Variant report

Variant	rs548003174
Chromosome Location	chr17:67138835-67138836
allele	C/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	POLR2A	chr17:67137535-67138914	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF12	chr17:67138468-67139001	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr17:67138688-67138857	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr17:67138621-67138873	IMR90	lung:	n/a	chr17:67138765-67138778 chr17:67138766-67138777
5	FOS	chr17:67138690-67138888	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr17:67138572-67138930	HepG2	liver:	n/a	chr17:67138765-67138778 chr17:67138766-67138777
7	FOS	chr17:67138613-67138873	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr17:67138631-67138893	HepG2	liver:	n/a	n/a
9	HNF4G	chr17:67138646-67138857	HepG2	liver:	n/a	chr17:67138750-67138765 chr17:67138750-67138765 chr17:67138748-67138763 chr17:67138751-67138763 chr17:67138750-67138765
10	FOS	chr17:67138580-67138853	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPD	chr17:67138661-67138866	HepG2	liver:	n/a	n/a
12	HNF4A	chr17:67138523-67138879	HepG2	liver:	n/a	chr17:67138750-67138765 chr17:67138750-67138765 chr17:67138749-67138764 chr17:67138751-67138763 chr17:67138750-67138765
13	TCF12	chr17:67138472-67139129	SK-N-SH	brain:	n/a	n/a
14	FOXP2	chr17:67138588-67138854	SK-N-MC	brain:	n/a	n/a
15	FOS	chr17:67138673-67138903	MCF10A-Er-Src	breast:	n/a	n/a
16	ARID3A	chr17:67138624-67138899	HepG2	liver:	n/a	n/a
17	POLR2A	chr17:67137623-67138921	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr17:67138637-67138866	HepG2	liver:	n/a	chr17:67138745-67138754 chr17:67138744-67138758
19	MYC	chr17:67138583-67138939	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr17:67138613-67138879	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr17:67137691-67138959	HUVEC	blood vessel:	n/a	n/a
22	STAT3	chr17:67138681-67139092	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr17:67138635-67138917	SK-N-SH_RA	brain:	n/a	chr17:67138745-67138754 chr17:67138744-67138758
24	STAT3	chr17:67137801-67138896	MCF10A-Er-Src	breast:	n/a	chr17:67138265-67138273
25	POLR2A	chr17:67138488-67138898	SK-N-MC	brain:	n/a	n/a
26	E2F4	chr17:67138660-67138868	MCF10A-Er-Src	breast:	n/a	n/a
27	HNF4A	chr17:67138660-67138899	HepG2	liver:	n/a	chr17:67138750-67138765 chr17:67138750-67138765 chr17:67138749-67138764 chr17:67138751-67138763 chr17:67138750-67138765
28	MYC	chr17:67138580-67138886	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67138378..67141973-chr17:67143185..67146328,3	K562	blood:
2	chr17:67115279..67117551-chr17:67138552..67141546,2	K562	blood:

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000154263	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv575930	chr17:67120025-67212031	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv960211	chr17:67138815-67144978	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
2	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
3	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:67127000-67143400	Weak transcription	Fetal Intestine Large	intestine
6	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:67130600-67146200	Weak transcription	Lung	lung
8	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:67133800-67145600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67134400-67143400	Weak transcription	Left Ventricle	heart
11	chr17:67134600-67145000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:67136200-67139000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:67137600-67139000	Enhancers	HepG2	liver
14	chr17:67137600-67139200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr17:67137800-67141200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr17:67137800-67141400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr17:67138000-67139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:67138000-67154000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr17:67138200-67139200	Weak transcription	Fetal Stomach	stomach
20	chr17:67138200-67143400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:67138200-67150600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:67138200-67151200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr17:67138200-67151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:67138200-67152200	Weak transcription	Fetal Muscle Leg	muscle
25	chr17:67138400-67139800	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:67138600-67139600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr17:67138600-67140000	Enhancers	HUVEC	blood vessel
28	chr17:67138600-67142000	Enhancers	Osteobl	bone
29	chr17:67138600-67147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:67138600-67155400	Weak transcription	Brain Anterior Caudate	brain
31	chr17:67138800-67139400	Enhancers	Liver	Liver
32	chr17:67138800-67139400	Weak transcription	Fetal Lung	lung
33	chr17:67138800-67139600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:67138800-67139800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:67138800-67139800	Enhancers	Adipose Nuclei	Adipose
36	chr17:67138800-67140000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:67138800-67140000	Weak transcription	Small Intestine	intestine
38	chr17:67138800-67141200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:67138800-67141200	Weak transcription	Ovary	ovary
40	chr17:67138800-67141800	Weak transcription	Right Atrium	heart
41	chr17:67138800-67142000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:67138800-67142000	Enhancers	NHDF-Ad	bronchial
43	chr17:67138800-67152000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:67138800-67162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:67138800-67182000	Weak transcription	Brain Inferior Temporal Lobe	brain

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