Variant report

Variant	rs12820845
Chromosome Location	chr12:8172083-8172084
allele	A/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	E2F6	chr12:8171087-8172099	H1-hESC	embryonic stem cell:	n/a	chr12:8171358-8171368 chr12:8171363-8171372
2	SIN3A	chr12:8171202-8172131	H1-hESC	embryonic stem cell:	n/a	chr12:8171367-8171378 chr12:8171748-8171759
3	MYC	chr12:8171353-8172145	NB4	blood:	n/a	n/a
4	MAX	chr12:8171254-8172207	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr12:8171181-8172230	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr12:8171454-8172171	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8171182..8172888-chr12:8173729..8176530,2	K562	blood:
2	chr12:8088481..8090137-chr12:8171670..8173575,2	K562	blood:

Variant related genes	Relation type
ENSG00000255581	TF binding region
ENSG00000059804	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10732571	0.96[ASN][1000 genomes]
rs10846285	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846331	0.98[ASN][1000 genomes]
rs10846333	0.98[ASN][1000 genomes]
rs10846366	0.82[ASN][1000 genomes]
rs11056779	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11056780	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11056782	0.89[EUR][1000 genomes]
rs11056783	0.89[EUR][1000 genomes]
rs11609309	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611693	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12811781	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12813762	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817051	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12818249	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818933	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819689	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12820720	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12823208	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12825574	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12831827	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301853	0.84[ASN][1000 genomes]
rs4310684	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4628755	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4883470	0.96[ASN][1000 genomes]
rs58279638	0.86[ASN][1000 genomes]
rs6488820	0.95[ASN][1000 genomes]
rs7137199	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7294894	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299161	0.96[ASN][1000 genomes]
rs7299583	0.96[ASN][1000 genomes]
rs7313508	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7313772	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958000	0.82[ASN][1000 genomes]
rs7963223	0.98[ASN][1000 genomes]
rs7974225	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription 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 target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	nsv1054331	chr12:7924713-8183422	Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription 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 miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv541384	chr12:8003214-8188846	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
14	esv2751118	chr12:8017473-8190206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
15	nsv869752	chr12:8026388-8174912	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	nsv898729	chr12:8044997-8190206	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
17	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
18	nsv898732	chr12:8123306-8190206	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
19	nsv1044509	chr12:8130958-8182060	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8170800-8172200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:8170800-8172200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:8170800-8172200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:8170800-8172200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:8170800-8172400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:8171000-8172200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:8171000-8172200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:8171000-8172200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:8171000-8172200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:8171000-8172200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:8171000-8172200	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr12:8171200-8172200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:8171200-8172200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:8171200-8172200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:8171200-8172200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:8171200-8172200	Active TSS	Brain Anterior Caudate	brain
17	chr12:8171200-8172200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:8171200-8172200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr12:8171200-8172400	Active TSS	Thymus	Thymus
20	chr12:8171400-8172200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr12:8171600-8172200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:8171600-8172200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:8171600-8172200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr12:8171600-8172200	Bivalent Enhancer	Fetal Lung	lung
25	chr12:8171600-8172200	Bivalent Enhancer	HUVEC	blood vessel
26	chr12:8171600-8172200	Bivalent Enhancer	NHEK	skin
27	chr12:8171800-8172200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:8171800-8172200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr12:8171800-8172200	Enhancers	Primary B cells from cord blood	blood
30	chr12:8171800-8172200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr12:8171800-8172200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:8171800-8172200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr12:8171800-8172200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr12:8171800-8172200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:8171800-8172200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr12:8171800-8172200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr12:8171800-8172200	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr12:8171800-8172200	Enhancers	HMEC	breast
39	chr12:8171800-8172200	Flanking Active TSS	K562	blood
40	chr12:8171800-8172200	Bivalent/Poised TSS	NH-A	brain
41	chr12:8171800-8172800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:8171800-8178200	Weak transcription	Spleen	Spleen
43	chr12:8171800-8178600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:8172000-8172200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:8172000-8172200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:8172000-8172200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:8172000-8172200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:8172000-8172200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:8172000-8172200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:8172000-8172200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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