Variant report

Variant	rs4407291
Chromosome Location	chr2:32384422-32384423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32382376..32384425-chr2:32389737..32391291,2	MCF-7	breast:
2	chr2:32382124..32388019-chr2:32388107..32392393,6	MCF-7	breast:
3	chr2:32367367..32371154-chr2:32378343..32385071,6	K562	blood:
4	chr2:32375821..32378690-chr2:32383095..32385138,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10172468	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10208246	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11124278	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11676475	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11678119	0.91[ASN][1000 genomes]
rs11683760	0.85[ASN][1000 genomes]
rs11683842	0.85[ASN][1000 genomes]
rs11694630	0.92[ASN][1000 genomes]
rs12465124	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12465351	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12474598	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12611678	0.80[ASN][1000 genomes]
rs12614686	0.84[ASN][1000 genomes]
rs12995952	0.89[ASN][1000 genomes]
rs12997026	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13427170	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13431540	0.82[AMR][1000 genomes]
rs177083	0.84[EUR][1000 genomes]
rs212686	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs212687	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs212694	0.85[EUR][1000 genomes]
rs212703	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs212704	0.83[EUR][1000 genomes]
rs212713	0.86[EUR][1000 genomes]
rs212738	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs212739	0.95[ASN][1000 genomes]
rs212740	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212741	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212743	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs212744	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs212746	0.81[ASN][1000 genomes]
rs212748	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs212749	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212753	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212755	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212757	0.89[EUR][1000 genomes]
rs212762	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs216544	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2280973	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294179	0.80[ASN][1000 genomes]
rs2366736	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2886393	0.87[ASN][1000 genomes]
rs34976640	0.87[ASN][1000 genomes]
rs3752916	0.80[ASN][1000 genomes]
rs3752917	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3769602	0.93[ASN][1000 genomes]
rs3769603	0.84[ASN][1000 genomes]
rs3851308	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3851310	0.84[ASN][1000 genomes]
rs4258846	0.91[ASN][1000 genomes]
rs4519572	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952209	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4952252	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55877106	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56208031	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62134021	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6716179	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6717209	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6723154	0.85[ASN][1000 genomes]
rs6761417	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7572964	0.89[ASN][1000 genomes]
rs7581432	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7588883	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7592239	0.90[ASN][1000 genomes]
rs7592356	0.87[ASN][1000 genomes]
rs7604289	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32331600-32390200	Weak transcription	Gastric	stomach
2	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
3	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
6	chr2:32344200-32389600	Weak transcription	HMEC	breast
7	chr2:32354600-32390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:32354800-32389600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:32355000-32389800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:32355000-32390200	Weak transcription	Small Intestine	intestine
11	chr2:32355400-32389800	Weak transcription	HUVEC	blood vessel
12	chr2:32355600-32389600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:32355600-32389800	Weak transcription	Spleen	Spleen
14	chr2:32357400-32389800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:32360000-32390200	Weak transcription	Ovary	ovary
16	chr2:32361000-32389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:32361200-32389600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:32361200-32389600	Weak transcription	NHEK	skin
19	chr2:32361200-32389600	Weak transcription	Osteobl	bone
20	chr2:32361400-32389600	Weak transcription	Fetal Heart	heart
21	chr2:32361400-32389600	Weak transcription	Hela-S3	cervix
22	chr2:32361600-32389600	Weak transcription	NH-A	brain
23	chr2:32363200-32389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:32363400-32386200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:32363400-32389800	Weak transcription	Fetal Kidney	kidney
26	chr2:32363600-32389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:32365000-32389800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:32367200-32389800	Weak transcription	Fetal Lung	lung
29	chr2:32367800-32389800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:32369800-32389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:32370000-32389400	Weak transcription	GM12878-XiMat	blood
32	chr2:32370000-32389600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:32370000-32389800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:32370600-32389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:32371000-32390200	Weak transcription	Left Ventricle	heart
36	chr2:32371000-32390200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:32371200-32389800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:32371400-32389400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:32371400-32389600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:32371400-32389600	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:32371800-32389400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:32371800-32389600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:32371800-32389600	Weak transcription	Thymus	Thymus
44	chr2:32371800-32389800	Weak transcription	Right Ventricle	heart
45	chr2:32372200-32389800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:32372600-32389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:32373000-32389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:32373600-32389400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:32373800-32390000	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:32374000-32389800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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