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:155044200-155047400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:155044200-155050000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:155044200-155050800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:155044400-155045800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr1:155044400-155045800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:155044400-155046000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr1:155044400-155046000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr1:155044400-155046200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:155044400-155046200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:155044400-155046400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr1:155044600-155045800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:155044600-155045800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:155044600-155046000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:155044600-155046000	Enhancers	K562	blood
45	chr1:155044600-155046200	Weak transcription	Primary B cells from cord blood	blood
46	chr1:155044600-155050600	Weak transcription	Spleen	Spleen
47	chr1:155044600-155050800	Weak transcription	Lung	lung
48	chr1:155044600-155051000	Weak transcription	Gastric	stomach
49	chr1:155044800-155045600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr1:155044800-155045800	Weak transcription	Primary B cells from peripheral blood	blood

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