Variant report

Variant	rs11764933
Chromosome Location	chr7:97825188-97825189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11762534	0.85[AMR][1000 genomes]
rs11763970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[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];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767962	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11768309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13221758	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17435590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17435847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132276	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]
rs34307903	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34320230	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3801294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6465654	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6465657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6465658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6946915	0.85[AMR][1000 genomes]
rs6951277	0.82[CEU][hapmap]
rs6958572	0.90[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];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6969384	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6977321	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7791463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7804318	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7808528	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs940432	0.85[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
rs11764933	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL
rs11764933	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	chr7:97813800-97825400	Strong transcription	HepG2	liver
10	chr7:97814400-97827400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:97814800-97825200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:97815000-97826200	Strong transcription	Liver	Liver
13	chr7:97815000-97827000	Strong transcription	Fetal Intestine Large	intestine
14	chr7:97815600-97826400	Strong transcription	Primary T cells from cord blood	blood
15	chr7:97815600-97827600	Strong transcription	Fetal Intestine Small	intestine
16	chr7:97815800-97826600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:97815800-97827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:97816000-97839200	Weak transcription	Psoas Muscle	Psoas
19	chr7:97816400-97825200	Strong transcription	Fetal Thymus	thymus
20	chr7:97816400-97827400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:97816600-97839800	Weak transcription	NH-A	brain
22	chr7:97816800-97825200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:97816800-97825800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:97816800-97826600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:97817000-97826200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr7:97817000-97828800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr7:97817200-97826600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:97817400-97827000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:97817600-97826000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:97817800-97826200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:97817800-97826800	Strong transcription	Esophagus	oesophagus
32	chr7:97818200-97825800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:97818200-97827200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr7:97818400-97825400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:97818400-97825800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:97818400-97825800	Strong transcription	Gastric	stomach
37	chr7:97818400-97825800	Strong transcription	Lung	lung
38	chr7:97818400-97825800	Strong transcription	Thymus	Thymus
39	chr7:97818400-97826800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:97818400-97826800	Strong transcription	Pancreas	Pancrea
41	chr7:97818400-97827200	Strong transcription	Left Ventricle	heart
42	chr7:97818600-97825200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:97818600-97827200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:97819000-97826000	Strong transcription	Brain Germinal Matrix	brain
45	chr7:97819200-97826600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:97819200-97826600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr7:97819200-97827000	Strong transcription	Fetal Stomach	stomach
48	chr7:97819200-97834800	Weak transcription	HUVEC	blood vessel
49	chr7:97819400-97827000	Strong transcription	Fetal Brain Female	brain
50	chr7:97819400-97827000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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