Variant report

Variant	rs12571098
Chromosome Location	chr10:99095208-99095209
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	FOXA2	chr10:99094136-99095232	A549	lung:	n/a	n/a
2	GTF3C2	chr10:99094554-99095225	K562	blood:	n/a	n/a
3	JUN	chr10:99094130-99095435	K562	blood:	n/a	chr10:99094909-99094918 chr10:99094833-99094842 chr10:99095376-99095384
4	TCF12	chr10:99094212-99095299	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr10:99094000-99095220	HCT-116	colon:	n/a	n/a
6	EP300	chr10:99094213-99095230	ECC-1	luminal epithelium:	n/a	chr10:99094834-99094850
7	JUND	chr10:99094067-99095313	GM12878	blood:	n/a	chr10:99094909-99094918 chr10:99094833-99094842
8	MXI1	chr10:99092405-99095483	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr10:99094105-99095351	A549	lung:	n/a	n/a
10	CTBP2	chr10:99094393-99095239	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr10:99091626-99095332	IMR90	lung:	n/a	chr10:99094876-99094886
12	CHD2	chr10:99094446-99095222	H1-hESC	embryonic stem cell:	n/a	chr10:99094876-99094886
13	ZBTB7A	chr10:99094494-99095309	ECC-1	luminal epithelium:	n/a	n/a
14	MYC	chr10:99094301-99095496	A549	lung:	n/a	n/a
15	MAZ	chr10:99094281-99095242	K562	blood:	n/a	n/a
16	E2F6	chr10:99094200-99095225	A549	lung:	n/a	chr10:99094789-99094800 chr10:99094910-99094922
17	CREB1	chr10:99094266-99095453	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr10:99093039-99095247	A549	lung:	n/a	n/a
19	MAZ	chr10:99092440-99095226	IMR90	lung:	n/a	n/a
20	MXI1	chr10:99092377-99095232	IMR90	lung:	n/a	n/a
21	ZNF384	chr10:99094570-99095286	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99095023..99098677-chr10:99109833..99114591,4	MCF-7	breast:
2	chr10:99049975..99053832-chr10:99093402..99096465,5	K562	blood:
3	chr10:99069668..99072343-chr10:99094033..99096294,2	MCF-7	breast:
4	chr10:99094972..99096841-chr10:99101105..99102688,2	MCF-7	breast:
5	chr10:99067399..99070806-chr10:99092978..99095924,3	K562	blood:
6	chr10:99094747..99096526-chr10:99120700..99122428,2	MCF-7	breast:
7	chr10:99048545..99053546-chr10:99092341..99096465,6	K562	blood:
8	chr10:99093772..99095545-chr12:121124812..121127214,2	MCF-7	breast:

Variant related genes	Relation type
FRAT2	TF binding region
ENSG00000269891	Chromatin interaction
ENSG00000237169	Chromatin interaction
ENSG00000213390	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10736116	0.83[EUR][1000 genomes]
rs10748694	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10786324	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10786325	0.81[AMR][1000 genomes]
rs10786326	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10786327	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10786329	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10786330	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786332	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786333	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10786334	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10786335	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882883	0.80[EUR][1000 genomes]
rs10882884	0.80[EUR][1000 genomes]
rs10882889	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10882891	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10882894	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10882897	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882898	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882899	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189120	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11189122	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11189127	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189131	0.85[EUR][1000 genomes]
rs11189132	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11189137	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189138	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12221430	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12413688	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1334892	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1890966	0.95[ASN][1000 genomes]
rs3740512	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740522	0.80[EUR][1000 genomes]
rs3781373	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4917766	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4919087	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4919089	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4919090	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4919091	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61863767	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6584116	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7067835	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7072078	0.80[EUR][1000 genomes]
rs7076523	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7078288	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7080275	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7901853	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs945187	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs945189	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS 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	27 gene(s)	inside rSNPs	diseases
4	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh 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 target site	26 gene(s)	inside rSNPs	diseases
6	nsv825533	chr10:99070570-99115599	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv825534	chr10:99081505-99115599	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99091400-99095400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:99091400-99095400	Active TSS	K562	blood
3	chr10:99091400-99095800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:99091400-99095800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr10:99091600-99095400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr10:99092000-99095400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:99092000-99095400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:99092000-99095400	Active TSS	Brain Angular Gyrus	brain
9	chr10:99092000-99095400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:99092000-99095400	Active TSS	Rectal Smooth Muscle	rectum
11	chr10:99092000-99095600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr10:99092200-99095400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:99092200-99095400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr10:99093200-99095400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr10:99093200-99095400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr10:99093400-99095400	Active TSS	Primary T cells from cord blood	blood
17	chr10:99093400-99095400	Active TSS	Aorta	Aorta
18	chr10:99093400-99095400	Active TSS	Stomach Smooth Muscle	stomach
19	chr10:99093400-99095400	Active TSS	Thymus	Thymus
20	chr10:99093600-99095400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:99093600-99095400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:99093600-99095400	Active TSS	Brain Cingulate Gyrus	brain
23	chr10:99093600-99095400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr10:99093600-99095800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr10:99093800-99095400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:99093800-99095400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:99093800-99095400	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr10:99094000-99095800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr10:99094400-99096000	Active TSS	Primary hematopoietic stem cells	blood
30	chr10:99094600-99095400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:99094800-99095400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr10:99094800-99095400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:99094800-99095400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:99094800-99095400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:99094800-99096600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:99095000-99095400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr10:99095000-99095400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr10:99095000-99095400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr10:99095000-99095400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr10:99095000-99095400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:99095000-99095400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr10:99095000-99095400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr10:99095000-99095400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr10:99095000-99095400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:99095000-99095400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:99095000-99095400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr10:99095000-99095400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:99095000-99095400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:99095000-99095400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr10:99095000-99095400	Flanking Active TSS	Colonic Mucosa	Colon

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