Variant report

Variant	rs10911691
Chromosome Location	chr1:185193027-185193028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185192647..185194697-chr1:185200428..185202815,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10911689	1.00[AMR][1000 genomes]
rs12064379	1.00[AMR][1000 genomes]
rs12072067	1.00[AMR][1000 genomes]
rs12074509	1.00[AMR][1000 genomes]
rs12076354	1.00[AMR][1000 genomes]
rs12088208	1.00[AMR][1000 genomes]
rs16823735	1.00[AMR][1000 genomes]
rs55940524	1.00[AMR][1000 genomes]
rs56094240	1.00[AMR][1000 genomes]
rs58677790	1.00[AMR][1000 genomes]
rs58943906	1.00[AMR][1000 genomes]
rs59295359	1.00[AMR][1000 genomes]
rs60373073	1.00[AMR][1000 genomes]
rs74132215	1.00[AMR][1000 genomes]
rs74132217	1.00[AMR][1000 genomes]
rs74132289	1.00[AMR][1000 genomes]
rs74132300	1.00[AMR][1000 genomes]
rs74132493	1.00[AMR][1000 genomes]
rs74132494	1.00[AMR][1000 genomes]
rs74132495	1.00[AMR][1000 genomes]
rs74134440	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv1846729	chr1:185175837-185194885	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv946540	chr1:185191105-185200377	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 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	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:185128400-185201800	Weak transcription	Gastric	stomach
4	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:185148400-185193400	Weak transcription	Fetal Thymus	thymus
7	chr1:185151000-185193200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
10	chr1:185170800-185199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
12	chr1:185171400-185193200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
14	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
15	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
16	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
17	chr1:185183800-185199400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:185185200-185197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:185185400-185194000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:185185600-185193400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:185186200-185194200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:185188400-185197600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:185190200-185204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:185190600-185193200	Strong transcription	Placenta	Placenta
25	chr1:185190600-185201600	Weak transcription	Spleen	Spleen
26	chr1:185191400-185193200	Strong transcription	Fetal Lung	lung
27	chr1:185191400-185193600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr1:185191400-185194200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:185191600-185193200	Strong transcription	Ovary	ovary
30	chr1:185191600-185193600	Strong transcription	Left Ventricle	heart
31	chr1:185191800-185196200	Weak transcription	Fetal Heart	heart
32	chr1:185192000-185193200	Strong transcription	Fetal Intestine Large	intestine
33	chr1:185192000-185193200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:185192000-185193600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr1:185192000-185193600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr1:185192000-185193800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:185192200-185193600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:185192200-185193600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:185192200-185201400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:185192400-185193400	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr1:185192400-185193600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:185192400-185193600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:185192400-185193600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:185192400-185199600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:185192400-185200600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:185192400-185206200	Weak transcription	Brain Substantia Nigra	brain
47	chr1:185192400-185208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:185192600-185193200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:185192600-185193200	Weak transcription	Lung	lung

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