Variant report

Variant	rs12334539
Chromosome Location	chr8:120869143-120869144
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:120867508-120869309	Raji	blood:	n/a	n/a
2	RFX5	chr8:120868710-120869503	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr8:120867940-120869650	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr8:120869026-120869576	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:120867437-120869408	K562	blood:	n/a	n/a
6	POLR2A	chr8:120867604-120869324	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:120867609-120869385	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:120867512-120869438	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr8:120866889-120869518	SK-N-SH	brain:	n/a	n/a
10	USF2	chr8:120869090-120869407	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBP	chr8:120867606-120869458	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:120867609-120869385	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr8:120868909-120869507	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr8:120869004-120869533	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr8:120868880-120869520	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:120867766-120869184	HCT-116	colon:	n/a	n/a
17	POLR2A	chr8:120867387-120869595	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:120867448-120869290	K562	blood:	n/a	n/a
19	ZNF143	chr8:120868591-120869392	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr8:120868532-120869509	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr8:120869054-120869500	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr8:120868739-120869626	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr8:120867645-120869236	K562	blood:	n/a	n/a
24	SIN3A	chr8:120866963-120869509	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr8:120867581-120869280	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:120868916-120869331	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr8:120868904-120869537	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:120867586-120869206	K562	blood:	n/a	n/a
29	SIN3AK20	chr8:120867175-120869161	MCF-7	breast:	n/a	n/a
30	USF1	chr8:120869034-120869417	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF7	chr8:120867836-120869171	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:120867614-120869314	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120867539..120869566-chr8:120874837..120876413,2	MCF-7	breast:
2	chr8:120867684..120870037-chr8:120884451..120886345,2	K562	blood:
3	chr8:120868194..120870504-chr8:121469738..121472697,2	MCF-7	breast:
4	chr8:120866790..120869291-chr8:121456136..121458268,2	MCF-7	breast:
5	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
6	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:
7	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:

No data

Variant related genes	Relation type
DSCC1	TF binding region
ENSG00000155792	Chromatin interaction
ENSG00000064313	Chromatin interaction
ENSG00000244642	Chromatin interaction
ENSG00000172167	Chromatin interaction
ENSG00000245330	Chromatin interaction
ENSG00000172172	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10086597	1.00[ASN][1000 genomes]
rs10088028	1.00[ASN][1000 genomes]
rs10089043	1.00[ASN][1000 genomes]
rs10089416	1.00[ASN][1000 genomes]
rs10090726	1.00[ASN][1000 genomes]
rs10093746	1.00[ASN][1000 genomes]
rs10095185	1.00[ASN][1000 genomes]
rs10095406	1.00[ASN][1000 genomes]
rs10095508	1.00[ASN][1000 genomes]
rs10095955	1.00[ASN][1000 genomes]
rs10097203	1.00[ASN][1000 genomes]
rs10097757	1.00[ASN][1000 genomes]
rs10098362	1.00[ASN][1000 genomes]
rs10099163	1.00[ASN][1000 genomes]
rs10101222	1.00[ASN][1000 genomes]
rs10101391	1.00[ASN][1000 genomes]
rs10101983	1.00[ASN][1000 genomes]
rs10102102	1.00[ASN][1000 genomes]
rs10102508	1.00[ASN][1000 genomes]
rs10104449	1.00[ASN][1000 genomes]
rs10105858	1.00[ASN][1000 genomes]
rs10106425	1.00[ASN][1000 genomes]
rs10109920	1.00[ASN][1000 genomes]
rs10109941	1.00[ASN][1000 genomes]
rs10110853	1.00[ASN][1000 genomes]
rs10505373	1.00[ASN][1000 genomes]
rs12334414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334592	1.00[ASN][1000 genomes]
rs12386813	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386881	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13439791	1.00[ASN][1000 genomes]
rs1433949	1.00[ASN][1000 genomes]
rs16892875	1.00[ASN][1000 genomes]
rs16893011	1.00[ASN][1000 genomes]
rs16893021	1.00[ASN][1000 genomes]
rs16893034	1.00[ASN][1000 genomes]
rs2139432	1.00[ASN][1000 genomes]
rs2164021	1.00[ASN][1000 genomes]
rs28393075	1.00[ASN][1000 genomes]
rs28436011	1.00[ASN][1000 genomes]
rs28447970	1.00[ASN][1000 genomes]
rs28449953	1.00[ASN][1000 genomes]
rs28502370	1.00[ASN][1000 genomes]
rs28517862	1.00[ASN][1000 genomes]
rs28529634	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28570063	1.00[ASN][1000 genomes]
rs28575743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589493	1.00[ASN][1000 genomes]
rs28636993	1.00[ASN][1000 genomes]
rs28637899	1.00[ASN][1000 genomes]
rs28673002	1.00[ASN][1000 genomes]
rs28673290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28678910	1.00[ASN][1000 genomes]
rs28684724	1.00[ASN][1000 genomes]
rs28701610	1.00[ASN][1000 genomes]
rs28723382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28735236	1.00[ASN][1000 genomes]
rs28852781	1.00[ASN][1000 genomes]
rs4871029	1.00[ASN][1000 genomes]
rs4871774	1.00[ASN][1000 genomes]
rs4871792	1.00[ASN][1000 genomes]
rs55834530	1.00[ASN][1000 genomes]
rs6469842	1.00[ASN][1000 genomes]
rs6469843	1.00[ASN][1000 genomes]
rs6980897	1.00[ASN][1000 genomes]
rs6981151	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984913	1.00[ASN][1000 genomes]
rs6986364	1.00[ASN][1000 genomes]
rs6989284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990166	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998771	1.00[ASN][1000 genomes]
rs7006490	1.00[ASN][1000 genomes]
rs7009770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010474	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010646	1.00[ASN][1000 genomes]
rs7010729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012755	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673603	1.00[ASN][1000 genomes]
rs72673616	1.00[ASN][1000 genomes]
rs72673617	1.00[ASN][1000 genomes]
rs72673639	1.00[ASN][1000 genomes]
rs72673643	1.00[ASN][1000 genomes]
rs72690149	1.00[ASN][1000 genomes]
rs73702610	1.00[ASN][1000 genomes]
rs7831321	1.00[ASN][1000 genomes]
rs7833422	1.00[ASN][1000 genomes]
rs7843034	1.00[ASN][1000 genomes]
rs7843631	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956748	1.00[ASN][1000 genomes]
rs9656932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693192	1.00[ASN][1000 genomes]
rs9987078	1.00[ASN][1000 genomes]
rs9987272	1.00[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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120866600-120869200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr8:120867400-120869200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:120867800-120869200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:120867800-120869200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:120867800-120869200	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr8:120868000-120869400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:120868400-120869200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:120868400-120869200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:120868400-120869200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:120868400-120869200	Flanking Active TSS	A549	lung
11	chr8:120868400-120869200	Flanking Active TSS	Dnd41	blood
12	chr8:120868400-120869200	Flanking Active TSS	Hela-S3	cervix
13	chr8:120868400-120869200	Flanking Active TSS	Osteobl	bone
14	chr8:120868400-120869400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:120868400-120869600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:120868600-120869200	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr8:120868600-120869200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr8:120868600-120869200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr8:120868600-120869200	Flanking Active TSS	K562	blood
20	chr8:120868600-120869600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:120868600-120869600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:120868600-120869600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:120868800-120869200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:120868800-120869200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:120868800-120869200	Enhancers	Primary T cells from cord blood	blood
26	chr8:120868800-120869200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:120868800-120869200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:120868800-120869200	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr8:120868800-120869200	Enhancers	Fetal Heart	heart
30	chr8:120868800-120869200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:120868800-120869200	Enhancers	NHDF-Ad	bronchial
32	chr8:120868800-120869200	Enhancers	NHLF	lung
33	chr8:120868800-120869400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:120868800-120869400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:120868800-120869600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:120868800-120869600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:120868800-120869600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:120868800-120869600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr8:120868800-120869600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr8:120868800-120869600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:120868800-120869600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:120868800-120869600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:120868800-120869600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:120868800-120869600	Enhancers	Fetal Lung	lung
45	chr8:120868800-120870800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:120868800-120872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:120868800-120872600	Weak transcription	Esophagus	oesophagus
48	chr8:120868800-120879200	Weak transcription	Stomach Mucosa	stomach
49	chr8:120868800-120885600	Weak transcription	Left Ventricle	heart
50	chr8:120869000-120869200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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