Variant report

Variant	rs553715881
Chromosome Location	chr17:19655179-19655180
allele	C/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	TCF12	chr17:19655127-19657555	A549	lung:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
2	CEBPB	chr17:19655093-19655469	Hela-S3	cervix:	n/a	n/a
3	FOSL2	chr17:19655170-19657625	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554 chr17:19656884-19656896
4	ESR1	chr17:19655170-19656116	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr17:19655162-19657509	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
6	SP1	chr17:19655099-19657664	A549	lung:	n/a	chr17:19656877-19656884
7	CEBPB	chr17:19655106-19655389	A549	lung:	n/a	n/a
8	FOXM1	chr17:19655151-19656179	ECC-1	luminal epithelium:	n/a	n/a
9	E2F6	chr17:19655175-19657633	A549	lung:	n/a	n/a
10	SP1	chr17:19655142-19657550	A549	lung:	n/a	chr17:19656877-19656884
11	MAX	chr17:19655176-19657680	A549	lung:	n/a	n/a
12	EP300	chr17:19654995-19657566	ECC-1	luminal epithelium:	n/a	chr17:19656968-19656975
13	SIX5	chr17:19655087-19657705	A549	lung:	n/a	chr17:19656117-19656126

No.	Distal block	Cell Line	Cell type
1	chr11:67397857..67399603-chr17:19654494..19656370,2	MCF-7	breast:
2	chr11:67406449..67409216-chr17:19654457..19656822,7	MCF-7	breast:
3	chr17:19641453..19644108-chr17:19654195..19656369,2	MCF-7	breast:
4	chr11:67397006..67400354-chr17:19655005..19658242,3	MCF-7	breast:
5	chr11:67405096..67409176-chr17:19654881..19658832,8	MCF-7	breast:
6	chr17:19651262..19653097-chr17:19654120..19656277,2	K562	blood:
7	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
8	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:

Variant related genes	Relation type
ALDH3A1	TF binding region
ENSG00000230607	TF binding region
ENSG00000167800	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000108602	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv457704	chr17:19620477-19663747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv470582	chr17:19620477-19663747	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv574580	chr17:19620477-19663747	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19648800-19656200	Weak transcription	Aorta	Aorta
2	chr17:19648800-19657000	Weak transcription	Spleen	Spleen
3	chr17:19649000-19656400	Weak transcription	Right Atrium	heart
4	chr17:19649200-19656200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:19650200-19656800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:19650600-19657000	Enhancers	HMEC	breast
7	chr17:19650600-19657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:19651000-19656200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:19652000-19655400	Weak transcription	HSMMtube	muscle
10	chr17:19652000-19655800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:19652200-19655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:19652200-19655800	Weak transcription	Brain Angular Gyrus	brain
13	chr17:19652200-19656000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:19652200-19656000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr17:19652200-19656000	Weak transcription	Osteobl	bone
16	chr17:19652400-19655400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:19652400-19655400	Weak transcription	Brain Substantia Nigra	brain
18	chr17:19652400-19655600	Weak transcription	Adipose Nuclei	Adipose
19	chr17:19652400-19655600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:19652400-19655800	Weak transcription	Brain Anterior Caudate	brain
21	chr17:19652400-19655800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:19652400-19655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:19652400-19656200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:19652400-19656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:19652400-19656600	Weak transcription	Pancreas	Pancrea
26	chr17:19652600-19655400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr17:19652600-19655400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr17:19652600-19655400	Enhancers	Hela-S3	cervix
29	chr17:19652600-19655400	Weak transcription	NHDF-Ad	bronchial
30	chr17:19652600-19655600	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:19652600-19655800	Weak transcription	Colonic Mucosa	Colon
32	chr17:19652600-19656000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr17:19652600-19656200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:19652600-19656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr17:19653400-19655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:19653400-19657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:19654400-19655800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:19654400-19658600	Enhancers	Stomach Mucosa	stomach
39	chr17:19654600-19655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:19654600-19656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:19654600-19656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:19654600-19656400	Weak transcription	Lung	lung
43	chr17:19654800-19655200	Weak transcription	Esophagus	oesophagus
44	chr17:19654800-19655200	Weak transcription	HSMM	muscle
45	chr17:19654800-19655400	Enhancers	A549	lung
46	chr17:19654800-19655800	Weak transcription	HepG2	liver
47	chr17:19654800-19656000	Weak transcription	Gastric	stomach
48	chr17:19654800-19656200	Weak transcription	GM12878-XiMat	blood
49	chr17:19655000-19655400	Weak transcription	HUVEC	blood vessel
50	chr17:19655000-19656000	Enhancers	NHEK	skin

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