Variant report

Variant	rs41301105
Chromosome Location	chr10:50604711-50604712
allele	A/G
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	EP300	chr10:50604685-50605149	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr10:50603041-50605982	SK-N-SH	brain:	n/a	chr10:50603639-50603655 chr10:50603985-50603994 chr10:50605960-50605976 chr10:50603939-50603955 chr10:50603571-50603581 chr10:50604287-50604297
3	POLR2A	chr10:50604037-50607119	H1-neurons	neurons:	n/a	n/a
4	GATA2	chr10:50604022-50604740	SH-SY5Y	brain:	n/a	chr10:50604417-50604425
5	EP300	chr10:50604694-50605154	SK-N-SH_RA	brain:	n/a	n/a
6	TEAD4	chr10:50604690-50605148	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr10:50602745-50607042	SK-N-SH	brain:	n/a	chr10:50602885-50602894 chr10:50604253-50604262 chr10:50604255-50604264
8	CHD1	chr10:50604671-50604736	GM12878	blood:	n/a	n/a
9	SUZ12	chr10:50602816-50607506	NT2-D1	testis:	n/a	n/a
10	POLR2A	chr10:50604100-50607124	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50604685..50607956-chr10:50611021..50613887,3	K562	blood:
2	chr10:50575926..50578521-chr10:50603618..50605883,2	K562	blood:
3	chr10:50599562..50602600-chr10:50603375..50606319,3	MCF-7	breast:
4	chr10:50582554..50584087-chr10:50604119..50606052,2	K562	blood:
5	chr10:50598458..50600419-chr10:50603443..50605608,2	MCF-7	breast:
6	chr10:50603990..50606695-chr10:50609277..50610871,2	K562	blood:
7	chr10:50599197..50602326-chr10:50603771..50607673,3	K562	blood:

Variant related genes	Relation type
DRGX	TF binding region
ENSG00000165606	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10508913	0.92[EUR][1000 genomes]
rs12572851	0.95[EUR][1000 genomes]
rs12572858	0.93[EUR][1000 genomes]
rs17009950	0.93[EUR][1000 genomes]
rs17009953	0.93[EUR][1000 genomes]
rs17176872	0.93[EUR][1000 genomes]
rs17176977	0.95[EUR][1000 genomes]
rs17177005	0.99[EUR][1000 genomes]
rs17783577	0.95[EUR][1000 genomes]
rs17783607	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849153	0.85[EUR][1000 genomes]
rs4012237	0.85[EUR][1000 genomes]
rs57455400	0.93[EUR][1000 genomes]
rs61848624	0.93[EUR][1000 genomes]
rs61848625	0.93[EUR][1000 genomes]
rs61848626	0.86[EUR][1000 genomes]
rs61848627	0.93[EUR][1000 genomes]
rs61848634	0.95[EUR][1000 genomes]
rs61848635	0.95[EUR][1000 genomes]
rs61848637	0.96[EUR][1000 genomes]
rs61848639	0.97[EUR][1000 genomes]
rs61848642	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848644	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848646	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61850964	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311930	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915692	0.90[EUR][1000 genomes]
rs7916121	0.88[EUR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50602800-50604800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr10:50602800-50606600	Enhancers	Pancreas	Pancrea
3	chr10:50602800-50607200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:50603000-50605000	Bivalent Enhancer	Brain Hippocampus Middle	brain
5	chr10:50603200-50605400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr10:50603200-50606800	Bivalent Enhancer	Fetal Brain Male	brain
7	chr10:50603400-50605000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:50603400-50607000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr10:50603600-50604800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr10:50603600-50605400	Bivalent Enhancer	Adipose Nuclei	Adipose
11	chr10:50603600-50605400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
12	chr10:50603800-50605200	Weak transcription	Gastric	stomach
13	chr10:50603800-50606000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:50604000-50605000	Bivalent Enhancer	Brain Anterior Caudate	brain
15	chr10:50604000-50605200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:50604200-50604800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr10:50604200-50605000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:50604200-50605000	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr10:50604200-50605200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr10:50604200-50605200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:50604200-50605200	Weak transcription	Right Atrium	heart
22	chr10:50604400-50605200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr10:50604400-50605200	Bivalent Enhancer	Fetal Brain Female	brain
24	chr10:50604600-50604800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:50604600-50604800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
26	chr10:50604600-50604800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr10:50604600-50605000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr10:50604600-50605200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr10:50604600-50605200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr10:50604600-50606600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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