Variant report

Variant	rs11940430
Chromosome Location	chr4:99509453-99509454
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99502636..99505543-chr4:99509229..99510735,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10023449	0.84[ASN][1000 genomes]
rs10029405	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097622	0.91[ASN][1000 genomes]
rs1358546	0.91[ASN][1000 genomes]
rs1358547	0.91[ASN][1000 genomes]
rs1893713	0.90[ASN][1000 genomes]
rs2866016	0.89[ASN][1000 genomes]
rs4699354	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532751	0.92[ASN][1000 genomes]
rs7678323	0.81[ASN][1000 genomes]
rs883619	0.91[ASN][1000 genomes]
rs9996851	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:99505000-99510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:99505200-99510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:99506400-99509600	Enhancers	Fetal Brain Male	brain
5	chr4:99506800-99509600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:99507000-99513600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:99507400-99510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:99507600-99510400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:99508000-99509600	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr4:99508200-99510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:99508200-99513600	Weak transcription	NHEK	skin
12	chr4:99508400-99509600	Active TSS	Brain Hippocampus Middle	brain
13	chr4:99508400-99510200	Weak transcription	Spleen	Spleen
14	chr4:99508400-99510400	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:99508400-99510600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:99508400-99511200	Weak transcription	Fetal Lung	lung
17	chr4:99508600-99509600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr4:99508600-99509600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:99508600-99509600	Active TSS	HMEC	breast
20	chr4:99508600-99512000	Weak transcription	Ovary	ovary
21	chr4:99508600-99512800	Weak transcription	Fetal Heart	heart
22	chr4:99508800-99509600	Active TSS	Brain Anterior Caudate	brain
23	chr4:99508800-99523400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:99509000-99509600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr4:99509000-99509600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:99509000-99509600	Active TSS	NH-A	brain
27	chr4:99509200-99509600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:99509200-99510000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:99509400-99509600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:99509400-99509600	Weak transcription	Brain Angular Gyrus	brain
31	chr4:99509400-99509600	Weak transcription	Brain Substantia Nigra	brain
32	chr4:99509400-99509800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr4:99509400-99509800	Flanking Active TSS	Fetal Brain Female	brain
34	chr4:99509400-99510000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:99509400-99510000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:99509400-99510200	Weak transcription	HSMM	muscle
37	chr4:99509400-99510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:99509400-99520600	Weak transcription	Muscle Satellite Cultured Cells	--

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