Variant report

Variant	rs665298
Chromosome Location	chr8:103911835-103911836
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	EBF1	chr8:103911591-103911888	GM12878	blood:	n/a	chr8:103911629-103911638 chr8:103911628-103911638
2	GATA1	chr8:103911392-103912177	PBDE	blood:	n/a	chr8:103911680-103911687 chr8:103911680-103911689 chr8:103911679-103911689
3	RUNX3	chr8:103911591-103911912	GM12878	blood:	n/a	n/a
4	RUNX3	chr8:103911515-103911947	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103910864..103914937-chr8:103922491..103926362,4	MCF-7	breast:
2	chr8:103878683..103881066-chr8:103911212..103913348,2	MCF-7	breast:
3	chr8:103909625..103914681-chr8:103915019..103918768,8	MCF-7	breast:
4	chr8:103911797..103913413-chr8:103915320..103917668,2	K562	blood:
5	chr8:103874983..103877501-chr8:103909403..103912170,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10104995	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1055376	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs10955294	0.82[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11776547	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993347	0.80[EUR][1000 genomes]
rs1434235	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1806299	0.94[YRI][hapmap]
rs2164061	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2256440	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2436844	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2513919	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2513921	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2513922	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2513935	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2570942	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2570947	0.92[ASN][1000 genomes]
rs2570950	0.92[ASN][1000 genomes]
rs2679741	0.85[YRI][hapmap]
rs2679742	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs2679749	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2679752	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2679754	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2679755	0.91[ASN][1000 genomes]
rs2679756	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2679757	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2679759	0.86[YRI][hapmap]
rs28594922	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916561	0.92[ASN][1000 genomes]
rs491770	0.81[AFR][1000 genomes]
rs492770	0.81[AFR][1000 genomes]
rs548488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551241	0.81[AFR][1000 genomes]
rs565720	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs567395	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs601588	0.85[YRI][hapmap]
rs647313	0.81[AFR][1000 genomes]
rs667927	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs678839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833202	0.81[YRI][hapmap]
rs892484	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs972142	0.89[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
3	chr8:103907200-103912800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:103907400-103915000	Weak transcription	Fetal Stomach	stomach
5	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
6	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
7	chr8:103907800-103922600	Weak transcription	Gastric	stomach
8	chr8:103908000-103913200	Weak transcription	Spleen	Spleen
9	chr8:103908800-103913000	Enhancers	Fetal Muscle Leg	muscle
10	chr8:103909000-103913400	Enhancers	Psoas Muscle	Psoas
11	chr8:103909200-103918200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:103909400-103918600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:103910000-103912000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr8:103910000-103913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:103910000-103914200	Enhancers	Fetal Thymus	thymus
16	chr8:103910200-103912000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:103910200-103913400	Enhancers	Thymus	Thymus
18	chr8:103910200-103915000	Weak transcription	Pancreas	Pancrea
19	chr8:103910800-103912400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:103910800-103915000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:103910800-103915400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:103910800-103921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:103911000-103913400	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:103911000-103915000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:103911000-103915000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:103911000-103915400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:103911000-103919000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:103911000-103922000	Weak transcription	Aorta	Aorta
29	chr8:103911200-103912000	Enhancers	Primary T cells from cord blood	blood
30	chr8:103911200-103912400	Weak transcription	HSMMtube	muscle
31	chr8:103911200-103913400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:103911200-103913800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:103911200-103914200	Weak transcription	Liver	Liver
34	chr8:103911200-103915000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:103911200-103915000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:103911200-103915400	Weak transcription	Small Intestine	intestine
37	chr8:103911400-103912800	Weak transcription	Right Ventricle	heart
38	chr8:103911400-103912800	Enhancers	Dnd41	blood
39	chr8:103911400-103913400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:103911400-103914800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:103911400-103915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:103911400-103915000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:103911400-103915000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:103911400-103915000	Weak transcription	HMEC	breast
45	chr8:103911400-103915600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:103911400-103915800	Weak transcription	HSMM	muscle
47	chr8:103911400-103918400	Weak transcription	Hela-S3	cervix
48	chr8:103911400-103922000	Weak transcription	Adipose Nuclei	Adipose
49	chr8:103911400-103922000	Weak transcription	Brain Substantia Nigra	brain
50	chr8:103911400-103922200	Weak transcription	Brain Cingulate Gyrus	brain

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