Variant report

Variant	rs72720325
Chromosome Location	chr8:131002359-131002360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130995016..130997568-chr8:131000713..131003679,2	MCF-7	breast:
2	chr8:130994883..130996522-chr8:131001539..131003623,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10088317	0.80[EUR][1000 genomes]
rs10092658	0.80[EUR][1000 genomes]
rs10111220	0.80[EUR][1000 genomes]
rs1349847	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16904182	0.80[EUR][1000 genomes]
rs16904183	0.80[EUR][1000 genomes]
rs17194407	0.80[EUR][1000 genomes]
rs17194571	0.84[EUR][1000 genomes]
rs17194770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17279655	0.84[EUR][1000 genomes]
rs28520393	1.00[ASN][1000 genomes]
rs28682439	0.80[EUR][1000 genomes]
rs55878330	1.00[ASN][1000 genomes]
rs66523355	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016402	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72718397	0.84[AMR][1000 genomes]
rs72718400	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72720304	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72720337	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720345	1.00[ASN][1000 genomes]
rs72720346	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72720350	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72720351	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72720353	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72720360	1.00[ASN][1000 genomes]
rs72720361	1.00[ASN][1000 genomes]
rs72720362	1.00[ASN][1000 genomes]
rs72720365	1.00[ASN][1000 genomes]
rs7817091	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7837729	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
2	chr8:130996600-131009600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
4	chr8:130996800-131004000	Weak transcription	K562	blood
5	chr8:130996800-131011600	Weak transcription	Left Ventricle	heart
6	chr8:130997000-131004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:130997000-131006800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:130997000-131006800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:130997000-131006800	Weak transcription	Right Atrium	heart
10	chr8:130997000-131007000	Weak transcription	HSMMtube	muscle
11	chr8:130997000-131007600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:130997000-131008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:130997000-131008600	Weak transcription	Osteobl	bone
14	chr8:130997000-131009800	Weak transcription	Fetal Heart	heart
15	chr8:130997600-131007200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:130997800-131004800	Weak transcription	HSMM	muscle
17	chr8:130998400-131006600	Weak transcription	Esophagus	oesophagus
18	chr8:130998400-131006800	Weak transcription	Small Intestine	intestine
19	chr8:130998400-131007000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:130998400-131007400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:130998400-131008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:130998400-131009000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:130998600-131007000	Weak transcription	Hela-S3	cervix
25	chr8:130998600-131009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:130998600-131009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:130998800-131006400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:130999000-131006600	Weak transcription	Brain Angular Gyrus	brain
29	chr8:130999200-131006400	Weak transcription	Gastric	stomach
30	chr8:130999200-131007000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:130999400-131006800	Weak transcription	Pancreas	Pancrea
32	chr8:130999400-131008200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:130999600-131006200	Weak transcription	Adipose Nuclei	Adipose
34	chr8:130999600-131006200	Weak transcription	HMEC	breast
35	chr8:130999600-131007000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:130999600-131008000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:131000000-131003800	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr8:131000000-131004600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:131000200-131002600	Weak transcription	Primary B cells from cord blood	blood
40	chr8:131000200-131006200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:131000400-131002400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:131000400-131006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:131000400-131008400	Weak transcription	Fetal Stomach	stomach
44	chr8:131000600-131003400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:131000600-131005000	Weak transcription	Lung	lung
46	chr8:131000600-131006400	Weak transcription	Fetal Thymus	thymus
47	chr8:131000800-131002400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:131000800-131003600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:131000800-131004200	Weak transcription	Spleen	Spleen
50	chr8:131000800-131004800	Weak transcription	H1 Cell Line	embryonic stem cell

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