Variant report

Variant	rs41293989
Chromosome Location	chr10:5988944-5988945
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5985856..5987611-chr10:5988496..5991234,3	MCF-7	breast:
2	chr10:5984591..5988686-chr10:5988894..5992544,7	K562	blood:
3	chr10:5987354..5989797-chr10:6018047..6020538,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232807	Chromatin interaction
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12722596	1.00[AFR][1000 genomes]
rs12722610	1.00[AFR][1000 genomes]
rs1323653	1.00[AFR][1000 genomes]
rs3750664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41293983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294013	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294041	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41294149	1.00[AMR][1000 genomes]
rs41294153	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs41294155	0.82[EUR][1000 genomes]
rs41294595	1.00[AFR][1000 genomes]
rs41294609	1.00[AFR][1000 genomes]
rs41294625	1.00[AFR][1000 genomes]
rs41294627	1.00[AFR][1000 genomes]
rs41294655	1.00[AFR][1000 genomes]
rs41295261	1.00[AFR][1000 genomes]
rs41295265	1.00[AFR][1000 genomes]
rs62626308	1.00[AFR][1000 genomes]
rs8177645	0.80[ASN][1000 genomes]
rs8177782	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5969600-6012000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:5971400-6013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:5980000-5991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:5980000-6013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr10:5980800-5991000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:5980800-5994600	Weak transcription	Gastric	stomach
7	chr10:5980800-6017800	Weak transcription	Thymus	Thymus
8	chr10:5981000-6003600	Weak transcription	Primary T cells from cord blood	blood
9	chr10:5982800-5995000	Weak transcription	GM12878-XiMat	blood
10	chr10:5983400-5989000	Enhancers	Fetal Stomach	stomach
11	chr10:5984600-5989000	Enhancers	Fetal Muscle Trunk	muscle
12	chr10:5985200-5989200	Enhancers	Spleen	Spleen
13	chr10:5985600-5990000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr10:5986200-5989000	Enhancers	Brain Substantia Nigra	brain
15	chr10:5986200-5991400	Weak transcription	Right Ventricle	heart
16	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
17	chr10:5986800-5989200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:5986800-5989400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:5986800-5995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:5987000-5994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:5987200-5991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:5987200-5991000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr10:5987200-5991000	Weak transcription	Fetal Intestine Small	intestine
24	chr10:5987400-5989200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr10:5987600-5989000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:5987600-5991000	Weak transcription	Pancreas	Pancrea
27	chr10:5987600-5991000	Weak transcription	A549	lung
28	chr10:5987600-5992400	Weak transcription	Brain Angular Gyrus	brain
29	chr10:5987600-6018000	Weak transcription	Psoas Muscle	Psoas
30	chr10:5987800-5989200	Enhancers	Brain Anterior Caudate	brain
31	chr10:5987800-5989200	Enhancers	Left Ventricle	heart
32	chr10:5987800-5989200	Enhancers	Lung	lung
33	chr10:5987800-5989200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr10:5987800-5989200	Weak transcription	K562	blood
35	chr10:5987800-5989400	Enhancers	Fetal Muscle Leg	muscle
36	chr10:5987800-5992400	Weak transcription	Esophagus	oesophagus
37	chr10:5987800-5993600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:5987800-6017800	Weak transcription	Fetal Thymus	thymus
39	chr10:5988000-5989400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr10:5988000-5989400	Enhancers	Placenta	Placenta
41	chr10:5988000-5994000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:5988000-5995000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:5988000-6000800	Weak transcription	Colonic Mucosa	Colon
44	chr10:5988000-6001400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:5988200-5989400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr10:5988200-5989400	Enhancers	Primary hematopoietic stem cells	blood
47	chr10:5988200-5989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:5988200-5989400	Enhancers	Adipose Nuclei	Adipose
49	chr10:5988200-5991200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:5988200-5991200	Weak transcription	Brain Cingulate Gyrus	brain

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