Variant report

Variant	rs12744941
Chromosome Location	chr1:94033612-94033613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94009051..94012452-chr1:94031131..94034191,3	K562	blood:
2	chr1:94031565..94034150-chr1:94311941..94313768,2	MCF-7	breast:
3	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
4	chr1:93912275..93915051-chr1:94031554..94034394,3	MCF-7	breast:
5	chr1:93952150..93954485-chr1:94031536..94034425,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000212601	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11576435	1.00[ASN][1000 genomes]
rs11577352	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579004	1.00[ASN][1000 genomes]
rs11579685	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580965	1.00[ASN][1000 genomes]
rs11588860	1.00[ASN][1000 genomes]
rs12066343	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12732557	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739747	1.00[ASN][1000 genomes]
rs12740779	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757325	1.00[ASN][1000 genomes]
rs12760092	1.00[ASN][1000 genomes]
rs17110063	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110101	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110111	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110225	1.00[ASN][1000 genomes]
rs17110370	1.00[ASN][1000 genomes]
rs1877603	1.00[ASN][1000 genomes]
rs1877604	1.00[ASN][1000 genomes]
rs1891138	1.00[ASN][1000 genomes]
rs2818163	1.00[ASN][1000 genomes]
rs34183660	1.00[ASN][1000 genomes]
rs34423897	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34663884	1.00[ASN][1000 genomes]
rs34666525	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34726063	1.00[ASN][1000 genomes]
rs35126293	1.00[ASN][1000 genomes]
rs35691338	1.00[ASN][1000 genomes]
rs35896714	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972761	1.00[ASN][1000 genomes]
rs36115605	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950119	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59996315	1.00[ASN][1000 genomes]
rs61780979	1.00[ASN][1000 genomes]
rs61780999	1.00[ASN][1000 genomes]
rs6660968	1.00[ASN][1000 genomes]
rs6666778	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677770	1.00[ASN][1000 genomes]
rs6679609	1.00[ASN][1000 genomes]
rs6683296	1.00[ASN][1000 genomes]
rs66966060	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043929	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67300695	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354439	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67511232	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652539	1.00[ASN][1000 genomes]
rs72721041	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511890	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531106	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543098	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543734	0.93[EUR][1000 genomes]
rs7543763	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553185	1.00[ASN][1000 genomes]
rs7555302	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761802	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94018600-94037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:94019200-94037400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:94020200-94034200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
6	chr1:94021000-94041200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
8	chr1:94024000-94044200	Strong transcription	HSMM	muscle
9	chr1:94024400-94040200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:94025000-94037600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:94025200-94043000	Strong transcription	Liver	Liver
13	chr1:94025200-94043000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
15	chr1:94025600-94035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:94025600-94043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
18	chr1:94025800-94037000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:94026000-94036000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:94026400-94040200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:94026800-94034400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr1:94027200-94037600	Weak transcription	Dnd41	blood
23	chr1:94027400-94036400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:94027600-94037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:94028000-94042600	Weak transcription	Fetal Kidney	kidney
26	chr1:94029000-94040600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:94030400-94038800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:94030800-94039600	Strong transcription	Brain Anterior Caudate	brain
30	chr1:94031000-94038600	Strong transcription	Gastric	stomach
31	chr1:94031000-94038800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
33	chr1:94031400-94034400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:94031400-94042000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:94031400-94042200	Strong transcription	Ovary	ovary
36	chr1:94031600-94034000	Genic enhancers	Fetal Intestine Small	intestine
37	chr1:94031600-94035400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:94031600-94035600	Genic enhancers	Placenta	Placenta
39	chr1:94031800-94034000	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr1:94031800-94034000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:94032000-94034000	Strong transcription	Fetal Lung	lung
43	chr1:94032000-94037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:94032000-94041000	Strong transcription	Fetal Stomach	stomach
45	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:94032200-94034000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:94032200-94034400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:94032200-94034400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:94032200-94035200	Strong transcription	Pancreas	Pancrea
50	chr1:94032200-94037600	Strong transcription	Spleen	Spleen

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