Variant report

Variant	rs34570155
Chromosome Location	chr12:120807975-120807976
allele	C/T
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	CTBP2	chr12:120807784-120808676	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:120807924-120808230	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr12:120807881-120808077	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr12:120807911-120807998	H1-hESC	embryonic stem cell:	n/a	chr12:120807918-120807926
5	SIN3A	chr12:120807683-120808644	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120807836..120809663-chr12:120875850..120878030,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167

Variant related genes	Relation type
MSI1	TF binding region
RPS27P25	TF binding region
ENSG00000111775	Chromatin interaction
ENSG00000111780	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10735072	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774544	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849744	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065080	0.86[EUR][1000 genomes]
rs11065084	0.88[EUR][1000 genomes]
rs11065085	0.88[EUR][1000 genomes]
rs11065086	0.88[EUR][1000 genomes]
rs11065097	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1179435	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1465207	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238160	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239198	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2522137	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35842297	0.86[AMR][1000 genomes]
rs67278663	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68012838	0.82[EUR][1000 genomes]
rs7959801	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9669536	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv560437	chr12:120803783-120809590	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3393755	chr12:120805594-120808342	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3427204	chr12:120805794-120808192	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120805000-120808000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:120805200-120808000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:120805600-120808000	Active TSS	Left Ventricle	heart
4	chr12:120805800-120808000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:120805800-120808200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:120807200-120808000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:120807200-120808000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr12:120807200-120808000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr12:120807200-120808000	Bivalent Enhancer	Placenta	Placenta
10	chr12:120807200-120809000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:120807400-120808000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:120807400-120808000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
15	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
18	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr12:120807400-120808000	Flanking Active TSS	Right Ventricle	heart
21	chr12:120807400-120808000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr12:120807400-120808000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr12:120807400-120808000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr12:120807400-120808000	Flanking Bivalent TSS/Enh	A549	lung
26	chr12:120807400-120808200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:120807400-120808200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:120807400-120808200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:120807400-120808200	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr12:120807400-120808600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:120807400-120809000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr12:120807600-120808000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
33	chr12:120807600-120808000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
34	chr12:120807600-120808000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr12:120807600-120808000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
36	chr12:120807600-120808000	Enhancers	Ovary	ovary
37	chr12:120807600-120808000	Bivalent Enhancer	Psoas Muscle	Psoas
38	chr12:120807600-120808200	Flanking Active TSS	Fetal Brain Female	brain
39	chr12:120807600-120808200	Bivalent/Poised TSS	Fetal Kidney	kidney
40	chr12:120807600-120808400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:120807800-120808000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr12:120807800-120808000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:120807800-120808000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:120807800-120808000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:120807800-120808000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
46	chr12:120807800-120808000	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr12:120807800-120808000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr12:120807800-120808000	Flanking Active TSS	Fetal Brain Male	brain
49	chr12:120807800-120808000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr12:120807800-120808000	Bivalent Enhancer	Fetal Stomach	stomach

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