Variant report

Variant	rs10914026
Chromosome Location	chr1:180511764-180511765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2B	chr1:180511737-180512067	K562	blood:	n/a	n/a
2	TEAD4	chr1:180511244-180511784	ECC-1	luminal epithelium:	n/a	chr1:180511504-180511513
3	HEY1	chr1:180511744-180512270	K562	blood:	n/a	n/a
4	CTCF	chr1:180511760-180511910	AG04450	lung:	n/a	n/a
5	POLR2A	chr1:180511754-180512283	K562	blood:	n/a	n/a
6	TEAD4	chr1:180511207-180511899	ECC-1	luminal epithelium:	n/a	chr1:180511504-180511513
7	TBP	chr1:180511685-180512066	K562	blood:	n/a	n/a
8	TAF7	chr1:180511732-180512123	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr1:180511194-180511902	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr1:180511708-180512258	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180511395..180514188-chr1:180783985..180786756,2	K562	blood:
2	chr1:180511669..180514906-chr1:180530245..180533112,3	K562	blood:
3	chr1:180507839..180510458-chr1:180510629..180513153,2	K562	blood:
4	chr1:180511015..180513302-chr1:180517883..180519397,2	K562	blood:
5	chr1:180509296..180511935-chr1:180795313..180796906,2	K562	blood:
6	chr1:180505841..180513650-chr1:180514886..180521271,14	K562	blood:
7	chr1:180505455..180510458-chr1:180510629..180513153,4	K562	blood:
8	chr1:180501651..180503663-chr1:180510175..180512721,2	K562	blood:
9	chr1:180510781..180513155-chr1:180847874..180850004,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266683	TF binding region
ENSG00000266683	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10913989	1.00[AMR][1000 genomes]
rs10913993	1.00[AMR][1000 genomes]
rs10913997	1.00[AMR][1000 genomes]
rs10914015	1.00[AMR][1000 genomes]
rs10914025	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10914039	1.00[AMR][1000 genomes]
rs12060882	1.00[AMR][1000 genomes]
rs12065345	1.00[AMR][1000 genomes]
rs12065470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068605	1.00[AMR][1000 genomes]
rs12076376	1.00[AMR][1000 genomes]
rs12078865	1.00[AMR][1000 genomes]
rs12080367	1.00[AMR][1000 genomes]
rs12080976	1.00[AMR][1000 genomes]
rs12091034	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095564	1.00[AMR][1000 genomes]
rs12096761	1.00[AMR][1000 genomes]
rs12098212	1.00[AMR][1000 genomes]
rs12354363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051243	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180506200-180513200	Weak transcription	Pancreas	Pancrea
2	chr1:180507000-180514800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:180508000-180513200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:180508800-180513000	Enhancers	Fetal Heart	heart
5	chr1:180509400-180512800	Enhancers	Osteobl	bone
6	chr1:180509400-180513400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:180509600-180512200	Enhancers	HSMMtube	muscle
8	chr1:180510000-180512200	Enhancers	K562	blood
9	chr1:180510200-180512200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:180510200-180512600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:180510200-180516000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:180510400-180513000	Enhancers	Fetal Brain Male	brain
13	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:180510800-180512000	Weak transcription	Brain Germinal Matrix	brain
15	chr1:180511000-180512000	Enhancers	Left Ventricle	heart
16	chr1:180511000-180512200	Enhancers	Adipose Nuclei	Adipose
17	chr1:180511000-180512400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:180511000-180513400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:180511200-180511800	Enhancers	Right Atrium	heart
20	chr1:180511200-180512000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:180511200-180512000	Enhancers	Fetal Stomach	stomach
22	chr1:180511200-180512200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:180511200-180512200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:180511200-180512200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:180511200-180512200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:180511200-180512200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:180511200-180512200	Enhancers	Aorta	Aorta
28	chr1:180511200-180512200	Enhancers	Fetal Brain Female	brain
29	chr1:180511200-180512200	Enhancers	Ovary	ovary
30	chr1:180511200-180512200	Enhancers	Right Ventricle	heart
31	chr1:180511200-180512200	Enhancers	NH-A	brain
32	chr1:180511200-180512400	Enhancers	Fetal Muscle Leg	muscle
33	chr1:180511200-180512400	Enhancers	HSMM	muscle
34	chr1:180511200-180512600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:180511200-180512800	Enhancers	Colon Smooth Muscle	Colon
36	chr1:180511200-180512800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:180511200-180513400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:180511200-180513400	Enhancers	Brain Anterior Caudate	brain
39	chr1:180511400-180511800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:180511400-180511800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:180511400-180511800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:180511400-180512000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:180511400-180512000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:180511400-180512000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:180511400-180512000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:180511400-180512200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:180511400-180512200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:180511400-180512200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:180511400-180512200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:180511400-180512200	Enhancers	Brain Angular Gyrus	brain

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