Variant report

Variant	rs10877808
Chromosome Location	chr12:62585735-62585736
allele	C/G
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	POLR2A	chr12:62585418-62585841	H1-neurons	neurons:	n/a	n/a
2	JUND	chr12:62585549-62585796	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:62585727-62585762	MCF-7	breast:	n/a	n/a
4	MAX	chr12:62584579-62586603	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr12:62584609-62586633	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr12:62585097-62585736	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr12:62584649-62586604	H1-hESC	embryonic stem cell:	n/a	chr12:62585637-62585649 chr12:62585099-62585109
8	BACH1	chr12:62585555-62586190	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr12:62584617-62586639	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:62584244-62586144	H1-neurons	neurons:	n/a	n/a
11	MAX	chr12:62584615-62586710	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr12:62584607-62586723	H1-hESC	embryonic stem cell:	n/a	chr12:62585637-62585649 chr12:62585099-62585109
13	SUZ12	chr12:62584533-62586618	NT2-D1	testis:	n/a	n/a
14	CTCF	chr12:62585660-62585810	GM12866	blood:	n/a	n/a

Variant related genes	Relation type
FAM19A2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10784289	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877809	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10877810	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877811	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877816	0.92[JPT][hapmap]
rs11174363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174367	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174371	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174384	0.92[JPT][hapmap]
rs11174388	0.92[JPT][hapmap]
rs11174390	0.92[JPT][hapmap]
rs11174446	0.88[CEU][hapmap]
rs12227228	0.92[JPT][hapmap]
rs12312235	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs12319281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582117	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1907971	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279563	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359736	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137540	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314903	0.90[JPT][hapmap]
rs73319546	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62583200-62586800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62583600-62586000	Active TSS	Ovary	ovary
3	chr12:62583600-62586800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
4	chr12:62583800-62586200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:62583800-62586600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:62583800-62586600	Active TSS	Aorta	Aorta
7	chr12:62584000-62586000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:62584000-62586200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr12:62584000-62586400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:62584000-62586600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
11	chr12:62584000-62586600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr12:62584200-62586600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:62584200-62586600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:62584200-62586600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:62584200-62586800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:62584200-62586800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
17	chr12:62584400-62585800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
18	chr12:62584400-62586000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:62584400-62586200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
22	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr12:62584600-62585800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
24	chr12:62584600-62586000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:62584600-62586000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:62584600-62586000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:62584600-62586200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:62584600-62586200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
29	chr12:62584600-62586200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:62584600-62586200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
31	chr12:62584600-62586400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
32	chr12:62584600-62586400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:62584600-62586400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr12:62584600-62586600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
38	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr12:62584600-62586600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr12:62584600-62587000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:62584800-62586000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr12:62584800-62586000	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr12:62584800-62586200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:62584800-62586200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
49	chr12:62584800-62586200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:62584800-62586200	Flanking Active TSS	Right Atrium	heart

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