Variant report

Variant	rs11985729
Chromosome Location	chr8:54756729-54756730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:54755079-54757792	GM12891	blood:	n/a	n/a
2	POLR2A	chr8:54756725-54757068	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54754073..54757431-chr8:54763114..54767534,4	K562	blood:
2	chr8:54755728..54757820-chr8:101732813..101735091,2	MCF-7	breast:
3	chr8:54755454..54757105-chr8:54791568..54794141,2	K562	blood:
4	chr8:54755685..54759999-chr8:54761654..54766287,5	MCF-7	breast:
5	chr8:54756527..54758810-chr8:55013753..55015339,2	K562	blood:
6	chr8:54754942..54758152-chr8:54933404..54936388,3	K562	blood:
7	chr8:53624816..53627483-chr8:54753343..54757526,4	K562	blood:
8	chr8:54756285..54757983-chr8:54774408..54775966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000147509	Chromatin interaction
ENSG00000070756	Chromatin interaction
ENSG00000023287	Chromatin interaction
ENSG00000120992	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004228	0.81[ASN][1000 genomes]
rs10504158	0.85[ASN][1000 genomes]
rs1384797	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483538	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1483540	0.81[ASN][1000 genomes]
rs1483542	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16919616	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1842982	0.82[ASN][1000 genomes]
rs1842983	0.81[ASN][1000 genomes]
rs1842984	0.81[ASN][1000 genomes]
rs2062226	0.82[ASN][1000 genomes]
rs2306584	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306585	0.97[ASN][1000 genomes]
rs3824121	0.83[ASN][1000 genomes]
rs4518622	0.81[ASN][1000 genomes]
rs57546155	0.83[ASN][1000 genomes]
rs57553178	0.89[EUR][1000 genomes]
rs60696924	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60819522	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61194604	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61433056	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473894	0.82[EUR][1000 genomes]
rs6994332	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997050	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6998532	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016171	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017291	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017967	0.80[ASN][1000 genomes]
rs73680325	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680341	0.82[ASN][1000 genomes]
rs73680342	0.80[ASN][1000 genomes]
rs73680346	0.89[EUR][1000 genomes]
rs7827611	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7831399	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7846259	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54754200-54756800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:54754400-54757200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:54756200-54756800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr8:54756200-54757400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:54756200-54757400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr8:54756200-54757600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr8:54756200-54757800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr8:54756200-54758000	Flanking Active TSS	GM12878-XiMat	blood
9	chr8:54756400-54756800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:54756400-54756800	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:54756400-54756800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr8:54756400-54756800	Enhancers	Placenta	Placenta
13	chr8:54756400-54756800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr8:54756400-54757200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr8:54756400-54757400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:54756400-54757400	Enhancers	Liver	Liver
17	chr8:54756400-54757600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:54756600-54756800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:54756600-54756800	Enhancers	Primary B cells from cord blood	blood
20	chr8:54756600-54756800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:54756600-54756800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:54756600-54756800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:54756600-54756800	Enhancers	Fetal Muscle Leg	muscle
24	chr8:54756600-54756800	Enhancers	HepG2	liver
25	chr8:54756600-54756800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:54756600-54757000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:54756600-54757000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:54756600-54757000	Weak transcription	Brain Anterior Caudate	brain
29	chr8:54756600-54757000	Enhancers	Colonic Mucosa	Colon
30	chr8:54756600-54757000	Enhancers	Fetal Thymus	thymus
31	chr8:54756600-54757200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:54756600-54757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:54756600-54757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:54756600-54757200	Enhancers	Brain Cingulate Gyrus	brain
35	chr8:54756600-54757200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr8:54756600-54757200	Active TSS	NHDF-Ad	bronchial
37	chr8:54756600-54757400	Enhancers	Primary T cells from cord blood	blood
38	chr8:54756600-54757400	Enhancers	Brain Angular Gyrus	brain
39	chr8:54756600-54757400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr8:54756600-54757400	Enhancers	Thymus	Thymus
41	chr8:54756600-54757400	Enhancers	Dnd41	blood
42	chr8:54756600-54757600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:54756600-54757600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:54756600-54757600	Enhancers	Brain Hippocampus Middle	brain
45	chr8:54756600-54757600	Enhancers	Colon Smooth Muscle	Colon
46	chr8:54756600-54757600	Enhancers	Rectal Smooth Muscle	rectum
47	chr8:54756600-54758600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:54756600-54758600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:54756600-54758800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:54756600-54758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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