Variant report

Variant	rs61262802
Chromosome Location	chr1:47909850-47909851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:
2	chr1:47909602..47912152-chr1:48180599..48183294,2	K562	blood:
3	chr1:47909602..47912589-chr1:48194233..48196789,2	K562	blood:
4	chr1:47643392..47645618-chr1:47908506..47910318,2	K562	blood:

Variant related genes	Relation type
ENSG00000225506	Chromatin interaction
ENSG00000224805	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17103268	1.00[AMR][1000 genomes]
rs4528158	1.00[AMR][1000 genomes]
rs56758748	1.00[AMR][1000 genomes]
rs57028704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57162997	1.00[AMR][1000 genomes]
rs57407602	1.00[AMR][1000 genomes]
rs57525972	1.00[AMR][1000 genomes]
rs57869712	1.00[AMR][1000 genomes]
rs58495352	1.00[AMR][1000 genomes]
rs58544837	1.00[AMR][1000 genomes]
rs59163203	1.00[AMR][1000 genomes]
rs59697055	1.00[AMR][1000 genomes]
rs60145556	1.00[AMR][1000 genomes]
rs60407409	1.00[AMR][1000 genomes]
rs60658472	1.00[AMR][1000 genomes]
rs60774059	1.00[AMR][1000 genomes]
rs60947098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61121898	1.00[AMR][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	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47904800-47910000	Weak transcription	Pancreas	Pancrea
2	chr1:47906000-47910000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
3	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
4	chr1:47908800-47911200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr1:47909000-47910200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr1:47909000-47910400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:47909000-47910600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:47909000-47911200	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr1:47909000-47912000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:47909200-47910000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr1:47909200-47910000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:47909200-47910000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr1:47909200-47910000	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:47909200-47910200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:47909200-47910200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:47909200-47910200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:47909200-47910400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr1:47909200-47910400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chr1:47909200-47910400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:47909200-47910400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr1:47909200-47910600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr1:47909200-47910600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr1:47909200-47911000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:47909400-47910000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:47909400-47910000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:47909400-47910000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:47909400-47910200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:47909400-47910200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr1:47909400-47910200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr1:47909400-47910200	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr1:47909400-47910400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:47909400-47910400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr1:47909400-47910400	Bivalent Enhancer	Fetal Heart	heart
34	chr1:47909400-47910600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:47909400-47910600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:47909400-47910600	Bivalent Enhancer	Fetal Thymus	thymus
37	chr1:47909400-47910800	Enhancers	Lung	lung
38	chr1:47909400-47911400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr1:47909600-47910000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:47909600-47910000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:47909600-47910200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr1:47909600-47910800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr1:47909600-47911800	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr1:47909800-47910000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr1:47909800-47910000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr1:47909800-47910000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:47909800-47910000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:47909800-47910200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
49	chr1:47909800-47910200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr1:47909800-47910200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood

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