Variant report

Variant	rs749027
Chromosome Location	chr2:97203137-97203138
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97202384..97205156-chr2:97301374..97305632,4	K562	blood:
2	chr2:97202384..97205156-chr2:97302029..97304901,3	K562	blood:
3	chr2:96873119..96874915-chr2:97202040..97204570,2	K562	blood:
4	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:
5	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000163121	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1011040	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184209	0.82[ASN][1000 genomes]
rs10194468	0.82[ASN][1000 genomes]
rs12329128	0.84[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs12477963	0.87[TSI][hapmap]
rs12717781	0.88[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12717782	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12992413	0.86[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13007343	0.80[AMR][1000 genomes]
rs13019986	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13029764	0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[ASN][1000 genomes]
rs17685664	0.91[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[ASN][1000 genomes]
rs17685766	0.83[ASN][1000 genomes]
rs2314109	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2464914	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2579502	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579505	0.88[CEU][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2708976	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2708977	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029026	0.88[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs3731938	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs596069	0.85[MEX][hapmap]
rs6576972	0.82[EUR][1000 genomes]
rs6753667	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3341950	chr2:97201450-97203998	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs749027	TMEM127	cis	parietal	SCAN
rs749027	ADRA2B	cis	cerebellum	SCAN
rs749027	LOC285033	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97198400-97203200	Weak transcription	Fetal Brain Male	brain
2	chr2:97202000-97204600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:97202000-97205200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:97202200-97203200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:97202200-97203200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:97202200-97203200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:97202200-97203200	Active TSS	Muscle Satellite Cultured Cells	--
8	chr2:97202200-97203200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:97202200-97203200	Active TSS	Esophagus	oesophagus
10	chr2:97202200-97203200	Bivalent/Poised TSS	HepG2	liver
11	chr2:97202200-97203600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:97202200-97203600	Active TSS	Brain Substantia Nigra	brain
13	chr2:97202200-97203600	Active TSS	NHLF	lung
14	chr2:97202200-97203800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:97202200-97203800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:97202200-97204000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:97202200-97204000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:97202200-97204000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr2:97202200-97204200	Active TSS	Brain Anterior Caudate	brain
20	chr2:97202200-97204400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:97202200-97204600	Active TSS	Primary T cells from cord blood	blood
22	chr2:97202400-97203200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:97202400-97203200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:97202400-97203200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:97202400-97203200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:97202400-97203200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:97202400-97203200	Active TSS	Primary B cells from peripheral blood	blood
28	chr2:97202400-97203200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:97202400-97203200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:97202400-97203200	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:97202400-97203200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:97202400-97203200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:97202400-97203200	Active TSS	Adipose Nuclei	Adipose
34	chr2:97202400-97203200	Active TSS	Liver	Liver
35	chr2:97202400-97203200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
36	chr2:97202400-97203200	Active TSS	Fetal Muscle Leg	muscle
37	chr2:97202400-97203200	Active TSS	Pancreas	Pancrea
38	chr2:97202400-97203200	Active TSS	Psoas Muscle	Psoas
39	chr2:97202400-97203200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr2:97202400-97203200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:97202400-97203200	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr2:97202400-97203200	Active TSS	Stomach Smooth Muscle	stomach
43	chr2:97202400-97203200	Active TSS	Spleen	Spleen
44	chr2:97202400-97203200	Active TSS	Dnd41	blood
45	chr2:97202400-97203200	Active TSS	Hela-S3	cervix
46	chr2:97202400-97203200	Active TSS	K562	blood
47	chr2:97202400-97203200	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:97202400-97203200	Active TSS	NHEK	skin
49	chr2:97202400-97203200	Active TSS	Osteobl	bone
50	chr2:97202400-97203400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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