Variant report

Variant	rs11119921
Chromosome Location	chr1:212513359-212513360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212513172..212515039-chr1:212516122..212517932,2	K562	blood:
2	chr1:212513172..212515578-chr1:212516432..212518489,2	K562	blood:
3	chr1:212207030..212209974-chr1:212512644..212514933,2	K562	blood:
4	chr1:212510945..212513653-chr1:212522569..212524756,2	K562	blood:

Variant related genes	Relation type
ENSG00000143493	Chromatin interaction
ENSG00000143476	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1011232	1.00[AFR][1000 genomes]
rs11119918	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11119928	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12116770	1.00[AFR][1000 genomes]
rs12119183	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12127954	1.00[AFR][1000 genomes]
rs12133636	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12134276	1.00[AFR][1000 genomes]
rs12134599	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212467400-212526000	Weak transcription	A549	lung
2	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
3	chr1:212486200-212526000	Weak transcription	HUVEC	blood vessel
4	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
5	chr1:212493800-212533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:212498000-212526200	Weak transcription	Fetal Brain Male	brain
7	chr1:212499800-212525400	Weak transcription	Gastric	stomach
8	chr1:212500000-212540400	Weak transcription	Stomach Mucosa	stomach
9	chr1:212501000-212533600	Weak transcription	Fetal Heart	heart
10	chr1:212501400-212525800	Weak transcription	Pancreas	Pancrea
11	chr1:212501400-212526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:212501400-212540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:212501800-212540800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:212502200-212516600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:212502200-212526000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:212502400-212528200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:212502800-212514000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:212502800-212541400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:212503000-212519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:212504000-212548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:212504200-212525600	Weak transcription	Spleen	Spleen
24	chr1:212504400-212537600	Weak transcription	Psoas Muscle	Psoas
25	chr1:212504600-212513800	Strong transcription	Liver	Liver
26	chr1:212504800-212525800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:212504800-212526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:212505000-212525600	Weak transcription	Colonic Mucosa	Colon
29	chr1:212505200-212531400	Weak transcription	HMEC	breast
30	chr1:212505400-212513400	Strong transcription	Fetal Thymus	thymus
31	chr1:212505800-212520200	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:212505800-212533200	Weak transcription	NH-A	brain
33	chr1:212506000-212514800	Strong transcription	Adipose Nuclei	Adipose
34	chr1:212506200-212518400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:212507400-212525400	Weak transcription	Esophagus	oesophagus
36	chr1:212507400-212525600	Weak transcription	Brain Anterior Caudate	brain
37	chr1:212507400-212526000	Weak transcription	HSMM	muscle
38	chr1:212507600-212519200	Weak transcription	K562	blood
39	chr1:212507600-212526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:212507800-212519200	Weak transcription	NHDF-Ad	bronchial
41	chr1:212507800-212520800	Weak transcription	Ovary	ovary
42	chr1:212507800-212526000	Weak transcription	Fetal Brain Female	brain
43	chr1:212508000-212515000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:212508000-212515000	Weak transcription	Thymus	Thymus
45	chr1:212508000-212516400	Weak transcription	Left Ventricle	heart
46	chr1:212508000-212519200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:212508000-212519200	Weak transcription	Right Ventricle	heart
48	chr1:212508000-212519200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:212508000-212520800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:212508000-212523400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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