Variant report

Variant	rs6848487
Chromosome Location	chr4:7914424-7914425
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	chr4:7913036..7915601-chr4:7939958..7942637,2	MCF-7	breast:
2	chr4:7913753..7915419-chr4:7919599..7921984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	Chromatin interaction
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17770147	1.00[YRI][hapmap]
rs17770177	1.00[YRI][hapmap]
rs28373141	1.00[AMR][1000 genomes]
rs28444363	1.00[AMR][1000 genomes]
rs4296663	1.00[YRI][hapmap]
rs4411970	1.00[YRI][hapmap]
rs4689865	1.00[YRI][hapmap]
rs58253022	1.00[AMR][1000 genomes]
rs62636597	1.00[AMR][1000 genomes]
rs6814511	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6814649	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6824266	1.00[YRI][hapmap]
rs6826354	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6829537	1.00[YRI][hapmap]
rs6834502	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6845014	1.00[YRI][hapmap]
rs6848279	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6848677	1.00[AMR][1000 genomes]
rs6856371	0.83[YRI][hapmap]
rs6856795	0.82[YRI][hapmap]
rs7664180	1.00[AMR][1000 genomes]
rs7665218	1.00[AMR][1000 genomes]
rs9683795	0.82[YRI][hapmap]

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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:7903600-7915000	Enhancers	Fetal Stomach	stomach
3	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
4	chr4:7909200-7925400	Weak transcription	Hela-S3	cervix
5	chr4:7911200-7917000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:7911400-7917400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:7912000-7918000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:7912000-7931200	Weak transcription	Aorta	Aorta
9	chr4:7912600-7914600	Weak transcription	HepG2	liver
10	chr4:7912600-7917000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:7912600-7917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:7912800-7931200	Weak transcription	Gastric	stomach
13	chr4:7913000-7914800	Enhancers	NHLF	lung
14	chr4:7913000-7927600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:7913000-7930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:7913000-7931000	Weak transcription	Fetal Intestine Large	intestine
17	chr4:7913200-7914800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:7913200-7917400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7913200-7918200	Weak transcription	Colonic Mucosa	Colon
20	chr4:7913200-7919400	Weak transcription	Right Atrium	heart
21	chr4:7913200-7919600	Weak transcription	Lung	lung
22	chr4:7913200-7926400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:7913400-7914600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:7913400-7914600	Weak transcription	Ovary	ovary
25	chr4:7913400-7917800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:7913400-7918200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:7913400-7918800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:7913400-7919800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:7913600-7915000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:7913600-7915000	Enhancers	Colon Smooth Muscle	Colon
31	chr4:7913600-7915000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:7913600-7916400	Enhancers	A549	lung
33	chr4:7913600-7918000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:7913600-7926200	Weak transcription	Fetal Brain Female	brain
35	chr4:7913600-7927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:7913600-7930400	Weak transcription	NHEK	skin
37	chr4:7913800-7914600	Genic enhancers	Osteobl	bone
38	chr4:7913800-7915000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:7913800-7915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:7913800-7919600	Weak transcription	Adipose Nuclei	Adipose
41	chr4:7913800-7925600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:7914000-7917000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:7914000-7917200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:7914000-7917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:7914000-7917800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:7914000-7917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:7914000-7917800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:7914000-7918400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:7914000-7919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:7914000-7919400	Weak transcription	Fetal Intestine Small	intestine

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