Variant report

Variant	rs4073612
Chromosome Location	chr11:93865651-93865652
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93862864..93865828-chr11:93884142..93886084,2	MCF-7	breast:
2	chr11:93865596..93867137-chr11:94149327..94151295,2	MCF-7	breast:
3	chr11:93860451..93862555-chr11:93865619..93868399,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263966	Chromatin interaction
ENSG00000110218	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10765652	0.81[AMR][1000 genomes]
rs10765653	0.81[AMR][1000 genomes]
rs1356565	0.81[ASN][1000 genomes]
rs1401186	0.81[ASN][1000 genomes]
rs2945640	0.80[ASN][1000 genomes]
rs2945641	0.81[ASN][1000 genomes]
rs2949861	0.81[ASN][1000 genomes]
rs4073613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4073615	0.83[CHB][hapmap]
rs4753126	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4753542	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753543	0.83[CHB][hapmap]
rs6483293	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv989619	chr11:93861937-93872912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4073612	PANX1	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93862800-93865800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr11:93862800-93865800	Flanking Active TSS	NHEK	skin
3	chr11:93862800-93866000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:93863000-93865800	Flanking Active TSS	HMEC	breast
5	chr11:93863000-93866600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:93863000-93866600	Enhancers	Spleen	Spleen
7	chr11:93863000-93867200	Enhancers	Esophagus	oesophagus
8	chr11:93863200-93865800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:93863200-93865800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:93863200-93865800	Flanking Active TSS	NHLF	lung
11	chr11:93863200-93866600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:93863400-93865800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:93863400-93865800	Flanking Active TSS	Fetal Brain Male	brain
14	chr11:93863400-93866200	Enhancers	Gastric	stomach
15	chr11:93863400-93866600	Enhancers	Fetal Heart	heart
16	chr11:93863400-93867400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:93863400-93868600	Enhancers	Pancreas	Pancrea
18	chr11:93863600-93865800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr11:93863600-93865800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:93863600-93866200	Enhancers	Fetal Intestine Large	intestine
21	chr11:93863600-93868400	Enhancers	Lung	lung
22	chr11:93863600-93868600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:93863600-93868800	Enhancers	Placenta	Placenta
24	chr11:93863600-93871400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:93863800-93865800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:93863800-93865800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:93863800-93866200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:93863800-93866400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:93863800-93868800	Enhancers	Left Ventricle	heart
30	chr11:93863800-93869800	Enhancers	Fetal Muscle Leg	muscle
31	chr11:93863800-93870200	Enhancers	Right Ventricle	heart
32	chr11:93864000-93865800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:93864000-93865800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:93864000-93867800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:93864000-93868200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:93864000-93871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:93864000-93879800	Weak transcription	Primary T cells from cord blood	blood
38	chr11:93864200-93868000	Enhancers	HUVEC	blood vessel
39	chr11:93864200-93868600	Enhancers	K562	blood
40	chr11:93864400-93866600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr11:93864400-93867600	Weak transcription	Primary B cells from cord blood	blood
42	chr11:93864400-93868200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:93864400-93868400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:93864400-93868600	Enhancers	Right Atrium	heart
45	chr11:93864400-93869000	Enhancers	Liver	Liver
46	chr11:93864400-93869400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:93864400-93870000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:93864400-93870200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:93864400-93872800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:93864600-93865800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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