Variant report

Variant	rs2299421
Chromosome Location	chr7:106946195-106946196
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106943945..106946694-chr7:106956421..106959648,3	K562	blood:
2	chr7:106944112..106947438-chr7:106948348..106951754,4	K562	blood:
3	chr7:106943945..106946377-chr7:106956421..106958965,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1015411	0.95[CEU][hapmap]
rs10234355	0.86[CEU][hapmap]
rs10248717	0.84[EUR][1000 genomes]
rs12112877	0.96[EUR][1000 genomes]
rs12667527	0.95[CEU][hapmap]
rs12673675	0.96[CEU][hapmap]
rs17153981	0.82[CEU][hapmap]
rs2107762	0.89[ASN][1000 genomes]
rs2214679	0.89[ASN][1000 genomes]
rs2395868	0.82[CEU][hapmap]
rs2520241	0.95[CEU][hapmap]
rs2520242	0.95[CEU][hapmap]
rs2520243	0.91[CEU][hapmap]
rs2520245	0.91[CEU][hapmap]
rs2712201	0.95[CEU][hapmap]
rs3094383	0.95[CEU][hapmap]
rs4727675	0.83[ASN][1000 genomes]
rs4727680	0.95[CEU][hapmap]
rs4727681	0.95[CEU][hapmap]
rs4730245	0.95[CEU][hapmap]
rs58391518	0.93[EUR][1000 genomes]
rs62482502	0.94[EUR][1000 genomes]
rs6466164	0.90[ASN][1000 genomes]
rs7791955	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs986994	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1016691	chr7:106880953-106960515	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1015615	chr7:106888529-106962332	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1024903	chr7:106897237-106965091	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1034707	chr7:106897237-106966215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1033064	chr7:106903099-106949640	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1797664	chr7:106930295-106964433	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2299421	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:106888800-106946200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:106904800-106959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:106910200-106946400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:106915200-106953400	Weak transcription	Left Ventricle	heart
9	chr7:106918600-106963800	Weak transcription	HSMM	muscle
10	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:106925600-106959800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:106928000-106958800	Weak transcription	HepG2	liver
14	chr7:106928000-106972600	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:106931400-106962800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:106932200-106946400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:106932200-106967400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:106932400-106955600	Weak transcription	Stomach Mucosa	stomach
19	chr7:106932400-106956200	Weak transcription	HMEC	breast
20	chr7:106932600-106953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:106934200-106947400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:106934200-106967400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:106934200-106968600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:106934200-106971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:106934200-106973000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:106934400-106967200	Weak transcription	Fetal Stomach	stomach
27	chr7:106934400-106971400	Weak transcription	Ovary	ovary
28	chr7:106934800-106962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:106935200-106962400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:106935400-106964000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:106937400-106952800	Weak transcription	NH-A	brain
32	chr7:106938400-106960000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:106939000-106962400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:106943000-106973000	Weak transcription	Thymus	Thymus
35	chr7:106943200-106950400	Weak transcription	Fetal Heart	heart
36	chr7:106944800-106948000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:106945400-106946400	Strong transcription	K562	blood
38	chr7:106945400-106947600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:106945600-106946400	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr7:106945600-106946400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:106945600-106946400	Strong transcription	Aorta	Aorta
42	chr7:106945600-106946400	Strong transcription	Fetal Intestine Large	intestine
43	chr7:106945600-106946400	Strong transcription	Pancreas	Pancrea
44	chr7:106945600-106946800	Strong transcription	Primary T cells from cord blood	blood
45	chr7:106945600-106953000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:106945800-106946200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:106945800-106946400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:106945800-106946400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:106945800-106946400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:106945800-106960200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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