Variant report

Variant	rs540647525
Chromosome Location	chr17:66904057-66904058
allele	G/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	MBD4	chr17:66904050-66904653	HepG2	liver:	n/a	n/a
2	FOXA1	chr17:66904038-66904787	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:66904028-66904666	HepG2	liver:	n/a	n/a
4	MAFK	chr17:66903754-66904589	HepG2	liver:	n/a	n/a
5	MYBL2	chr17:66904007-66904609	HepG2	liver:	n/a	n/a
6	EP300	chr17:66904021-66904748	HepG2	liver:	n/a	chr17:66904034-66904048
7	SP1	chr17:66904056-66904730	HepG2	liver:	n/a	n/a
8	MAFK	chr17:66903808-66904594	HepG2	liver:	n/a	n/a
9	EP300	chr17:66904046-66904770	HepG2	liver:	n/a	n/a
10	ARID3A	chr17:66903950-66904631	HepG2	liver:	n/a	n/a
11	MYBL2	chr17:66903741-66904756	HepG2	liver:	n/a	n/a
12	MAFF	chr17:66903792-66904603	HepG2	liver:	n/a	n/a
13	NFIC	chr17:66903726-66904696	HepG2	liver:	n/a	n/a
14	TEAD4	chr17:66903926-66904921	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66903121..66905132-chr17:66913940..66916268,2	MCF-7	breast:
2	chr17:66898068..66900129-chr17:66902594..66904436,2	K562	blood:

Variant related genes	Relation type
ABCA8	TF binding region
ENSG00000141338	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1061151	chr17:66881617-66973917	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv908697	chr17:66885526-66913936	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv908698	chr17:66885526-66915598	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv908699	chr17:66885526-66933003	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv908701	chr17:66888346-66978319	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv575928	chr17:66894861-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv1066412	chr17:66897540-66954067	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1846502	chr17:66899261-66966274	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv1849165	chr17:66899261-66978319	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv908702	chr17:66899290-66933003	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv908703	chr17:66904001-66978319	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66877000-66906200	Weak transcription	Fetal Stomach	stomach
2	chr17:66877800-66918200	Weak transcription	Fetal Brain Male	brain
3	chr17:66881200-66904200	Weak transcription	Psoas Muscle	Psoas
4	chr17:66881400-66906400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:66881400-66906400	Weak transcription	Right Ventricle	heart
6	chr17:66893000-66905200	Weak transcription	Fetal Muscle Leg	muscle
7	chr17:66893200-66906400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:66893400-66906400	Weak transcription	Fetal Heart	heart
9	chr17:66894000-66904400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr17:66896600-66906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:66898000-66905200	Weak transcription	K562	blood
12	chr17:66899000-66906200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:66899600-66904400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:66899600-66904400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:66899600-66906400	Weak transcription	Left Ventricle	heart
16	chr17:66899600-66906400	Weak transcription	Ovary	ovary
17	chr17:66899800-66904400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:66902200-66904400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:66902200-66907800	Enhancers	Brain Substantia Nigra	brain
20	chr17:66902400-66907800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr17:66902600-66906400	Enhancers	Brain Hippocampus Middle	brain
22	chr17:66902800-66904400	Enhancers	Brain Cingulate Gyrus	brain
23	chr17:66902800-66908000	Enhancers	HepG2	liver
24	chr17:66903000-66904600	Genic enhancers	Liver	Liver
25	chr17:66903000-66904800	Enhancers	Brain Angular Gyrus	brain
26	chr17:66903000-66906200	Enhancers	Brain Anterior Caudate	brain
27	chr17:66903000-66907800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:66903200-66904200	Weak transcription	NHEK	skin
29	chr17:66903200-66904600	Strong transcription	Adipose Nuclei	Adipose
30	chr17:66903200-66907000	Enhancers	HMEC	breast
31	chr17:66903200-66908200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr17:66903400-66904200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:66903400-66904400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:66903400-66905400	Strong transcription	Fetal Lung	lung
35	chr17:66903600-66905400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:66903800-66904200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:66903800-66904400	Weak transcription	Osteobl	bone
38	chr17:66903800-66907600	Enhancers	Colon Smooth Muscle	Colon

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