Variant report

Variant	rs9662844
Chromosome Location	chr1:120414174-120414175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120351224..120351770-chr1:120413201..120414211,3	K562	blood:
2	chr1:120286454..120287367-chr1:120413250..120414231,6	MCF-7	breast:
3	chr1:120413185..120414823-chr1:120510316..120511509,11	K562	blood:
4	chr1:120402638..120409843-chr1:120411143..120414879,6	K562	blood:
5	chr1:120400389..120402381-chr1:120411990..120414876,2	MCF-7	breast:
6	chr1:120413290..120414192-chr1:145061552..145062410,3	MCF-7	breast:
7	chr1:120286305..120287642-chr1:120412794..120414270,15	MCF-7	breast:
8	chr1:120412006..120414446-chr20:39570090..39572688,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134193	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10127888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10923920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923931	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12057420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060624	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12061487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061529	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17024432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17186372	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17258599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2027447	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2453040	1.00[JPT][hapmap]
rs2453058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2493389	1.00[JPT][hapmap]
rs2493391	1.00[JPT][hapmap]
rs2493392	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2493394	1.00[JPT][hapmap]
rs2641317	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2641346	1.00[JPT][hapmap]
rs2641352	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2793829	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2793831	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2843024	1.00[JPT][hapmap]
rs2934381	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2934387	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs327205	1.00[JPT][hapmap]
rs3897478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3911328	1.00[JPT][hapmap]
rs60234477	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60949447	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61447698	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668119	1.00[JPT][hapmap]
rs6669867	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67591840	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67765421	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67905606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699779	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7515431	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7534585	1.00[JPT][hapmap]
rs7534586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs835575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs835576	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120401400-120415000	Weak transcription	Fetal Kidney	kidney
2	chr1:120409600-120416000	Weak transcription	Fetal Lung	lung
3	chr1:120413400-120414400	Enhancers	Brain Germinal Matrix	brain
4	chr1:120413400-120417200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:120413600-120414200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:120413600-120415200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:120413600-120417000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:120413800-120414200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:120413800-120414200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:120413800-120414200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:120413800-120414200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:120413800-120414200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:120413800-120414200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:120413800-120414200	Enhancers	Adipose Nuclei	Adipose
15	chr1:120413800-120414200	Enhancers	Liver	Liver
16	chr1:120413800-120414200	Enhancers	Brain Hippocampus Middle	brain
17	chr1:120413800-120414200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:120413800-120414200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:120413800-120414200	Enhancers	Fetal Heart	heart
20	chr1:120413800-120414200	Enhancers	Pancreas	Pancrea
21	chr1:120413800-120414200	Enhancers	Stomach Mucosa	stomach
22	chr1:120413800-120414200	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:120413800-120414200	Active TSS	A549	lung
24	chr1:120413800-120414200	Flanking Active TSS	Dnd41	blood
25	chr1:120413800-120414200	Flanking Active TSS	Hela-S3	cervix
26	chr1:120413800-120414200	Enhancers	HMEC	breast
27	chr1:120413800-120414200	Flanking Active TSS	K562	blood
28	chr1:120413800-120414200	Enhancers	NH-A	brain
29	chr1:120413800-120414200	Flanking Active TSS	Osteobl	bone
30	chr1:120413800-120414400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:120413800-120414400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:120413800-120414400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:120413800-120414400	Enhancers	Right Atrium	heart
34	chr1:120413800-120414400	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr1:120413800-120414600	Enhancers	Colon Smooth Muscle	Colon
36	chr1:120413800-120414600	Enhancers	Fetal Muscle Leg	muscle
37	chr1:120413800-120414800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:120413800-120415200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:120413800-120417200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:120413800-120417200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:120413800-120417200	Enhancers	HSMM	muscle
42	chr1:120413800-120417200	Enhancers	NHDF-Ad	bronchial
43	chr1:120413800-120417200	Enhancers	NHLF	lung
44	chr1:120413800-120417600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:120414000-120414200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:120414000-120414200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:120414000-120414200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr1:120414000-120414200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:120414000-120414200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr1:120414000-120415200	Weak transcription	Fetal Muscle Trunk	muscle

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