Variant report

Variant	rs72811629
Chromosome Location	chr2:97519901-97519902
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
2	chr2:97507472..97510460-chr2:97518442..97520566,4	K562	blood:
3	chr2:97514266..97515843-chr2:97517812..97519999,2	MCF-7	breast:
4	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:
5	chr2:97514683..97521467-chr2:97522142..97527634,7	K562	blood:
6	chr2:97513990..97521005-chr2:97521688..97524423,6	MCF-7	breast:
7	chr2:97502679..97504897-chr2:97518482..97522154,3	MCF-7	breast:
8	chr2:97507888..97510281-chr2:97517648..97520566,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000163126	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10203346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10439526	0.90[EUR][1000 genomes]
rs11897786	0.81[EUR][1000 genomes]
rs12172	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1320146	0.93[EUR][1000 genomes]
rs13419073	0.91[EUR][1000 genomes]
rs17119598	0.83[EUR][1000 genomes]
rs2276654	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4077343	0.84[AMR][1000 genomes]
rs58147284	0.91[EUR][1000 genomes]
rs59244622	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62152793	0.83[EUR][1000 genomes]
rs62152794	0.81[EUR][1000 genomes]
rs62152834	0.90[EUR][1000 genomes]
rs62152860	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62152863	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152864	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576986	0.93[EUR][1000 genomes]
rs6576987	0.93[EUR][1000 genomes]
rs6576989	0.84[EUR][1000 genomes]
rs6753987	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811623	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72811627	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9973492	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97499200-97522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:97499600-97522800	Weak transcription	HSMM	muscle
3	chr2:97501000-97520600	Weak transcription	Fetal Brain Male	brain
4	chr2:97501200-97520600	Weak transcription	Hela-S3	cervix
5	chr2:97503600-97522600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:97505000-97520400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:97505600-97521800	Strong transcription	Fetal Stomach	stomach
8	chr2:97505600-97522400	Weak transcription	NH-A	brain
9	chr2:97505800-97520200	Strong transcription	Fetal Intestine Small	intestine
10	chr2:97505800-97520200	Weak transcription	HMEC	breast
11	chr2:97505800-97522400	Weak transcription	Stomach Mucosa	stomach
12	chr2:97506200-97520400	Strong transcription	Thymus	Thymus
13	chr2:97508800-97520000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:97509800-97520600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:97510000-97521000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:97510200-97521000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:97510600-97522600	Weak transcription	Right Atrium	heart
18	chr2:97511200-97520400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:97511600-97520400	Strong transcription	Fetal Intestine Large	intestine
20	chr2:97511800-97520200	Strong transcription	Brain Cingulate Gyrus	brain
21	chr2:97511800-97520200	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr2:97511800-97520200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:97511800-97520400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:97511800-97520400	Strong transcription	Fetal Thymus	thymus
25	chr2:97511800-97520800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:97511800-97520800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:97511800-97520800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:97512000-97520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:97512000-97520200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:97512000-97520200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:97512000-97520400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:97512000-97520400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:97512000-97520400	Strong transcription	Brain Substantia Nigra	brain
34	chr2:97512000-97520400	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:97512000-97520400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:97512200-97520400	Strong transcription	Adipose Nuclei	Adipose
37	chr2:97512400-97520200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:97512400-97520400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:97512400-97520400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:97512600-97520400	Strong transcription	Dnd41	blood
41	chr2:97512800-97520200	Strong transcription	Osteobl	bone
42	chr2:97512800-97520400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:97513000-97520400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:97513200-97520400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:97513200-97520400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:97513200-97520400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:97513400-97520400	Strong transcription	Rectal Smooth Muscle	rectum
48	chr2:97514000-97522400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:97514200-97520600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:97514800-97520200	Strong transcription	Liver	Liver

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