Variant report

Variant	rs74106636
Chromosome Location	chr1:97557588-97557589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:97557162-97557619	PFSK-1	brain:	n/a	n/a
2	GATA3	chr1:97557062-97557826	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr1:97557231-97557693	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr1:97557311-97557620	SH-SY5Y	brain:	n/a	n/a
5	EP300	chr1:97557247-97557647	SK-N-SH_RA	brain:	n/a	n/a
6	JUND	chr1:97557122-97557760	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr1:97557171-97557818	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr1:97556759-97557939	SK-N-SH	brain:	n/a	n/a
9	JUN	chr1:97557454-97557614	K562	blood:	n/a	n/a
10	RAD21	chr1:97557267-97557632	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr1:97557129-97557837	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr1:97557111-97557826	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr1:97557012-97557796	SK-N-SH	brain:	n/a	n/a
14	EP300	chr1:97555828-97558121	SK-N-SH	brain:	n/a	chr1:97558012-97558021
15	POLR2A	chr1:97557228-97557686	SK-N-SH	brain:	n/a	n/a
16	GATA2	chr1:97557190-97557733	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
DPYD-AS1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12069444	1.00[AMR][1000 genomes]
rs290823	1.00[AMR][1000 genomes]
rs55737241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55890675	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56283857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57607396	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58372929	1.00[AMR][1000 genomes]
rs59996661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60455988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60480849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61208874	1.00[AMR][1000 genomes]
rs72726671	1.00[EUR][1000 genomes]
rs74104255	1.00[AMR][1000 genomes]
rs74104256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104259	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104311	1.00[AMR][1000 genomes]
rs74104313	1.00[AMR][1000 genomes]
rs74104319	1.00[AMR][1000 genomes]
rs74104321	1.00[AMR][1000 genomes]
rs74106608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106679	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106684	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106701	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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97537400-97559400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:97538000-97603600	Weak transcription	Psoas Muscle	Psoas
3	chr1:97538600-97561800	Weak transcription	Right Ventricle	heart
4	chr1:97538600-97562200	Weak transcription	Left Ventricle	heart
5	chr1:97538600-97562200	Weak transcription	Lung	lung
6	chr1:97539600-97559400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:97539600-97565000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:97540000-97566800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:97540400-97575200	Weak transcription	Ovary	ovary
10	chr1:97542200-97562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:97542400-97584800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:97542600-97560000	Weak transcription	Dnd41	blood
13	chr1:97542800-97562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:97543000-97562600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:97545200-97559600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:97545200-97559600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:97545200-97559800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:97545200-97561000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:97546200-97561400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:97549000-97562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:97550000-97559600	Weak transcription	NHLF	lung
22	chr1:97550800-97559200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:97552600-97574600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:97554200-97559000	Weak transcription	NH-A	brain
25	chr1:97554600-97558000	Enhancers	Fetal Stomach	stomach
26	chr1:97555200-97558400	Enhancers	Fetal Brain Male	brain
27	chr1:97555200-97559200	Weak transcription	Liver	Liver
28	chr1:97555800-97557600	Enhancers	Brain Substantia Nigra	brain
29	chr1:97556400-97557600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:97556400-97557800	Enhancers	Fetal Lung	lung
31	chr1:97556600-97557600	Enhancers	Brain Angular Gyrus	brain
32	chr1:97556600-97558000	Enhancers	Brain Hippocampus Middle	brain
33	chr1:97556600-97560600	Enhancers	HUVEC	blood vessel
34	chr1:97556800-97557600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:97556800-97557800	Enhancers	Brain Germinal Matrix	brain
36	chr1:97557000-97557600	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:97557000-97557600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:97557000-97557600	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:97557000-97557600	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:97557000-97558000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:97557000-97558000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:97557000-97564600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:97557200-97558200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:97557200-97559600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:97557200-97559800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:97557200-97562000	Weak transcription	Primary T cells from cord blood	blood
47	chr1:97557400-97557600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:97557400-97558200	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:97557400-97559400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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