Variant report

Variant	rs772159
Chromosome Location	chr2:97036439-97036440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97000958..97004654-chr2:97035540..97037195,3	K562	blood:
2	chr2:97002031..97004654-chr2:97035595..97037195,2	K562	blood:
3	chr2:97030971..97033266-chr2:97034286..97036775,3	K562	blood:
4	chr2:97034964..97037196-chr8:92052828..92054758,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction
ENSG00000121152	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1081717	0.82[EUR][1000 genomes]
rs582014	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs583705	0.86[EUR][1000 genomes]
rs596069	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs597420	0.84[EUR][1000 genomes]
rs611943	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs631746	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs655101	0.81[EUR][1000 genomes]
rs674920	0.92[EUR][1000 genomes]
rs675239	0.82[EUR][1000 genomes]
rs676007	0.82[EUR][1000 genomes]
rs687950	0.86[EUR][1000 genomes]
rs772156	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772160	0.96[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs772161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs772167	0.82[EUR][1000 genomes]
rs772173	0.96[CEU][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes]
rs772174	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs772177	0.87[CEU][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs772159	ITPRIPL1	cis	lung	GTEx
rs772159	ITPRIPL1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97002200-97037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97002800-97040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:97004000-97040400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97004200-97040400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:97006200-97041000	Strong transcription	Dnd41	blood
6	chr2:97006600-97040200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:97006600-97040400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:97006800-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:97006800-97040600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:97006800-97040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:97007000-97040600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:97007200-97040000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:97007200-97040200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:97007200-97040400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:97007200-97041600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:97007400-97040200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:97007400-97040400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:97007400-97040600	Strong transcription	Thymus	Thymus
19	chr2:97011200-97038000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:97011400-97038400	Strong transcription	GM12878-XiMat	blood
21	chr2:97012400-97037600	Weak transcription	Colonic Mucosa	Colon
22	chr2:97012600-97040000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:97013800-97040000	Weak transcription	Esophagus	oesophagus
24	chr2:97014800-97040600	Strong transcription	A549	lung
25	chr2:97015000-97039600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:97017000-97040000	Weak transcription	Fetal Kidney	kidney
27	chr2:97019200-97040600	Strong transcription	Fetal Thymus	thymus
28	chr2:97019200-97042000	Weak transcription	Spleen	Spleen
29	chr2:97020000-97039200	Weak transcription	Fetal Heart	heart
30	chr2:97020000-97041400	Weak transcription	HSMM	muscle
31	chr2:97020200-97037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:97024400-97040000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:97024600-97040000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr2:97024800-97036800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:97024800-97039800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:97024800-97039800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:97024800-97040000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:97025000-97037400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:97025600-97039600	Weak transcription	Pancreas	Pancrea
40	chr2:97026400-97038000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:97026400-97038200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:97026600-97037800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:97026800-97037800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:97028000-97037400	Strong transcription	Osteobl	bone
45	chr2:97028000-97040000	Strong transcription	HepG2	liver
46	chr2:97029000-97038600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:97029000-97041000	Weak transcription	Primary T cells from cord blood	blood
48	chr2:97029600-97036800	Strong transcription	HUVEC	blood vessel
49	chr2:97030000-97040000	Strong transcription	NHEK	skin
50	chr2:97030400-97036600	Strong transcription	Hela-S3	cervix

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