Variant report

Variant	rs12712328
Chromosome Location	chr2:32654636-32654637
allele	A/C
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	E2F4	chr2:32654574-32654743	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32651894..32653691-chr2:32654473..32656959,2	K562	blood:
2	chr2:32653224..32654777-chr2:32659583..32661293,2	MCF-7	breast:

Variant related genes	Relation type
BIRC6	TF binding region
ENSG00000115760	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10490457	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11674984	0.81[ASN][1000 genomes]
rs11675610	0.94[ASN][1000 genomes]
rs11678584	1.00[JPT][hapmap]
rs11682613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11683905	0.82[ASN][1000 genomes]
rs11686349	0.94[ASN][1000 genomes]
rs12466713	0.82[ASN][1000 genomes]
rs17011935	1.00[JPT][hapmap]
rs17011982	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17429032	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17548357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17820747	0.88[ASN][1000 genomes]
rs3731579	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3731581	0.87[ASN][1000 genomes]
rs3769598	0.90[ASN][1000 genomes]
rs4435504	0.87[ASN][1000 genomes]
rs55935060	0.84[ASN][1000 genomes]
rs56001387	0.82[ASN][1000 genomes]
rs62136301	0.90[ASN][1000 genomes]
rs62136307	0.88[ASN][1000 genomes]
rs62136310	0.82[ASN][1000 genomes]
rs6713796	0.82[ASN][1000 genomes]
rs6724235	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs67600408	0.81[ASN][1000 genomes]
rs72800820	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 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	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
3	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
4	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
5	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
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv869582	chr2:32626571-33335810	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv873780	chr2:32626617-32725022	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1008695	chr2:32627985-33331766	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv581270	chr2:32630434-33331219	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking 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 miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv581271	chr2:32630551-33331219	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv581272	chr2:32632664-33297583	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv581273	chr2:32633569-33331219	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv581274	chr2:32633690-32918112	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv581275	chr2:32633690-33237523	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
20	nsv581276	chr2:32633690-33309925	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
21	esv3693328	chr2:32633690-33324978	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
22	nsv456052	chr2:32633690-33328394	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
23	nsv456063	chr2:32633690-33328394	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
24	nsv581277	chr2:32633690-33328394	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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 miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
25	nsv456074	chr2:32633690-33329957	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
26	nsv456085	chr2:32633690-33329957	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
27	nsv456096	chr2:32633690-33329957	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
28	nsv581278	chr2:32633690-33329957	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
29	nsv581279	chr2:32633690-33332938	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	nsv1010038	chr2:32635272-33326484	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
31	nsv998111	chr2:32635272-33331548	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
32	nsv1002573	chr2:32635272-33331766	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
33	nsv1012897	chr2:32635272-33335508	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
34	nsv1000398	chr2:32638674-33331766	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
35	nsv1001300	chr2:32640768-33326484	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
36	nsv1005978	chr2:32640768-33331766	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
37	nsv948641	chr2:32643437-33318509	Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
38	nsv1005357	chr2:32643437-33331766	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
39	nsv581280	chr2:32643528-33328394	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
40	nsv833681	chr2:32652330-32815108	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32621000-32669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:32621200-32664600	Weak transcription	Fetal Brain Male	brain
3	chr2:32621600-32693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:32640800-32656000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:32640800-32663200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:32641200-32656600	Weak transcription	Fetal Brain Female	brain
7	chr2:32641200-32664000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:32641200-32664000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:32641400-32660600	Weak transcription	Colonic Mucosa	Colon
10	chr2:32641400-32664200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:32641600-32655800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:32642800-32656000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:32642800-32656000	Weak transcription	Fetal Kidney	kidney
14	chr2:32643000-32655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:32643000-32656000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:32643000-32660000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:32643200-32656000	Weak transcription	Fetal Lung	lung
18	chr2:32643200-32656600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:32643400-32655800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:32643400-32656000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:32643600-32656600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:32643800-32655400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:32644000-32656000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:32644000-32656000	Weak transcription	Fetal Stomach	stomach
25	chr2:32644200-32655800	Weak transcription	Fetal Thymus	thymus
26	chr2:32644800-32655200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:32645400-32656000	Weak transcription	Fetal Intestine Large	intestine
28	chr2:32646600-32656000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:32647400-32655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:32647400-32656000	Weak transcription	NHEK	skin
31	chr2:32647800-32656000	Weak transcription	Hela-S3	cervix
32	chr2:32650000-32655800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:32650000-32655800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:32650000-32656000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:32650000-32657000	Weak transcription	Thymus	Thymus
36	chr2:32651000-32671600	Weak transcription	Fetal Heart	heart
37	chr2:32651000-32689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:32651000-32695000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:32651200-32655800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:32651200-32655800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:32651200-32655800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:32651200-32655800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:32651200-32655800	Weak transcription	GM12878-XiMat	blood
44	chr2:32651200-32656000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:32651200-32656000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:32651200-32656000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:32651200-32656000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:32651200-32656000	Weak transcription	Left Ventricle	heart
49	chr2:32651200-32656000	Weak transcription	Lung	lung
50	chr2:32651200-32656800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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