Variant report

Variant	rs747633
Chromosome Location	chr7:97859387-97859388
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	NR2F2	chr7:97859370-97859662	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97855900..97859430-chr7:97859536..97863597,5	K562	blood:
2	chr7:97852038..97854221-chr7:97858720..97861626,2	K562	blood:
3	chr7:97736018..97736542-chr7:97859141..97859647,2	K562	blood:

Variant related genes	Relation type
TECPR1	TF binding region
ENSG00000164715	Chromatin interaction
ENSG00000205356	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10953245	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953248	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953255	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1132971	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11760930	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11761158	0.81[ASN][1000 genomes]
rs11766808	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11772293	0.81[ASN][1000 genomes]
rs12704977	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12704982	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12704983	0.81[ASN][1000 genomes]
rs12728	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12873	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13237878	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13238610	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13246725	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13246942	0.81[EUR][1000 genomes]
rs17436977	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291747	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34129434	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34304553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34534766	0.81[ASN][1000 genomes]
rs34695842	0.81[EUR][1000 genomes]
rs34776142	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34789614	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34817002	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34830366	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35216698	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35527492	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35941058	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35944487	0.81[ASN][1000 genomes]
rs3816944	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075057	0.81[EUR][1000 genomes]
rs56229643	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62479822	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62479823	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62479853	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465661	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6465662	0.80[ASN][1000 genomes]
rs6465663	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6465664	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66548074	0.81[ASN][1000 genomes]
rs67420939	0.82[EUR][1000 genomes]
rs6947208	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6947340	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6949718	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6950994	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6955259	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967457	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6968144	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968193	0.81[ASN][1000 genomes]
rs6969731	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6970801	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6970990	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6975156	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73147342	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73151177	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736753	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs736754	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7781916	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7789440	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7790229	0.81[ASN][1000 genomes]
rs7794187	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794612	0.80[ASN][1000 genomes]
rs7796611	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7796762	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7802382	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7802560	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
13	nsv888763	chr7:97829492-97866291	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv1812914	chr7:97846435-97860164	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv1849580	chr7:97846435-97860164	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv1845627	chr7:97851109-97860507	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv525934	chr7:97853184-97866291	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs747633	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL
rs747633	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97841200-97867800	Weak transcription	HUVEC	blood vessel
2	chr7:97841200-97880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:97841400-97866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:97841400-97879400	Weak transcription	Fetal Brain Male	brain
5	chr7:97841400-97880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:97841800-97867400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:97842200-97868400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:97845200-97877400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:97848000-97877600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:97848000-97880600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:97848600-97873200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:97849000-97864600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:97849400-97863400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:97850000-97871800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:97850000-97878000	Strong transcription	Fetal Stomach	stomach
16	chr7:97850200-97874400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:97850200-97875400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:97850400-97872800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr7:97850400-97878600	Weak transcription	GM12878-XiMat	blood
20	chr7:97850600-97864200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:97850600-97872800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:97850600-97874400	Strong transcription	Adipose Nuclei	Adipose
23	chr7:97850600-97875600	Strong transcription	Fetal Brain Female	brain
24	chr7:97850800-97860600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:97850800-97863000	Strong transcription	Ovary	ovary
26	chr7:97850800-97863600	Strong transcription	Lung	lung
27	chr7:97850800-97864200	Strong transcription	Fetal Intestine Small	intestine
28	chr7:97850800-97875400	Strong transcription	Thymus	Thymus
29	chr7:97850800-97877400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:97851000-97863400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:97851000-97863400	Strong transcription	Right Ventricle	heart
32	chr7:97851000-97863800	Strong transcription	Brain Hippocampus Middle	brain
33	chr7:97851000-97864600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr7:97851600-97862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:97851600-97867600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:97851800-97867600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:97852000-97878000	Weak transcription	Small Intestine	intestine
38	chr7:97852400-97859800	Weak transcription	Fetal Thymus	thymus
39	chr7:97852600-97875600	Strong transcription	Primary T cells from cord blood	blood
40	chr7:97853200-97880000	Weak transcription	A549	lung
41	chr7:97853400-97880200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:97853800-97860600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:97854000-97869800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:97854200-97865200	Weak transcription	Primary B cells from cord blood	blood
45	chr7:97854400-97870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:97855000-97862400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:97855800-97860400	Weak transcription	NHLF	lung
48	chr7:97856000-97863200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:97856000-97866800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:97856200-97867400	Weak transcription	Fetal Lung	lung

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