Variant report

Variant	rs973491
Chromosome Location	chr2:46930776-46930777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46925096..46927639-chr2:46929889..46935400,5	MCF-7	breast:
2	chr2:46930002..46931505-chr2:46938996..46941968,2	K562	blood:
3	chr2:46929305..46931756-chr2:46933052..46934727,2	MCF-7	breast:
4	chr2:46924915..46928636-chr2:46928946..46932522,6	MCF-7	breast:
5	chr2:46930029..46933528-chr2:46976256..46980348,3	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12474054	0.83[AMR][1000 genomes]
rs17035560	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17035565	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17035570	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17035588	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17039203	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28715577	0.83[ASN][1000 genomes]
rs41363950	0.89[ASN][1000 genomes]
rs41413046	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41458449	0.83[ASN][1000 genomes]
rs41518447	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6705737	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6737848	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897529	0.90[JPT][hapmap]
rs990289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46927200-46935800	Weak transcription	Spleen	Spleen
2	chr2:46927400-46931400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:46927400-46932000	Weak transcription	Gastric	stomach
4	chr2:46927400-46932000	Weak transcription	Pancreas	Pancrea
5	chr2:46927400-46933400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:46927400-46933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:46927600-46930800	Weak transcription	Colonic Mucosa	Colon
8	chr2:46927600-46931400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:46927600-46931600	Weak transcription	Stomach Mucosa	stomach
10	chr2:46927600-46932800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:46927800-46931000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:46927800-46931000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:46927800-46940000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:46928000-46931000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:46928000-46931000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:46928000-46931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:46928000-46931800	Weak transcription	Aorta	Aorta
18	chr2:46928000-46931800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:46928000-46943600	Weak transcription	Thymus	Thymus
20	chr2:46928400-46931000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:46928400-46932200	Weak transcription	HSMM	muscle
22	chr2:46928600-46931000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:46928600-46931600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:46928600-46932400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:46928600-46933600	Weak transcription	Brain Substantia Nigra	brain
26	chr2:46928600-46933600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:46928600-46934000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:46928600-46944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:46928800-46931000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:46928800-46931000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:46928800-46931600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:46928800-46932000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:46928800-46932000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:46928800-46932000	Weak transcription	Left Ventricle	heart
35	chr2:46928800-46932200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:46928800-46932400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:46928800-46932400	Weak transcription	HUVEC	blood vessel
38	chr2:46928800-46932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:46928800-46932600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:46928800-46932600	Enhancers	HepG2	liver
41	chr2:46928800-46932800	Weak transcription	HSMMtube	muscle
42	chr2:46928800-46933400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:46928800-46933800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:46928800-46934400	Enhancers	NH-A	brain
45	chr2:46928800-46938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:46928800-46946200	Weak transcription	NHEK	skin
47	chr2:46929000-46940200	Weak transcription	Fetal Stomach	stomach
48	chr2:46929200-46931000	Flanking Active TSS	Osteobl	bone
49	chr2:46929200-46931400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:46929200-46934400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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