Variant report

Variant	rs2291747
Chromosome Location	chr7:97853795-97853796
allele	A/C
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	MAX	chr7:97853752-97853921	K562	blood:	n/a	chr7:97853900-97853909 chr7:97853847-97853856
2	ZNF263	chr7:97853676-97854111	HEK293-T-REx	kidney:	n/a	chr7:97853950-97853959

No.	Distal block	Cell Line	Cell type
1	chr7:97851992..97854043-chr7:98027877..98030619,2	K562	blood:
2	chr7:97852333..97858295-chr7:97859641..97865309,7	MCF-7	breast:
3	chr7:97852038..97854221-chr7:97858720..97861626,2	K562	blood:
4	chr7:97845652..97847962-chr7:97851352..97854034,2	MCF-7	breast:

Variant related genes	Relation type
TECPR1	TF binding region
ENSG00000006453	Chromatin interaction
ENSG00000205356	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1076272	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs10953245	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953248	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953255	0.80[ASN][1000 genomes]
rs10953256	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs10953257	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs1132971	0.88[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs11760930	0.82[ASN][1000 genomes]
rs11761158	0.80[ASN][1000 genomes]
rs11766808	0.82[ASN][1000 genomes]
rs11771397	0.85[CEU][hapmap]
rs11772293	0.80[ASN][1000 genomes]
rs11984183	0.82[CEU][hapmap]
rs12704977	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12704982	0.80[ASN][1000 genomes]
rs12704983	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs12728	0.88[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs12873	0.88[CEU][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs13232181	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs13237878	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13238610	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13246725	0.82[ASN][1000 genomes]
rs1468338	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs17436977	0.92[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859482	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2107716	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs2270604	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs2286074	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs2394854	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs34129434	0.80[ASN][1000 genomes]
rs34304553	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34534766	0.80[ASN][1000 genomes]
rs34776142	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34789614	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34817002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34830366	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35216698	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35527492	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35941058	0.80[ASN][1000 genomes]
rs35944487	0.80[ASN][1000 genomes]
rs3779193	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs3779194	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs3801254	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs3801255	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs3801256	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs3801263	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs3801264	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs3816944	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823740	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs4727388	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs4729421	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs56229643	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62479822	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62479823	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62479853	0.82[ASN][1000 genomes]
rs6465661	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6465663	0.80[ASN][1000 genomes]
rs6465664	0.89[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs6465665	0.88[CEU][hapmap];0.80[CHB][hapmap]
rs6465666	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs6465667	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs6465672	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs6465675	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs6465680	0.96[CEU][hapmap];0.85[JPT][hapmap]
rs6465682	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs66548074	0.80[ASN][1000 genomes]
rs67420939	0.83[EUR][1000 genomes]
rs6944262	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs6945554	0.88[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs6947208	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947340	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6948540	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs6949718	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs6950994	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6955259	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6955647	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs6961129	0.88[CEU][hapmap];0.92[JPT][hapmap]
rs6963210	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs6967457	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6967576	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6968144	0.82[ASN][1000 genomes]
rs6968193	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs6970801	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6970990	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6975156	0.92[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs73147342	0.80[ASN][1000 genomes]
rs73151177	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736753	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs736754	0.80[ASN][1000 genomes]
rs7458551	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs747632	0.88[CEU][hapmap];0.88[CHB][hapmap]
rs747633	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7776638	0.92[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap]
rs7777415	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs7781916	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs7789380	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7789440	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7790229	0.80[ASN][1000 genomes]
rs7794187	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7796611	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7796762	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7797943	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7802382	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7802560	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7806739	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs7807455	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7807555	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7812180	0.92[CEU][hapmap]
rs954050	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2291747	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL
rs2291747	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97836800-97857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:97841000-97858600	Weak transcription	Psoas Muscle	Psoas
3	chr7:97841200-97867800	Weak transcription	HUVEC	blood vessel
4	chr7:97841200-97880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:97841400-97858600	Weak transcription	NH-A	brain
6	chr7:97841400-97866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:97841400-97879400	Weak transcription	Fetal Brain Male	brain
8	chr7:97841400-97880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:97841600-97853800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:97841800-97867400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:97842200-97868400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:97843400-97855000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:97843800-97857000	Weak transcription	Right Atrium	heart
14	chr7:97845200-97877400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:97846800-97856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:97848000-97857600	Weak transcription	Stomach Mucosa	stomach
17	chr7:97848000-97877600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:97848000-97880600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:97848600-97873200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:97848800-97855200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:97849000-97864600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:97849200-97857800	Strong transcription	Fetal Muscle Leg	muscle
23	chr7:97849400-97863400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:97849800-97858000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:97850000-97871800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:97850000-97878000	Strong transcription	Fetal Stomach	stomach
27	chr7:97850200-97858200	Strong transcription	Liver	Liver
28	chr7:97850200-97874400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:97850200-97875400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:97850400-97872800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr7:97850400-97878600	Weak transcription	GM12878-XiMat	blood
32	chr7:97850600-97855400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:97850600-97855600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:97850600-97856200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:97850600-97856200	Strong transcription	Brain Germinal Matrix	brain
36	chr7:97850600-97864200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:97850600-97872800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:97850600-97874400	Strong transcription	Adipose Nuclei	Adipose
39	chr7:97850600-97875600	Strong transcription	Fetal Brain Female	brain
40	chr7:97850800-97854000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:97850800-97855600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:97850800-97855800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:97850800-97856000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:97850800-97856000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr7:97850800-97858400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:97850800-97860600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:97850800-97863000	Strong transcription	Ovary	ovary
48	chr7:97850800-97863600	Strong transcription	Lung	lung
49	chr7:97850800-97864200	Strong transcription	Fetal Intestine Small	intestine
50	chr7:97850800-97875400	Strong transcription	Thymus	Thymus

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