Variant report

Variant	rs7947143
Chromosome Location	chr11:64090422-64090423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64089999-64091271	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:64090098-64090570	GM12878	blood:	n/a	n/a
3	NR2F2	chr11:64090369-64090744	K562	blood:	n/a	chr11:64090585-64090600
4	POLR2A	chr11:64090333-64091529	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:64089583-64091382	GM12878	blood:	n/a	n/a
6	ZBTB7A	chr11:64090361-64090722	K562	blood:	n/a	n/a
7	POLR2A	chr11:64090337-64091115	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:64090264-64091294	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:64089929-64091147	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:64089779-64091538	K562	blood:	n/a	n/a
11	NR2F2	chr11:64090309-64090801	K562	blood:	n/a	chr11:64090585-64090600
12	POLR2A	chr11:64089925-64091282	Hela-S3	cervix:	n/a	n/a
13	MAFK	chr11:64090390-64090424	K562	blood:	n/a	n/a
14	ZBTB7A	chr11:64090389-64090722	K562	blood:	n/a	n/a
15	POLR2A	chr11:64090026-64090474	GM12892	blood:	n/a	n/a
16	HMGN3	chr11:64090244-64090450	K562	blood:	n/a	n/a
17	BACH1	chr11:64090365-64090543	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:64089880-64091609	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr11:64090384-64090773	K562	blood:	n/a	n/a
20	POLR2A	chr11:64090220-64091158	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:64089928-64090810	K562	blood:	n/a	n/a
22	POLR2A	chr11:64090388-64090725	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:64090061-64090462	GM12891	blood:	n/a	n/a
24	TEAD4	chr11:64090280-64090551	H1-hESC	embryonic stem cell:	n/a	chr11:64090421-64090430
25	POLR2A	chr11:64090290-64091371	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr11:64090142-64091194	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:64090422-64090959	HCT-116	colon:	n/a	n/a
28	POLR2A	chr11:64090119-64090849	GM12891	blood:	n/a	n/a
29	MAX	chr11:64090248-64090791	K562	blood:	n/a	chr11:64090432-64090439
30	ELF1	chr11:64090297-64090564	K562	blood:	n/a	n/a
31	POLR2A	chr11:64090337-64090624	K562	blood:	n/a	n/a
32	POLR2A	chr11:64090035-64091132	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64090421..64092966-chr11:64097826..64099466,2	MCF-7	breast:
2	chr11:64087466..64090452-chr11:64106941..64109054,2	MCF-7	breast:
3	chr11:64059173..64060678-chr11:64089016..64091569,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRMT112	TF binding region
ENSG00000168071	Chromatin interaction
ENSG00000182450	Chromatin interaction
ENSG00000257069	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1047206	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606014	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12785488	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12788266	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793347	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12798408	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12808002	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276014	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286614	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28395875	0.86[ASN][1000 genomes]
rs28395876	0.86[ASN][1000 genomes]
rs34292685	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35692796	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41294396	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477895	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs66968227	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71456304	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71456309	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7938380	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7939107	0.83[AMR][1000 genomes];0.86[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	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
11	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
13	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
14	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
15	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
16	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7947143	TEX40	cis	Thyroid	GTEx
rs7947143	TRPT1	cis	Muscle Skeletal	GTEx
rs7947143	PPP1R14B	cis	Heart Left Ventricle	GTEx
rs7947143	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64086800-64096600	Weak transcription	Right Atrium	heart
2	chr11:64086800-64099000	Weak transcription	Small Intestine	intestine
3	chr11:64087000-64091000	Genic enhancers	Fetal Intestine Small	intestine
4	chr11:64087000-64091400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:64087000-64091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:64087000-64097200	Weak transcription	HSMMtube	muscle
7	chr11:64087000-64099000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:64087000-64099000	Weak transcription	HSMM	muscle
9	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64087200-64091400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:64087200-64091400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:64087200-64091600	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:64087200-64091600	Strong transcription	Fetal Stomach	stomach
14	chr11:64087200-64098800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:64087200-64099000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:64087200-64099000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:64087400-64090600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:64087400-64091000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:64087400-64091000	Genic enhancers	HMEC	breast
20	chr11:64087400-64091200	Strong transcription	Adipose Nuclei	Adipose
21	chr11:64087400-64091600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:64087400-64093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:64087400-64096800	Weak transcription	Psoas Muscle	Psoas
24	chr11:64087400-64097000	Weak transcription	HUVEC	blood vessel
25	chr11:64087400-64099000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:64087400-64099000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:64087600-64090600	Strong transcription	Left Ventricle	heart
28	chr11:64087600-64091600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr11:64087800-64090600	Strong transcription	Brain Hippocampus Middle	brain
30	chr11:64087800-64090800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:64087800-64090800	Strong transcription	Liver	Liver
32	chr11:64087800-64090800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:64087800-64091000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:64087800-64091000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:64087800-64091200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr11:64088000-64090600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:64088000-64090800	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr11:64088000-64090800	Genic enhancers	Fetal Intestine Large	intestine
39	chr11:64088000-64090800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:64088000-64090800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:64088000-64091000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:64088000-64091000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:64088000-64091000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:64088000-64091000	Strong transcription	Brain Cingulate Gyrus	brain
45	chr11:64088000-64091000	Strong transcription	NHLF	lung
46	chr11:64088000-64091200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:64088000-64091200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:64088000-64091200	Strong transcription	Brain Anterior Caudate	brain
49	chr11:64088000-64091600	Strong transcription	Primary T cells from cord blood	blood
50	chr11:64088200-64090600	Strong transcription	Primary T cells fromperipheralblood	blood

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