Variant report

Variant	rs576548
Chromosome Location	chr11:63759141-63759142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63684070..63686718-chr11:63758305..63761285,3	MCF-7	breast:
2	chr11:63757630..63760434-chr11:63765175..63767799,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167771	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1187867	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1211783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274687	1.00[EUR][1000 genomes]
rs161053	0.85[LWK][hapmap]
rs167658	1.00[EUR][1000 genomes]
rs3019784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3132752	0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320119	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320127	1.00[YRI][hapmap]
rs320147	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320149	0.85[YRI][hapmap];0.97[AFR][1000 genomes]
rs320153	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34036129	1.00[AMR][1000 genomes]
rs35352499	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs497037	0.85[LWK][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4980510	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs4980513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565004	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57155426	1.00[EUR][1000 genomes]
rs57290985	1.00[EUR][1000 genomes]
rs59587183	1.00[EUR][1000 genomes]
rs59830440	1.00[EUR][1000 genomes]
rs60466708	1.00[EUR][1000 genomes]
rs60969355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61246275	1.00[EUR][1000 genomes]
rs61761266	1.00[EUR][1000 genomes]
rs61761275	1.00[EUR][1000 genomes]
rs61761277	1.00[EUR][1000 genomes]
rs61761284	1.00[EUR][1000 genomes]
rs633561	1.00[EUR][1000 genomes]
rs6591829	0.82[AFR][1000 genomes]
rs7112935	1.00[EUR][1000 genomes]
rs7116315	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126106	1.00[AMR][1000 genomes]
rs7126239	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130472	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs901492	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	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
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	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
15	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	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
19	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs576548	EHD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63754800-63767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:63755000-63766600	Weak transcription	Right Atrium	heart
3	chr11:63755000-63769000	Weak transcription	Fetal Kidney	kidney
4	chr11:63755200-63761200	Weak transcription	HUVEC	blood vessel
5	chr11:63755200-63762000	Weak transcription	Small Intestine	intestine
6	chr11:63755200-63766600	Weak transcription	Stomach Mucosa	stomach
7	chr11:63755200-63775200	Weak transcription	Psoas Muscle	Psoas
8	chr11:63755400-63759400	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr11:63755400-63759600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:63755400-63759600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:63755400-63760400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:63755400-63762400	Weak transcription	Brain Substantia Nigra	brain
13	chr11:63755400-63765400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:63755400-63765400	Strong transcription	Fetal Stomach	stomach
15	chr11:63755400-63765600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:63755400-63766200	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:63755400-63766200	Strong transcription	Fetal Thymus	thymus
18	chr11:63755400-63766400	Strong transcription	NHLF	lung
19	chr11:63755400-63766600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:63755600-63759200	Strong transcription	Adipose Nuclei	Adipose
21	chr11:63755600-63759600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:63755600-63759800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:63755600-63764800	Weak transcription	Fetal Brain Male	brain
24	chr11:63755600-63765800	Strong transcription	NHEK	skin
25	chr11:63755600-63766000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:63755600-63766400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:63755800-63759400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:63755800-63759400	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr11:63755800-63759400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:63755800-63759400	Strong transcription	Ovary	ovary
31	chr11:63755800-63759600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:63755800-63760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:63755800-63760800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:63755800-63761000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:63755800-63761000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:63755800-63762200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:63755800-63764800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:63755800-63765000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:63755800-63766200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:63756000-63759200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:63756000-63759200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:63756000-63759200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:63756000-63759400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr11:63756000-63759400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:63756000-63759400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:63756000-63759400	Strong transcription	Liver	Liver
47	chr11:63756000-63759400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:63756000-63759400	Strong transcription	Fetal Intestine Large	intestine
49	chr11:63756000-63759600	Strong transcription	Placenta	Placenta
50	chr11:63756000-63759800	Strong transcription	Muscle Satellite Cultured Cells	--

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