Variant report

Variant	rs34789614
Chromosome Location	chr7:97874625-97874626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:97874577-97874756	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr7:97874504-97875526	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:97874502-97874688	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97839660..97842920-chr7:97872632..97874833,3	K562	blood:

Variant related genes	Relation type
TECPR1	TF binding region
ENSG00000180535	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10953245	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953248	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953255	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1132971	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11760930	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11761158	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766808	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11772293	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673586	0.83[EUR][1000 genomes]
rs12704977	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12704982	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12704983	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12728	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12873	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13232181	0.84[EUR][1000 genomes]
rs13237878	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13238610	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13246725	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13246942	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17436977	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107716	0.83[EUR][1000 genomes]
rs2291747	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2394852	0.83[EUR][1000 genomes]
rs34129434	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34304553	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34534766	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34695842	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34776142	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34817002	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34830366	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35216698	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35527492	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35941058	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35944487	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3816944	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075057	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56229643	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62479822	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62479823	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62479853	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465661	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6465662	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465663	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465664	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465665	0.84[EUR][1000 genomes]
rs6465666	0.84[EUR][1000 genomes]
rs66548074	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947208	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947340	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6949718	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6950994	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6955259	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967457	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968144	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968193	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6969731	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970801	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970990	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6975156	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73147342	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73151177	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs736753	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs736754	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs747633	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7781916	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7785612	0.81[EUR][1000 genomes]
rs7789440	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7790229	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7791321	0.83[EUR][1000 genomes]
rs7794187	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794612	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7796611	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7796762	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7802382	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7802541	0.81[EUR][1000 genomes]
rs7802560	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7802794	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
9	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
10	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
11	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
12	esv1800947	chr7:97857675-97889672	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
14	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34789614	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL
rs34789614	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97841200-97880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:97841400-97879400	Weak transcription	Fetal Brain Male	brain
3	chr7:97841400-97880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:97845200-97877400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:97848000-97877600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:97848000-97880600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:97850000-97878000	Strong transcription	Fetal Stomach	stomach
8	chr7:97850200-97875400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:97850400-97878600	Weak transcription	GM12878-XiMat	blood
10	chr7:97850600-97875600	Strong transcription	Fetal Brain Female	brain
11	chr7:97850800-97875400	Strong transcription	Thymus	Thymus
12	chr7:97850800-97877400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:97852000-97878000	Weak transcription	Small Intestine	intestine
14	chr7:97852600-97875600	Strong transcription	Primary T cells from cord blood	blood
15	chr7:97853200-97880000	Weak transcription	A549	lung
16	chr7:97853400-97880200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:97857000-97879000	Strong transcription	Brain Germinal Matrix	brain
18	chr7:97858200-97878200	Weak transcription	Stomach Mucosa	stomach
19	chr7:97858200-97879000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:97859200-97880200	Weak transcription	Psoas Muscle	Psoas
21	chr7:97859800-97878200	Weak transcription	HepG2	liver
22	chr7:97860200-97875600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:97860200-97878400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:97861800-97875000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:97862000-97877800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:97863000-97876800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:97864600-97880200	Weak transcription	NHDF-Ad	bronchial
28	chr7:97864600-97880200	Weak transcription	NHEK	skin
29	chr7:97865000-97875400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:97865000-97875600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr7:97865000-97878600	Strong transcription	Fetal Intestine Small	intestine
32	chr7:97865200-97880200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:97865400-97875600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:97865400-97878600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:97865600-97875600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:97865600-97875600	Strong transcription	Brain Hippocampus Middle	brain
37	chr7:97866000-97880400	Weak transcription	Fetal Kidney	kidney
38	chr7:97867200-97877600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:97867600-97877600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:97868200-97880200	Weak transcription	HSMM	muscle
41	chr7:97868600-97875200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:97868600-97876800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:97868600-97880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:97868800-97880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:97868800-97880200	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:97869000-97880600	Weak transcription	NH-A	brain
47	chr7:97869800-97878400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:97870400-97875600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr7:97870400-97880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:97870400-97880000	Weak transcription	Hela-S3	cervix

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