Variant report

Variant	rs4846769
Chromosome Location	chr1:222795243-222795244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222791253..222793444-chr1:222793463..222795812,3	MCF-7	breast:
2	chr1:222713330..222714959-chr1:222794373..222797061,2	MCF-7	breast:
3	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

Variant related genes	Relation type
ENSG00000143498	Chromatin interaction
ENSG00000225265	Chromatin interaction
ENSG00000143512	Chromatin interaction
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10495198	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1133220	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12138316	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17011681	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17163301	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17163313	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17163345	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17163358	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17163360	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17163363	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17465637	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17465940	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17465982	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2133187	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2133189	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2291832	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2291834	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2378584	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28709375	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34767248	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35158675	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35626308	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35700460	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3748626	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4575092	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4846384	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4846770	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67180937	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9441835	0.89[ASN][1000 genomes]
rs9441926	0.89[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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222800000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:222792600-222801400	Weak transcription	Lung	lung
4	chr1:222792600-222802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:222792600-222802200	Weak transcription	Aorta	Aorta
6	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:222792800-222795400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:222792800-222796000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:222792800-222796200	Weak transcription	A549	lung
11	chr1:222792800-222802000	Weak transcription	Colonic Mucosa	Colon
12	chr1:222793000-222795400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:222793000-222795600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:222793000-222795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:222793000-222796000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:222793000-222796200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:222793000-222797000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:222793000-222798800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:222793000-222799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:222793000-222799800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:222793000-222800200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:222793000-222802200	Weak transcription	HSMMtube	muscle
23	chr1:222793200-222795400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:222793200-222795400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:222793200-222795400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:222793200-222795400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:222793200-222795400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:222793200-222795400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:222793200-222795400	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:222793200-222795400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:222793200-222795400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:222793200-222795400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:222793200-222795400	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:222793200-222795400	Weak transcription	Psoas Muscle	Psoas
35	chr1:222793200-222795400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:222793200-222795400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:222793200-222795400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:222793200-222795400	Weak transcription	HSMM	muscle
39	chr1:222793200-222795600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:222793200-222795600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:222793200-222795600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:222793200-222795600	Weak transcription	Brain Angular Gyrus	brain
43	chr1:222793200-222795600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:222793200-222795600	Weak transcription	Esophagus	oesophagus
45	chr1:222793200-222795600	Weak transcription	Fetal Brain Male	brain
46	chr1:222793200-222795600	Weak transcription	Fetal Kidney	kidney
47	chr1:222793200-222795600	Weak transcription	NH-A	brain
48	chr1:222793200-222795800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:222793200-222795800	Weak transcription	Brain Anterior Caudate	brain
50	chr1:222793200-222796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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