Variant report

Variant	rs13353994
Chromosome Location	chr5:94022721-94022722
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	chr5:94022562-94022851	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:94013156..94016114-chr5:94021219..94023049,2	K562	blood:
2	chr5:94020834..94023576-chr5:94026554..94028869,2	K562	blood:
3	chr5:94014366..94016114-chr5:94021219..94023742,2	K562	blood:

Variant related genes	Relation type
ANKRD32	TF binding region
ENSG00000133302	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10035632	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10037228	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041262	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041551	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041843	0.87[ASN][1000 genomes]
rs10044797	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051931	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053484	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10056685	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10058130	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10058618	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061737	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062248	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070258	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10076188	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076461	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10078049	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078304	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476612	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10476613	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476615	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949227	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11955373	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960129	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516225	0.87[EUR][1000 genomes]
rs12517866	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12518034	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12522312	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169956	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13354061	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13358642	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13361811	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13362556	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28645132	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28787271	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs306573	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs306575	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869218	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55974730	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6862592	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6873364	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6879307	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs755898	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7705424	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7725095	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725698	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731360	0.80[EUR][1000 genomes]
rs7737779	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv882387	chr5:94001476-94071404	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13353994	ANKRD32	Cis_1M	lymphoblastoid	RTeQTL
rs13353994	MCTP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955800-94027600	Weak transcription	NH-A	brain
2	chr5:93976800-94025000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:93991200-94049000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:93994200-94030800	Weak transcription	Right Ventricle	heart
5	chr5:93994200-94047200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:93994400-94025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:93994400-94027600	Weak transcription	Liver	Liver
8	chr5:93994400-94027600	Weak transcription	NHDF-Ad	bronchial
9	chr5:93994400-94029000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:93994400-94048800	Weak transcription	Small Intestine	intestine
11	chr5:93994600-94026600	Weak transcription	Fetal Kidney	kidney
12	chr5:93994600-94029200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:93994600-94032200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:93995400-94024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:93995600-94024400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:93995600-94033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:93995600-94050400	Weak transcription	Esophagus	oesophagus
18	chr5:93996000-94024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:93996000-94027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:93996000-94036000	Weak transcription	GM12878-XiMat	blood
21	chr5:93996200-94026600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:93996200-94029800	Weak transcription	Ovary	ovary
23	chr5:93996600-94023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:93996600-94027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:93996600-94048400	Weak transcription	Lung	lung
26	chr5:93996800-94036200	Weak transcription	Gastric	stomach
27	chr5:93997000-94033800	Weak transcription	Placenta	Placenta
28	chr5:94001000-94030000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:94001200-94023000	Weak transcription	Adipose Nuclei	Adipose
30	chr5:94001600-94024200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:94001800-94027600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:94003800-94023000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:94007200-94025800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:94008600-94038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:94008800-94027600	Weak transcription	Osteobl	bone
36	chr5:94009000-94024200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:94010600-94027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:94010800-94024200	Strong transcription	Hela-S3	cervix
39	chr5:94010800-94024400	Weak transcription	Fetal Brain Male	brain
40	chr5:94010800-94024800	Weak transcription	HMEC	breast
41	chr5:94010800-94027600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:94010800-94027800	Weak transcription	NHLF	lung
43	chr5:94011000-94027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:94011000-94027800	Weak transcription	HUVEC	blood vessel
45	chr5:94011400-94029000	Weak transcription	Fetal Heart	heart
46	chr5:94012600-94022800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:94012600-94023800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:94012600-94024200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:94012600-94024200	Weak transcription	K562	blood
50	chr5:94012600-94024400	Weak transcription	A549	lung

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