Variant report

Variant	rs73247096
Chromosome Location	chr5:118609941-118609942
allele	A/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	chr5:118606692..118610066-chr5:118616114..118619938,5	K562	blood:
2	chr5:118609309..118611605-chr5:118653973..118656263,2	K562	blood:
3	chr5:118574634..118576211-chr5:118609734..118611582,2	MCF-7	breast:
4	chr5:118607071..118610754-chr5:118620607..118623123,4	K562	blood:
5	chr5:118602852..118606444-chr5:118607322..118611443,10	MCF-7	breast:
6	chr5:118608930..118611747-chr5:118623733..118626239,2	MCF-7	breast:
7	chr5:118608976..118610924-chr5:118611677..118614911,3	K562	blood:
8	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:
9	chr5:118609066..118610745-chr5:118637168..118638991,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1422012	0.86[ASN][1000 genomes]
rs1504979	0.86[ASN][1000 genomes]
rs17145063	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17145066	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6865343	0.80[ASN][1000 genomes]
rs6877317	0.86[ASN][1000 genomes]
rs6878373	0.86[ASN][1000 genomes]
rs6884614	0.80[ASN][1000 genomes]
rs6884625	0.80[ASN][1000 genomes]
rs73247101	0.90[AFR][1000 genomes]
rs73248903	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs888771	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:118605400-118610000	Weak transcription	Liver	Liver
4	chr5:118605400-118610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:118605400-118610400	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:118605400-118611200	Weak transcription	Lung	lung
7	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
10	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
11	chr5:118606000-118610000	Weak transcription	NHLF	lung
12	chr5:118606000-118610200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
14	chr5:118606400-118610200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr5:118606600-118612000	Enhancers	Pancreas	Pancrea
16	chr5:118606800-118610400	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr5:118606800-118610600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr5:118606800-118610600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:118606800-118611200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr5:118606800-118611400	Flanking Active TSS	GM12878-XiMat	blood
21	chr5:118606800-118612000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:118606800-118614600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:118607000-118610000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:118607000-118610400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr5:118607000-118610600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:118607000-118611200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:118607000-118612400	Enhancers	Small Intestine	intestine
28	chr5:118607200-118610600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:118607400-118610200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:118607400-118612400	Enhancers	Placenta	Placenta
31	chr5:118607600-118610000	Weak transcription	Right Atrium	heart
32	chr5:118607800-118610600	Genic enhancers	K562	blood
33	chr5:118607800-118611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:118608400-118610200	Enhancers	Right Ventricle	heart
35	chr5:118608400-118610600	Enhancers	Fetal Muscle Leg	muscle
36	chr5:118608400-118611200	Enhancers	A549	lung
37	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:118608600-118610000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr5:118608600-118610200	Weak transcription	Spleen	Spleen
41	chr5:118608800-118610000	Enhancers	HMEC	breast
42	chr5:118608800-118610600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:118608800-118610600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:118608800-118610600	Enhancers	Aorta	Aorta
45	chr5:118608800-118610600	Enhancers	HepG2	liver
46	chr5:118608800-118610800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:118608800-118610800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr5:118608800-118611000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:118608800-118611200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr5:118608800-118611200	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links