Variant report

Variant	rs11118843
Chromosome Location	chr1:221909914-221909915
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	chr1:221902184..221910150-chr1:221912477..221917248,16	K562	blood:
2	chr1:221859186..221861053-chr1:221907223..221909990,3	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12083290	1.00[AMR][1000 genomes]
rs17010274	1.00[AMR][1000 genomes]
rs17010355	1.00[AMR][1000 genomes]
rs6663427	1.00[AMR][1000 genomes]
rs6680495	1.00[AMR][1000 genomes]
rs6683393	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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221890800-221910200	Weak transcription	Lung	lung
2	chr1:221891800-221911000	Weak transcription	Gastric	stomach
3	chr1:221891800-221913000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:221893000-221913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:221897200-221914200	Weak transcription	Aorta	Aorta
6	chr1:221897400-221913400	Weak transcription	HepG2	liver
7	chr1:221897600-221910200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:221898600-221913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:221899400-221912400	Weak transcription	Esophagus	oesophagus
10	chr1:221899600-221912400	Weak transcription	Thymus	Thymus
11	chr1:221899800-221910800	Weak transcription	NH-A	brain
12	chr1:221900200-221911200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:221901400-221913800	Weak transcription	Placenta	Placenta
14	chr1:221901800-221913600	Weak transcription	Hela-S3	cervix
15	chr1:221901800-221913800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:221902400-221910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:221902600-221910000	Weak transcription	Primary T cells from cord blood	blood
18	chr1:221902600-221911200	Weak transcription	NHEK	skin
19	chr1:221903800-221912400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:221904000-221911200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:221904000-221911200	Weak transcription	Fetal Stomach	stomach
22	chr1:221904000-221912400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:221904000-221912600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:221904000-221913800	Weak transcription	Ovary	ovary
25	chr1:221905800-221913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:221906400-221912400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:221906400-221913000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:221906600-221910200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:221907000-221910200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:221907400-221910200	Weak transcription	Fetal Thymus	thymus
31	chr1:221907400-221910200	Weak transcription	Right Ventricle	heart
32	chr1:221907400-221910800	Enhancers	Psoas Muscle	Psoas
33	chr1:221907600-221910800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:221907600-221912600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:221907600-221912800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:221907600-221913600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr1:221907800-221913200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:221908200-221910200	Weak transcription	Fetal Lung	lung
39	chr1:221908200-221910800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:221908200-221911200	Weak transcription	Primary B cells from cord blood	blood
41	chr1:221908400-221911600	Active TSS	Fetal Brain Female	brain
42	chr1:221908400-221913000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
43	chr1:221908600-221910200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:221908600-221910200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:221908600-221910800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:221908600-221911000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:221908600-221912200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:221908600-221913400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:221908800-221911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:221908800-221911200	Active TSS	Brain Angular Gyrus	brain

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