Variant report

Variant	rs7102372
Chromosome Location	chr11:47496827-47496828
allele	C/T
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	chr11:47496703-47497022	K562	blood:	n/a	n/a
2	POLR2A	chr11:47495888-47497080	PFSK-1	brain:	n/a	n/a
3	ZNF263	chr11:47496788-47497429	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47492716..47498082-chr11:47498479..47503693,7	MCF-7	breast:
2	chr11:47495927..47498888-chr11:47520821..47523109,2	MCF-7	breast:
3	chr11:47495942..47497464-chr11:47509370..47511257,2	MCF-7	breast:

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11570058	0.91[CEU][hapmap]
rs11570067	0.91[CEU][hapmap]
rs12285933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17726706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3729989	0.91[CEU][hapmap]
rs3736101	0.81[CEU][hapmap]
rs3816724	0.81[CEU][hapmap]
rs45547231	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45603036	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45617144	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007045	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57680742	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895077	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895081	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895102	0.85[EUR][1000 genomes]
rs61895104	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61895111	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895113	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897423	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897424	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897426	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897429	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897430	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897432	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897434	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104800	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108608	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116534	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919527	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7102372	PSMC3	cis	cerebellum	SCAN
rs7102372	MTCH2	cis	cerebellum	SCAN
rs7102372	PSMC3	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47480000-47510000	Strong transcription	Thymus	Thymus
2	chr11:47480600-47508400	Strong transcription	Fetal Intestine Small	intestine
3	chr11:47480800-47511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:47480800-47511400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:47481000-47498400	Strong transcription	NHEK	skin
6	chr11:47483400-47508800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:47483600-47511400	Strong transcription	Dnd41	blood
8	chr11:47484800-47504800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:47484800-47510600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:47484800-47511000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:47485200-47511400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:47485400-47504800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:47485400-47511400	Strong transcription	Primary B cells from cord blood	blood
14	chr11:47485600-47498800	Strong transcription	K562	blood
15	chr11:47485600-47511000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:47485800-47518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:47486000-47510000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:47486200-47511200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:47486200-47511200	Strong transcription	Primary T cells from cord blood	blood
20	chr11:47486400-47510200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:47487800-47507400	Strong transcription	Fetal Intestine Large	intestine
22	chr11:47488200-47510800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:47488200-47511200	Strong transcription	GM12878-XiMat	blood
24	chr11:47488400-47509000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:47488400-47509800	Strong transcription	Placenta	Placenta
26	chr11:47488800-47510800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:47489000-47501000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:47489200-47500800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:47489200-47508400	Strong transcription	Fetal Stomach	stomach
30	chr11:47489200-47508800	Strong transcription	Spleen	Spleen
31	chr11:47489200-47510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
33	chr11:47489400-47498600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:47489400-47510800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:47489600-47498800	Strong transcription	HSMM	muscle
36	chr11:47489800-47499600	Strong transcription	Fetal Kidney	kidney
37	chr11:47489800-47509200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:47489800-47510000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:47489800-47510600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:47490000-47499800	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:47490000-47509000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr11:47490000-47510600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:47490000-47511000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:47490600-47500600	Strong transcription	Pancreas	Pancrea
45	chr11:47490600-47508800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:47490600-47509400	Strong transcription	Fetal Lung	lung
47	chr11:47490800-47498400	Strong transcription	Osteobl	bone
48	chr11:47490800-47498600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr11:47490800-47499000	Strong transcription	Gastric	stomach
50	chr11:47490800-47499200	Weak transcription	Right Atrium	heart

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