Variant report

Variant	rs73618322
Chromosome Location	chr10:5988239-5988240
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	chr10:5988145-5988317	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:5987368-5988302	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr10:5986317-5988310	HUVEC	blood vessel:	n/a	n/a
4	CEBPB	chr10:5987745-5988318	HepG2	liver:	n/a	chr10:5987884-5987895 chr10:5987882-5987893 chr10:5987882-5987895
5	MYC	chr10:5987449-5988285	MCF10A-Er-Src	breast:	n/a	chr10:5987921-5987931
6	STAT3	chr10:5986331-5988300	MCF10A-Er-Src	breast:	n/a	chr10:5987916-5987928 chr10:5987265-5987273
7	POLR2A	chr10:5987362-5988508	HUVEC	blood vessel:	n/a	n/a
8	GATA2	chr10:5987206-5988301	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr10:5987330-5988364	HUVEC	blood vessel:	n/a	n/a
10	CEBPB	chr10:5987526-5988456	IMR90	lung:	n/a	chr10:5987884-5987895 chr10:5987882-5987893 chr10:5987882-5987895
11	POLR2A	chr10:5985575-5988373	IMR90	lung:	n/a	n/a
12	POLR2A	chr10:5985398-5988391	HUVEC	blood vessel:	n/a	n/a
13	FOS	chr10:5987600-5988276	HUVEC	blood vessel:	n/a	chr10:5987920-5987929 chr10:5987918-5987927
14	CTCF	chr10:5988100-5988250	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5987354..5989797-chr10:6018047..6020538,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232807	TF binding region
ENSG00000134470	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10737035	1.00[AMR][1000 genomes]
rs1359134	1.00[AMR][1000 genomes]
rs1408014	1.00[AMR][1000 genomes]
rs2246034	1.00[AMR][1000 genomes]
rs2478142	1.00[AMR][1000 genomes]
rs4405212	1.00[AMR][1000 genomes]
rs4607966	1.00[AMR][1000 genomes]
rs4749891	1.00[AMR][1000 genomes]
rs7078547	1.00[AMR][1000 genomes]
rs73616444	1.00[AMR][1000 genomes]
rs73618331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7896802	1.00[AMR][1000 genomes]
rs7911218	1.00[AMR][1000 genomes]
rs791594	1.00[AMR][1000 genomes]
rs7917819	1.00[AMR][1000 genomes]
rs7922099	1.00[AMR][1000 genomes]
rs8177588	1.00[AMR][1000 genomes]
rs8177595	1.00[AMR][1000 genomes]
rs8177615	1.00[AMR][1000 genomes]
rs8177629	1.00[AMR][1000 genomes]
rs8177632	1.00[AMR][1000 genomes]
rs8177687	1.00[AMR][1000 genomes]
rs8177718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804284	1.00[AMR][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:109 , 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	chr10:5983600-5988600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr10:5984600-5989000	Enhancers	Fetal Muscle Trunk	muscle
13	chr10:5985200-5989200	Enhancers	Spleen	Spleen
14	chr10:5985400-5988400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:5985400-5988400	Enhancers	Fetal Kidney	kidney
16	chr10:5985400-5988600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:5985600-5990000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr10:5986000-5988400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:5986200-5988400	Flanking Active TSS	HUVEC	blood vessel
20	chr10:5986200-5989000	Enhancers	Brain Substantia Nigra	brain
21	chr10:5986200-5991400	Weak transcription	Right Ventricle	heart
22	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
23	chr10:5986400-5988400	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr10:5986600-5988400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:5986600-5988400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr10:5986600-5988400	Flanking Active TSS	NHLF	lung
27	chr10:5986600-5988400	Flanking Active TSS	Osteobl	bone
28	chr10:5986800-5988400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr10:5986800-5988400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:5986800-5988400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:5986800-5988400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:5986800-5988400	Enhancers	Hela-S3	cervix
33	chr10:5986800-5989200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr10:5986800-5989400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:5986800-5995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:5987000-5988400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr10:5987000-5994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:5987200-5988400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:5987200-5988400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr10:5987200-5988400	Enhancers	Stomach Mucosa	stomach
41	chr10:5987200-5988600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:5987200-5991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:5987200-5991000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr10:5987200-5991000	Weak transcription	Fetal Intestine Small	intestine
45	chr10:5987400-5988400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:5987400-5988400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:5987400-5988400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:5987400-5988400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:5987400-5988400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:5987400-5988400	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links