Variant report

Variant	rs6824330
Chromosome Location	chr4:99465931-99465932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99459317..99461488-chr4:99464335..99467316,2	K562	blood:
2	chr4:99460334..99463092-chr4:99464059..99466192,2	MCF-7	breast:
3	chr4:99463140..99464695-chr4:99465921..99468144,2	K562	blood:
4	chr4:99465722..99468319-chr4:99566226..99568875,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10030622	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17027701	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28618327	0.83[AMR][1000 genomes]
rs28784902	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4554081	0.82[AMR][1000 genomes]
rs4699347	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4699649	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4699653	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532743	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7679987	0.82[AMR][1000 genomes]
rs7691924	0.87[AMR][1000 genomes]
rs8180171	0.87[AMR][1000 genomes];0.83[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
2	chr4:99449800-99467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:99450200-99467400	Weak transcription	Osteobl	bone
4	chr4:99450800-99468000	Weak transcription	HSMM	muscle
5	chr4:99459000-99468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:99459200-99468000	Weak transcription	Esophagus	oesophagus
7	chr4:99459200-99479600	Weak transcription	Spleen	Spleen
8	chr4:99459600-99466000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:99459600-99467800	Weak transcription	NHLF	lung
10	chr4:99461000-99467400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:99463400-99467600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:99463600-99467600	Weak transcription	HMEC	breast
13	chr4:99463800-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:99464000-99468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:99464800-99467800	Enhancers	Fetal Brain Female	brain
16	chr4:99464800-99468000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:99465000-99466400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:99465000-99468400	Enhancers	Fetal Brain Male	brain
19	chr4:99465200-99466400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:99465200-99466400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:99465200-99466800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr4:99465400-99466000	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:99465400-99466200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:99465400-99466200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:99465400-99466200	Enhancers	Brain Anterior Caudate	brain
26	chr4:99465400-99466200	Enhancers	Fetal Heart	heart
27	chr4:99465400-99466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:99465400-99466400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:99465400-99466400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:99465400-99466400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr4:99465400-99466400	Enhancers	Brain Hippocampus Middle	brain
32	chr4:99465400-99466400	Enhancers	Fetal Muscle Leg	muscle
33	chr4:99465400-99466400	Enhancers	Thymus	Thymus
34	chr4:99465400-99466600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:99465400-99466600	Enhancers	Fetal Thymus	thymus
36	chr4:99465400-99466800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:99465400-99466800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:99465400-99466800	Enhancers	Brain Substantia Nigra	brain
39	chr4:99465400-99467000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:99465400-99467600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:99465400-99467800	Enhancers	Brain Angular Gyrus	brain
42	chr4:99465400-99467800	Enhancers	Fetal Lung	lung
43	chr4:99465600-99466000	Weak transcription	Ovary	ovary
44	chr4:99465600-99466400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr4:99465600-99466400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:99465600-99466400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr4:99465600-99466400	Enhancers	Brain Germinal Matrix	brain
48	chr4:99465600-99466800	Enhancers	HUVEC	blood vessel
49	chr4:99465800-99467400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:99465800-99467400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links