Variant report

Variant	rs2132276
Chromosome Location	chr7:97826340-97826341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97826253..97828518-chr7:97833038..97835255,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10242903	0.82[CEU][hapmap]
rs10270222	0.82[CEU][hapmap]
rs11762534	0.87[AMR][1000 genomes]
rs11763970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767962	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12670686	0.82[AMR][1000 genomes]
rs12674083	0.82[AMR][1000 genomes]
rs13221758	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1495525	0.82[CEU][hapmap]
rs17435590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17435847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34307903	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34320230	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465654	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946915	0.87[AMR][1000 genomes]
rs6951277	0.86[CEU][hapmap]
rs6958572	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6965016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6969384	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6977321	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7791463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804318	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808528	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs940432	0.89[CEU][hapmap]
rs951988	0.82[CEU][hapmap]

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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2132276	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL
rs2132276	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
3	chr7:97789200-97829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:97808400-97833600	Weak transcription	Stomach Mucosa	stomach
6	chr7:97808600-97839800	Weak transcription	Right Atrium	heart
7	chr7:97812000-97841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:97812800-97826800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:97814400-97827400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:97815000-97827000	Strong transcription	Fetal Intestine Large	intestine
11	chr7:97815600-97826400	Strong transcription	Primary T cells from cord blood	blood
12	chr7:97815600-97827600	Strong transcription	Fetal Intestine Small	intestine
13	chr7:97815800-97826600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:97815800-97827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:97816000-97839200	Weak transcription	Psoas Muscle	Psoas
16	chr7:97816400-97827400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:97816600-97839800	Weak transcription	NH-A	brain
18	chr7:97816800-97826600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:97817000-97828800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr7:97817200-97826600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr7:97817400-97827000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr7:97817800-97826800	Strong transcription	Esophagus	oesophagus
23	chr7:97818200-97827200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr7:97818400-97826800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:97818400-97826800	Strong transcription	Pancreas	Pancrea
26	chr7:97818400-97827200	Strong transcription	Left Ventricle	heart
27	chr7:97818600-97827200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:97819200-97826600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:97819200-97826600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:97819200-97827000	Strong transcription	Fetal Stomach	stomach
31	chr7:97819200-97834800	Weak transcription	HUVEC	blood vessel
32	chr7:97819400-97827000	Strong transcription	Fetal Brain Female	brain
33	chr7:97819400-97827000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:97819800-97826800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:97820000-97826800	Strong transcription	Adipose Nuclei	Adipose
36	chr7:97820000-97827000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:97820000-97827000	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:97820000-97827000	Strong transcription	Dnd41	blood
39	chr7:97820200-97827000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:97820600-97830000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:97821000-97826800	Strong transcription	Ovary	ovary
42	chr7:97821000-97827000	Strong transcription	Primary B cells from cord blood	blood
43	chr7:97821000-97827800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:97822200-97829600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:97822400-97841000	Weak transcription	K562	blood
46	chr7:97822600-97831200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:97822800-97829400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:97822800-97829600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:97822800-97837600	Weak transcription	Fetal Kidney	kidney
50	chr7:97823000-97828400	Weak transcription	GM12878-XiMat	blood

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