Variant report

Variant	rs61862920
Chromosome Location	chr10:112581936-112581937
allele	C/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	TAL1	chr10:112581718-112582066	K562	blood:	n/a	chr10:112581903-112581911
2	MAX	chr10:112581841-112582150	K562	blood:	n/a	n/a
3	GATA3	chr10:112581824-112583633	MCF-7	breast:	n/a	chr10:112581839-112581847 chr10:112582000-112582009
4	GATA1	chr10:112581538-112582202	PBDE	blood:	n/a	chr10:112581839-112581847 chr10:112582000-112582009
5	MYC	chr10:112581739-112582194	K562	blood:	n/a	n/a
6	MYC	chr10:112581766-112582196	K562	blood:	n/a	n/a
7	REST	chr10:112581763-112583624	H1-neurons	neurons:	n/a	n/a
8	MEF2A	chr10:112581796-112582192	K562	blood:	n/a	chr10:112581985-112581996 chr10:112581983-112581998 chr10:112581979-112582000 chr10:112581979-112582000 chr10:112581983-112581998
9	RCOR1	chr10:112581769-112582179	K562	blood:	n/a	n/a
10	TEAD4	chr10:112581698-112582153	K562	blood:	n/a	n/a
11	GATA3	chr10:112581765-112582149	T-47D	breast:	n/a	chr10:112581839-112581847 chr10:112582000-112582009
12	BHLHE40	chr10:112581633-112582191	K562	blood:	n/a	n/a
13	MAX	chr10:112581813-112582205	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:112580829..112583649-chr10:112594219..112597550,3	MCF-7	breast:
2	chr10:112580361..112582375-chr10:112638543..112641379,2	MCF-7	breast:
3	chr10:112580700..112582499-chr10:112597516..112599127,2	K562	blood:
4	chr10:112581444..112587243-chr10:112629842..112633404,6	MCF-7	breast:
5	chr10:112579505..112583802-chr10:112587400..112591373,5	MCF-7	breast:
6	chr10:112581723..112584048-chr10:112629413..112632345,2	K562	blood:
7	chr10:112580755..112589346-chr10:112627817..112636075,27	MCF-7	breast:

Variant related genes	Relation type
RBM20	TF binding region
ENSG00000203867	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000232470	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60838227	1.00[ASN][1000 genomes]
rs61862916	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61862919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61862922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7073553	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv467455	chr10:112579299-112612471	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv552172	chr10:112579299-112612471	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112572600-112593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:112572800-112582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:112575200-112582400	Enhancers	Esophagus	oesophagus
4	chr10:112575800-112583600	Enhancers	Right Atrium	heart
5	chr10:112576200-112583200	Enhancers	Pancreas	Pancrea
6	chr10:112576800-112584800	Enhancers	Psoas Muscle	Psoas
7	chr10:112577200-112590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:112577400-112584800	Enhancers	Fetal Stomach	stomach
9	chr10:112577600-112583000	Enhancers	Adipose Nuclei	Adipose
10	chr10:112577800-112582400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr10:112577800-112582400	Enhancers	Right Ventricle	heart
12	chr10:112577800-112593400	Weak transcription	Thymus	Thymus
13	chr10:112578000-112583800	Enhancers	Fetal Brain Male	brain
14	chr10:112578200-112582200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:112578200-112582600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:112578200-112582600	Weak transcription	Primary B cells from cord blood	blood
17	chr10:112578200-112583000	Enhancers	Ovary	ovary
18	chr10:112578200-112584800	Enhancers	Placenta	Placenta
19	chr10:112578200-112585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:112578400-112583200	Enhancers	Aorta	Aorta
21	chr10:112578400-112583200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:112578600-112583400	Enhancers	Fetal Lung	lung
23	chr10:112578600-112584800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr10:112578800-112587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:112578800-112592400	Weak transcription	Primary T cells from cord blood	blood
26	chr10:112579000-112582200	Weak transcription	GM12878-XiMat	blood
27	chr10:112579200-112583600	Enhancers	Brain Angular Gyrus	brain
28	chr10:112579400-112582600	Enhancers	Left Ventricle	heart
29	chr10:112579400-112586000	Enhancers	Brain Germinal Matrix	brain
30	chr10:112579600-112582200	Enhancers	NHDF-Ad	bronchial
31	chr10:112579600-112582800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:112579600-112583000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr10:112579800-112583400	Enhancers	Brain Cingulate Gyrus	brain
34	chr10:112579800-112583400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr10:112580200-112583000	Weak transcription	Small Intestine	intestine
36	chr10:112580200-112583400	Enhancers	Fetal Brain Female	brain
37	chr10:112580400-112583000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr10:112580400-112583800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:112580400-112586800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:112580400-112587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:112580400-112587600	Weak transcription	Liver	Liver
42	chr10:112580400-112589800	Enhancers	Colon Smooth Muscle	Colon
43	chr10:112580600-112582000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr10:112580600-112582600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:112580600-112582600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr10:112580600-112583000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:112580600-112587000	Weak transcription	Lung	lung
48	chr10:112580800-112582000	Flanking Active TSS	Fetal Heart	heart
49	chr10:112580800-112585000	Enhancers	Fetal Intestine Large	intestine
50	chr10:112581000-112582000	Flanking Active TSS	HSMMtube	muscle

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