Variant report

Variant	rs73227402
Chromosome Location	chr5:112315031-112315032
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112311145..112314018-chr5:112314616..112318663,4	MCF-7	breast:
2	chr5:112202949..112204762-chr5:112314290..112317071,2	MCF-7	breast:
3	chr5:112314967..112316721-chr5:112320064..112321831,2	MCF-7	breast:
4	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:
5	chr5:112253961..112259306-chr5:112310933..112315767,8	K562	blood:
6	chr5:112313991..112316155-chr5:112326453..112328052,2	K562	blood:
7	chr5:112255914..112262078-chr5:112308752..112315375,16	MCF-7	breast:
8	chr18:31255111..31255945-chr5:112314501..112315468,2	MCF-7	breast:
9	chr5:112314675..112316382-chr5:112352070..112354061,2	K562	blood:
10	chr5:112312383..112314551-chr5:112314826..112319334,4	MCF-7	breast:
11	chr5:112312686..112316155-chr5:112325860..112328052,3	K562	blood:
12	chr5:112296171..112299064-chr5:112312877..112315865,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17135245	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59624235	1.00[AMR][1000 genomes]
rs6883462	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs726038	1.00[AMR][1000 genomes]
rs73221991	1.00[AMR][1000 genomes]
rs73223916	1.00[AMR][1000 genomes]
rs73229007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235110	1.00[AMR][1000 genomes]
rs73235120	1.00[AMR][1000 genomes]
rs73235125	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112311600-112315200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:112311800-112315200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:112312000-112315200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112312000-112315200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:112312000-112315400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:112312000-112315600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:112312000-112316000	Active TSS	K562	blood
8	chr5:112312200-112316600	Active TSS	GM12878-XiMat	blood
9	chr5:112312600-112315600	Active TSS	Right Atrium	heart
10	chr5:112313000-112316400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:112313200-112315400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112313200-112315800	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr5:112313200-112329000	Weak transcription	Spleen	Spleen
14	chr5:112313600-112316400	Enhancers	Fetal Brain Male	brain
15	chr5:112313800-112315400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr5:112313800-112315600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:112313800-112315800	Flanking Active TSS	Dnd41	blood
18	chr5:112313800-112337600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:112314000-112315600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr5:112314000-112315600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:112314000-112315800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:112314000-112315800	Flanking Active TSS	HUVEC	blood vessel
23	chr5:112314000-112316600	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:112314000-112317600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:112314000-112317800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:112314000-112318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:112314000-112320000	Weak transcription	Pancreas	Pancrea
28	chr5:112314000-112329000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:112314000-112335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:112314000-112337200	Weak transcription	Lung	lung
31	chr5:112314000-112338200	Weak transcription	Gastric	stomach
32	chr5:112314200-112315200	Weak transcription	Brain Angular Gyrus	brain
33	chr5:112314200-112315200	Weak transcription	HSMM	muscle
34	chr5:112314200-112315400	Weak transcription	Ovary	ovary
35	chr5:112314200-112315400	Active TSS	HMEC	breast
36	chr5:112314200-112315600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr5:112314200-112315600	Enhancers	Fetal Heart	heart
38	chr5:112314200-112315600	Enhancers	Hela-S3	cervix
39	chr5:112314200-112315800	Enhancers	Colon Smooth Muscle	Colon
40	chr5:112314200-112316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:112314200-112316200	Enhancers	Adipose Nuclei	Adipose
42	chr5:112314200-112316400	Weak transcription	Psoas Muscle	Psoas
43	chr5:112314200-112316600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:112314200-112316600	Weak transcription	Left Ventricle	heart
45	chr5:112314200-112316800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:112314200-112316800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:112314200-112316800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:112314200-112316800	Weak transcription	Placenta	Placenta
49	chr5:112314200-112317000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:112314200-112317600	Weak transcription	Right Ventricle	heart

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