Variant report

Variant	rs72914677
Chromosome Location	chr3:100323089-100323090
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	chr3:100321003..100323549-chr3:100347554..100350487,3	MCF-7	breast:
2	chr3:100322209..100326377-chr3:100427335..100430667,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114354	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10049153	0.83[EUR][1000 genomes]
rs16842455	0.81[EUR][1000 genomes]
rs16842458	0.81[EUR][1000 genomes]
rs16842471	0.81[EUR][1000 genomes]
rs16842472	0.81[EUR][1000 genomes]
rs16842478	0.81[EUR][1000 genomes]
rs28377730	1.00[EUR][1000 genomes]
rs35606932	0.81[EUR][1000 genomes]
rs41272969	0.81[EUR][1000 genomes]
rs41272973	0.81[EUR][1000 genomes]
rs41272977	0.81[EUR][1000 genomes]
rs41272989	0.81[EUR][1000 genomes]
rs41273547	0.81[EUR][1000 genomes]
rs55865709	0.81[EUR][1000 genomes]
rs56254963	0.81[EUR][1000 genomes]
rs56384617	0.81[EUR][1000 genomes]
rs57808154	0.81[EUR][1000 genomes]
rs58073790	0.81[EUR][1000 genomes]
rs58681466	1.00[AMR][1000 genomes]
rs59374249	0.81[EUR][1000 genomes]
rs60359060	0.81[EUR][1000 genomes]
rs60397735	1.00[AMR][1000 genomes]
rs72919417	0.81[EUR][1000 genomes]
rs72929300	1.00[EUR][1000 genomes]
rs72930658	0.81[EUR][1000 genomes]
rs72930661	0.81[EUR][1000 genomes]
rs72930666	0.81[EUR][1000 genomes]
rs72930669	0.81[EUR][1000 genomes]
rs72930671	0.81[EUR][1000 genomes]
rs72930673	0.81[EUR][1000 genomes]
rs72930674	0.81[EUR][1000 genomes]
rs72930679	0.81[EUR][1000 genomes]
rs73143119	1.00[EUR][1000 genomes]
rs7628074	0.81[EUR][1000 genomes]
rs7628965	0.81[EUR][1000 genomes]
rs7637207	0.81[EUR][1000 genomes]
rs7647983	0.81[EUR][1000 genomes]
rs9817663	1.00[EUR][1000 genomes]
rs9817778	0.83[EUR][1000 genomes]
rs9830610	1.00[EUR][1000 genomes]
rs9867888	0.83[EUR][1000 genomes]
rs9873252	1.00[EUR][1000 genomes]
rs9877317	0.81[EUR][1000 genomes]
rs9882151	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751965	chr3:100299310-100462527	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2751966	chr3:100299310-100468500	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2756284	chr3:100299329-100427937	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS 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
4	esv2752830	chr3:100299329-100442478	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv432464	chr3:100299329-100442478	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv2751967	chr3:100299329-100455139	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2751968	chr3:100299329-100476713	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv432466	chr3:100299329-100476713	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv536667	chr3:100308355-100445857	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv460770	chr3:100310812-100433592	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv591150	chr3:100310812-100433592	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2751969	chr3:100312499-100479384	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	esv2763708	chr3:100317928-100442509	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv591151	chr3:100322043-100433592	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100318200-100324200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:100318800-100323200	Enhancers	HMEC	breast
3	chr3:100321400-100324200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:100322600-100323800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:100322800-100323200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:100322800-100323200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:100322800-100323200	Enhancers	Liver	Liver
8	chr3:100322800-100324000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:100322800-100324200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:100322800-100325600	Weak transcription	Stomach Mucosa	stomach
11	chr3:100322800-100327800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:100322800-100327800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:100322800-100328000	Weak transcription	Colonic Mucosa	Colon
14	chr3:100322800-100328000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:100322800-100328200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:100322800-100328200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:100322800-100330200	Weak transcription	HepG2	liver
18	chr3:100323000-100324000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:100323000-100325200	Weak transcription	GM12878-XiMat	blood
20	chr3:100323000-100325800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:100323000-100325800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:100323000-100325800	Weak transcription	Fetal Intestine Large	intestine
23	chr3:100323000-100325800	Weak transcription	Fetal Intestine Small	intestine
24	chr3:100323000-100327800	Weak transcription	Primary T cells from cord blood	blood
25	chr3:100323000-100328000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:100323000-100328200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:100323000-100328200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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