Variant report

Variant	rs61782938
Chromosome Location	chr1:10225598-10225599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10224653..10226534-chr1:10269506..10271453,2	K562	blood:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12092513	0.99[ASN][1000 genomes]
rs17034545	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034558	1.00[ASN][1000 genomes]
rs17034560	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782920	1.00[EUR][1000 genomes]
rs61782925	0.89[ASN][1000 genomes]
rs61782926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61782927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61782933	1.00[ASN][1000 genomes]
rs61782936	1.00[ASN][1000 genomes]
rs61782937	1.00[ASN][1000 genomes]
rs6659436	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667049	0.81[ASN][1000 genomes]
rs6692491	0.80[ASN][1000 genomes]
rs6700518	0.91[ASN][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
8	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
10	chr1:10201600-10231200	Weak transcription	HMEC	breast
11	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
12	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
14	chr1:10213200-10231000	Weak transcription	A549	lung
15	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:10215200-10229200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
21	chr1:10217800-10226800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:10217800-10230200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:10218000-10226600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:10218000-10226800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:10218000-10226800	Strong transcription	Fetal Thymus	thymus
26	chr1:10218000-10226800	Strong transcription	Lung	lung
27	chr1:10218000-10234600	Strong transcription	Liver	Liver
28	chr1:10218200-10226600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:10218200-10229600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:10218400-10236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:10219200-10226800	Strong transcription	Primary B cells from cord blood	blood
34	chr1:10219800-10226400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:10219800-10226800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:10219800-10229600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:10219800-10234000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:10220000-10230200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:10220000-10233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:10220800-10226600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:10221000-10226800	Strong transcription	Thymus	Thymus
42	chr1:10221000-10236400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:10221000-10236600	Strong transcription	Adipose Nuclei	Adipose
44	chr1:10221200-10226400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:10221200-10230400	Strong transcription	Fetal Intestine Small	intestine
46	chr1:10221600-10229800	Strong transcription	Fetal Intestine Large	intestine
47	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:10222000-10226400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:10222000-10226600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:10222000-10227800	Weak transcription	NHDF-Ad	bronchial

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