Variant report

Variant	rs72930468
Chromosome Location	chr11:34936820-34936821
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:34936558-34937164	HL-60	blood:	n/a	n/a
2	SPI1	chr11:34936704-34936956	GM12891	blood:	n/a	n/a
3	MAFK	chr11:34936790-34936934	HepG2	liver:	n/a	n/a
4	SPI1	chr11:34936728-34937046	HL-60	blood:	n/a	n/a
5	MAZ	chr11:34936742-34938929	IMR90	lung:	n/a	chr11:34938367-34938377
6	REST	chr11:34936754-34939488	H1-neurons	neurons:	n/a	chr11:34938411-34938424 chr11:34938408-34938421 chr11:34937546-34937556 chr11:34937662-34937675
7	POLR2A	chr11:34936492-34937063	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr11:34936761-34936924	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:34936781-34936831	NH-A	brain:	n/a
2	chr11:34936781-34936831	HIPEpiC	eye:	n/a
3	chr11:34936781-34936831	SK-N-MC	brain:	n/a
4	chr11:34936781-34936831	AG04449	skin:	fetal
5	chr11:34936781-34936831	H1-hESC	embryonic stem cell:	embryo
6	chr11:34936781-34936831	GM12891	blood:	n/a
7	chr11:34936781-34936831	HAEpiC	amniotic membrane:	n/a
8	chr11:34936781-34936831	AoSMC	blood vessel:	n/a
9	chr11:34936781-34936831	AG04450	lung:	fetal
10	chr11:34936781-34936831	HRCEpiC	kidney:	n/a
11	chr11:34936781-34936831	HMEC	breast:	n/a
12	chr11:34936781-34936831	ECC-1	luminal epithelium:	n/a
13	chr11:34936781-34936831	HRE	kidney:	n/a
14	chr11:34936781-34936831	ProgFib	skin:	n/a
15	chr11:34936781-34936831	ovcar-3	ovarian:	n/a
16	chr11:34936781-34936831	A549	lung:	n/a
17	chr11:34936781-34936831	BE2_C	brain:	n/a
18	chr11:34936781-34936831	HEEpiC	esophagus:	n/a
19	chr11:34936781-34936831	MCF10A-Er-Src	breast:	n/a
20	chr11:34936781-34936831	Caco-2	colon:	n/a
21	chr11:34936781-34936831	AG09309	skin:	n/a
22	chr11:34936781-34936831	PFSK-1	brain:	n/a
23	chr11:34936781-34936831	HNPCEpiC	eye:	n/a
24	chr11:34936781-34936831	CMK	blood:	n/a
25	chr11:34936781-34936831	AG09319	gingival:	n/a
26	chr11:34936781-34936831	HCM	heart:	n/a
27	chr11:34936781-34936831	HCF	heart:	n/a
28	chr11:34936781-34936831	GM12892	blood:	n/a
29	chr11:34936781-34936831	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:34936781-34936831	NT2-D1	testis:	n/a
31	chr11:34936781-34936831	U87	brain:	n/a
32	chr11:34936781-34936831	Jurkat	blood:	n/a
33	chr11:34936781-34936831	NB4	blood:	n/a
34	chr11:34936781-34936831	GM19239	blood:	n/a
35	chr11:34936781-34936831	MCF-7	breast:	n/a
36	chr11:34936781-34936831	LNCaP	prostate:	n/a
37	chr11:34936781-34936831	PrEC	prostate:	n/a
38	chr11:34936781-34936831	SK-N-SH	brain:	n/a
39	chr11:34936781-34936831	HUVEC	blood vessel:	n/a
40	chr11:34936781-34936831	Hepatocyte	liver:	n/a
41	chr11:34936781-34936831	HCT-116	colon:	n/a
42	chr11:34936781-34936831	NHDF-neo	bronchial:	n/a
43	chr11:34936781-34936831	SKMC	muscle:	n/a
44	chr11:34936781-34936831	PANC-1	pancreas:	n/a
45	chr11:34936781-34936831	GM06990	blood:	n/a
46	chr11:34936781-34936831	HRPEpiC	eye:	n/a
47	chr11:34936781-34936831	T-47D	breast:	n/a
48	chr11:34936781-34936831	HEK293	kidney:	embryo
49	chr11:34936781-34936831	HCPEpiC	choroid plexus:	n/a
50	chr11:34936781-34936831	IMR90	lung:	fetal

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34591227..34593757-chr11:34936738..34938685,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDHX	TF binding region
PDHX	CpG island
ENSG00000255427	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10488802	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10836317	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1117050	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11539202	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11601737	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11602364	0.86[AMR][1000 genomes]
rs11602584	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11605600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11605972	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605993	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11606580	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11606871	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11607986	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11608116	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1409718	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1509661	0.81[AMR][1000 genomes]
rs17347979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17348697	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17348711	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17349298	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17363135	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17432226	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17433496	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17434808	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17434946	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17711539	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17783998	0.86[AMR][1000 genomes]
rs17784324	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2217479	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2421744	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3852515	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3852516	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3852517	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4534556	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55672020	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55868872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55911702	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55929026	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55957800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56061305	0.82[EUR][1000 genomes]
rs61734605	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7110461	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72912924	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72912934	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72914758	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72922479	0.86[AMR][1000 genomes]
rs72922482	0.86[AMR][1000 genomes]
rs72924508	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72924541	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72924562	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72926580	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72928507	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72930433	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72930443	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72930458	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72930462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930480	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7479823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937316	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7948977	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7950996	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv34511	chr11:34914124-34942836	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv2756165	chr11:34914137-34942836	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs72930468	APIP	cis	Stomach	GTEx
rs72930468	APIP	cis	Thyroid	GTEx
rs72930468	APIP	cis	Heart Left Ventricle	GTEx
rs72930468	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs72930468	APIP	cis	Esophagus Muscularis	GTEx
rs72930468	APIP	cis	Artery Tibial	GTEx
rs72930468	APIP	cis	lung	GTEx
rs72930468	APIP	cis	Adipose Subcutaneous	GTEx
rs72930468	APIP	cis	Artery Aorta	GTEx
rs72930468	APIP	cis	Nerve Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34923600-34937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:34925000-34937000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:34925600-34937000	Weak transcription	Ovary	ovary
4	chr11:34929200-34937000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:34930200-34937000	Weak transcription	Aorta	Aorta
6	chr11:34931200-34937000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:34931200-34937000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:34931200-34937000	Weak transcription	Esophagus	oesophagus
9	chr11:34931200-34937000	Weak transcription	Lung	lung
10	chr11:34931400-34937000	Weak transcription	Placenta	Placenta
11	chr11:34931400-34937000	Weak transcription	Gastric	stomach
12	chr11:34931800-34937000	Weak transcription	Left Ventricle	heart
13	chr11:34934800-34937200	Weak transcription	Spleen	Spleen
14	chr11:34935000-34937000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:34936000-34937000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:34936000-34937400	Flanking Active TSS	Dnd41	blood
17	chr11:34936200-34937000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:34936200-34939200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:34936200-34940000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:34936400-34937000	Weak transcription	Pancreas	Pancrea
21	chr11:34936600-34937000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:34936600-34937000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:34936600-34937000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:34936600-34937000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:34936600-34937000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:34936600-34937000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:34936600-34937000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:34936600-34937000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:34936600-34937000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr11:34936600-34937000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr11:34936600-34937000	Enhancers	Brain Substantia Nigra	brain
32	chr11:34936600-34937000	Flanking Active TSS	Fetal Lung	lung
33	chr11:34936600-34937000	Enhancers	Small Intestine	intestine
34	chr11:34936600-34937000	Flanking Active TSS	Thymus	Thymus
35	chr11:34936600-34937000	Flanking Active TSS	HepG2	liver
36	chr11:34936600-34937000	Flanking Active TSS	K562	blood
37	chr11:34936600-34937000	Flanking Active TSS	NH-A	brain
38	chr11:34936600-34937000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr11:34936600-34937200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr11:34936600-34937200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:34936600-34937200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:34936600-34937200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:34936600-34937200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:34936600-34937200	Flanking Active TSS	Fetal Heart	heart
45	chr11:34936600-34937200	Flanking Active TSS	Fetal Kidney	kidney
46	chr11:34936600-34937200	Flanking Active TSS	NHEK	skin
47	chr11:34936600-34937400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:34936600-34937400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr11:34936600-34937400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:34936600-34937400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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