Variant report

Variant	rs13237878
Chromosome Location	chr7:97878504-97878505
allele	A/T
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	chr7:97878361-97878995	HUVEC	blood vessel:	n/a	n/a
2	ELF1	chr7:97878398-97878709	K562	blood:	n/a	chr7:97878533-97878546 chr7:97878610-97878621 chr7:97878560-97878571 chr7:97878567-97878580
3	SPI1	chr7:97878320-97878901	HL-60	blood:	n/a	chr7:97878612-97878621
4	GABPA	chr7:97878381-97878734	K562	blood:	n/a	n/a
5	POLR2A	chr7:97878231-97878878	HUVEC	blood vessel:	n/a	n/a
6	TAF1	chr7:97878401-97878782	PFSK-1	brain:	n/a	n/a
7	SPI1	chr7:97878427-97878804	HL-60	blood:	n/a	chr7:97878612-97878621
8	SPI1	chr7:97878487-97878678	GM12891	blood:	n/a	chr7:97878612-97878621
9	GABPA	chr7:97878444-97878800	A549	lung:	n/a	n/a
10	GABPA	chr7:97878369-97878872	K562	blood:	n/a	n/a
11	POLR2A	chr7:97878424-97878995	HUVEC	blood vessel:	n/a	n/a
12	GABPA	chr7:97878488-97878725	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:97878277-97879152	HUVEC	blood vessel:	n/a	n/a
14	GABPA	chr7:97878400-97878922	HL-60	blood:	n/a	n/a
15	GABPA	chr7:97878440-97878798	A549	lung:	n/a	n/a
16	POLR2A	chr7:97878335-97878816	PFSK-1	brain:	n/a	n/a
17	GABPA	chr7:97878267-97878946	HL-60	blood:	n/a	n/a
18	GABPA	chr7:97878367-97878886	MCF-7	breast:	n/a	n/a
19	SPI1	chr7:97878448-97878699	K562	blood:	n/a	chr7:97878612-97878621
20	POLR2A	chr7:97878354-97878783	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
BRI3	TF binding region
TECPR1	TF binding region

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

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

rs_ID	r²[population]
rs10953245	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953248	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953255	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1132971	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11760930	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11761158	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11766808	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11772293	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12673586	0.84[EUR][1000 genomes]
rs12704977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12704982	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12704983	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12728	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12873	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13232181	0.85[EUR][1000 genomes]
rs13238610	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13246725	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13246942	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17436977	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107716	0.84[EUR][1000 genomes]
rs2291747	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2394852	0.84[EUR][1000 genomes]
rs34129434	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34304553	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34534766	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34695842	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34776142	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34789614	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34817002	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34830366	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35216698	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35527492	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35941058	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35944487	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075057	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56229643	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62479822	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62479823	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62479853	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465661	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6465662	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6465663	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6465664	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6465665	0.85[EUR][1000 genomes]
rs6465666	0.85[EUR][1000 genomes]
rs66548074	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6947208	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947340	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6949718	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6950994	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6955259	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967457	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968144	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968193	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6969731	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6970801	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6970990	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6975156	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73147342	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73151177	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs736753	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs736754	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs747633	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7781916	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7785612	0.82[EUR][1000 genomes]
rs7789440	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7790229	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7791321	0.84[EUR][1000 genomes]
rs7794187	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794612	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7796611	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7796762	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7802382	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7802541	0.82[EUR][1000 genomes]
rs7802560	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7802794	0.86[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
rs13237878	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL
rs13237878	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 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	chr7:97848000-97880600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:97850400-97878600	Weak transcription	GM12878-XiMat	blood
6	chr7:97853200-97880000	Weak transcription	A549	lung
7	chr7:97853400-97880200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:97857000-97879000	Strong transcription	Brain Germinal Matrix	brain
9	chr7:97858200-97879000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:97859200-97880200	Weak transcription	Psoas Muscle	Psoas
11	chr7:97864600-97880200	Weak transcription	NHDF-Ad	bronchial
12	chr7:97864600-97880200	Weak transcription	NHEK	skin
13	chr7:97865000-97878600	Strong transcription	Fetal Intestine Small	intestine
14	chr7:97865200-97880200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:97865400-97878600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:97866000-97880400	Weak transcription	Fetal Kidney	kidney
17	chr7:97868200-97880200	Weak transcription	HSMM	muscle
18	chr7:97868600-97880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:97868800-97880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:97868800-97880200	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:97869000-97880600	Weak transcription	NH-A	brain
22	chr7:97870400-97880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:97870400-97880000	Weak transcription	Hela-S3	cervix
24	chr7:97870800-97880200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:97871200-97880000	Weak transcription	Fetal Lung	lung
26	chr7:97871400-97880000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:97871600-97879600	Weak transcription	Fetal Intestine Large	intestine
28	chr7:97871600-97880200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:97871800-97880400	Weak transcription	Osteobl	bone
30	chr7:97872800-97878800	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr7:97873800-97880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:97874000-97879800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:97874000-97880000	Weak transcription	Brain Angular Gyrus	brain
34	chr7:97874000-97880000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:97874000-97880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:97874000-97880200	Weak transcription	HSMMtube	muscle
37	chr7:97874000-97880800	Weak transcription	Ovary	ovary
38	chr7:97874200-97879200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:97874200-97879800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:97874200-97880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:97874200-97881000	Weak transcription	Aorta	Aorta
42	chr7:97874400-97880000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:97874400-97880200	Weak transcription	Brain Substantia Nigra	brain
44	chr7:97874400-97880200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:97874600-97878800	Weak transcription	Brain Anterior Caudate	brain
46	chr7:97874600-97880200	Weak transcription	Liver	Liver
47	chr7:97875000-97880000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:97875000-97880000	Weak transcription	Colonic Mucosa	Colon
49	chr7:97875400-97878600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:97875400-97879600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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