Variant report

Variant	rs6488538
Chromosome Location	chr12:7794344-7794345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10431307	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10431309	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11055005	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11055006	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2110222	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60370337	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6488537	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73064617	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73064632	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7976005	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041155	chr12:7655137-7821891	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045650	chr12:7655137-7824995	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv557270	chr12:7727544-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv468990	chr12:7729433-7801532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv557271	chr12:7729433-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
6	nsv826213	chr12:7730932-7830644	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv468991	chr12:7756706-7821692	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv468992	chr12:7756706-7821692	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv557272	chr12:7756706-7821692	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv521149	chr12:7756706-7836988	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898643	chr12:7760124-7794736	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv826214	chr12:7760127-7803262	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv826215	chr12:7768336-7805060	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv826216	chr12:7768554-7818506	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv468993	chr12:7774028-7884351	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv557273	chr12:7774028-7884351	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv2422373	chr12:7774520-8070089	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
19	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
20	nsv1036408	chr12:7782625-7812010	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv1041213	chr12:7790477-7874346	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7791200-7794600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:7791200-7798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:7791400-7794600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:7791400-7794600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:7791400-7794600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:7791400-7794800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:7791400-7794800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:7791400-7794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:7791400-7795400	Enhancers	Fetal Thymus	thymus
10	chr12:7791400-7798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:7791400-7803600	Weak transcription	Fetal Intestine Large	intestine
12	chr12:7791600-7795200	Weak transcription	Stomach Mucosa	stomach
13	chr12:7792200-7794800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:7792200-7798200	Weak transcription	Primary B cells from cord blood	blood
15	chr12:7792400-7794600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:7792400-7794600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:7792400-7795000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:7792600-7797000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:7792800-7795600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:7793000-7794600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:7793000-7794800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:7793000-7795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:7793000-7795000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:7793000-7796600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:7793400-7795000	Enhancers	HepG2	liver
26	chr12:7793600-7794800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:7793800-7794800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:7793800-7795800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:7793800-7798400	Weak transcription	GM12878-XiMat	blood
30	chr12:7794000-7794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:7794000-7794800	Enhancers	Primary T cells from cord blood	blood
32	chr12:7794000-7795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:7794000-7795000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:7794000-7795200	Enhancers	Dnd41	blood
35	chr12:7794000-7795400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:7794000-7795400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:7794000-7795400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:7794000-7795400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:7794000-7796200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:7794000-7796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:7794000-7798200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:7794200-7794600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:7794200-7795200	Enhancers	Thymus	Thymus
44	chr12:7794200-7795400	Enhancers	Primary T helper cells fromperipheralblood	blood

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