Variant report

Variant	rs73088550
Chromosome Location	chr4:6976114-6976115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6975991..6978450-chr4:6986422..6990391,3	MCF-7	breast:
2	chr4:6976052..6976748-chr4:7072785..7073335,2	K562	blood:
3	chr4:6974510..6976295-chr4:6983564..6986014,2	K562	blood:
4	chr4:6918088..6920742-chr4:6973003..6977658,4	MCF-7	breast:
5	chr4:6970136..6972569-chr4:6974039..6977282,3	MCF-7	breast:
6	chr10:75000506..75001314-chr4:6975783..6976516,2	MCF-7	breast:
7	chr4:6973834..6976602-chr4:7024841..7026449,2	K562	blood:
8	chr4:6970235..6972134-chr4:6974556..6976234,2	K562	blood:
9	chr4:6964971..6966612-chr4:6976027..6977681,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10007838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020561	1.00[AMR][1000 genomes]
rs10025944	1.00[AMR][1000 genomes]
rs10026013	1.00[AMR][1000 genomes]
rs13435398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13435488	1.00[AMR][1000 genomes]
rs28412715	1.00[AMR][1000 genomes]
rs28461523	1.00[AMR][1000 genomes]
rs28463590	1.00[AMR][1000 genomes]
rs28546580	1.00[AMR][1000 genomes]
rs28620599	1.00[AMR][1000 genomes]
rs28629411	1.00[AMR][1000 genomes]
rs28631659	1.00[AMR][1000 genomes]
rs28757648	1.00[AMR][1000 genomes]
rs73086431	1.00[AMR][1000 genomes]
rs7666710	1.00[AMR][1000 genomes]
rs9291119	1.00[AMR][1000 genomes]
rs9994021	0.90[AFR][1000 genomes];1.00[AMR][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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965200-6976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:6965400-6976200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
4	chr4:6968000-6987600	Weak transcription	HSMM	muscle
5	chr4:6969800-6985200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:6969800-6986000	Weak transcription	Left Ventricle	heart
7	chr4:6970600-6976800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:6970800-6976200	Weak transcription	Fetal Brain Female	brain
9	chr4:6970800-6985800	Weak transcription	Esophagus	oesophagus
10	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:6971600-6986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:6972000-6986000	Weak transcription	Right Ventricle	heart
13	chr4:6972200-6976200	Weak transcription	Colonic Mucosa	Colon
14	chr4:6972400-6976800	Weak transcription	Gastric	stomach
15	chr4:6972400-6985800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:6972400-6986000	Weak transcription	Ovary	ovary
17	chr4:6972600-6976200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:6972800-6976200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:6972800-6985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:6973000-6976200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:6973600-6976200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:6973600-6976400	Enhancers	Placenta	Placenta
23	chr4:6973800-6976200	Weak transcription	Primary T cells from cord blood	blood
24	chr4:6973800-6976200	Weak transcription	Fetal Heart	heart
25	chr4:6973800-6976200	Enhancers	Fetal Intestine Large	intestine
26	chr4:6973800-6985000	Weak transcription	Spleen	Spleen
27	chr4:6974000-6985400	Weak transcription	HepG2	liver
28	chr4:6974400-6976600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:6974600-6976200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:6974600-6977000	Enhancers	Liver	Liver
31	chr4:6974800-6976800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:6974800-6985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:6975000-6976200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:6975000-6976200	Enhancers	HSMMtube	muscle
35	chr4:6975000-6976400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:6975200-6976200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:6975200-6976600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:6975200-6976600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:6975200-6978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:6975200-6985600	Weak transcription	Fetal Intestine Small	intestine
41	chr4:6975400-6976200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:6975400-6976200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:6975400-6976200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:6975400-6976200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:6975400-6976600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:6975800-6976400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr4:6975800-6976400	Enhancers	Fetal Muscle Leg	muscle
48	chr4:6975800-6976600	Enhancers	Primary B cells from peripheral blood	blood
49	chr4:6975800-6976600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:6975800-6976600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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