Variant report

Variant	rs551706579
Chromosome Location	chr17:19621574-19621575
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	BRCA1	chr17:19621445-19622377	HepG2	liver:	n/a	n/a
2	TEAD4	chr17:19620876-19621728	ECC-1	luminal epithelium:	n/a	chr17:19621166-19621175
3	TEAD4	chr17:19620575-19621589	ECC-1	luminal epithelium:	n/a	chr17:19621166-19621175

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19616686..19619985-chr17:19620299..19623719,4	MCF-7	breast:
2	chr17:19616430..19618663-chr17:19620797..19622524,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALDH3A1-1	chr17:19619037-19622150	NONHSAT146520
2	lnc-ALDH3A1-1	chr17:19621424-19623686	NONHSAT146521

Variant related genes	Relation type
SLC47A2	TF binding region
ENSG00000262681	TF binding region
ENSG00000180638	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv526290	chr17:19613357-19651482	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
2	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:19618200-19623200	Weak transcription	Pancreas	Pancrea
4	chr17:19619400-19622200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:19619400-19622200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:19619400-19622400	Enhancers	A549	lung
7	chr17:19619400-19622800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr17:19619400-19624800	Enhancers	Esophagus	oesophagus
9	chr17:19619400-19625000	Enhancers	Fetal Muscle Leg	muscle
10	chr17:19619600-19621600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr17:19619600-19621800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:19619600-19622200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:19619600-19622200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr17:19619600-19625000	Enhancers	HMEC	breast
15	chr17:19619800-19622000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:19619800-19622000	Enhancers	NHEK	skin
17	chr17:19619800-19627800	Enhancers	Fetal Intestine Large	intestine
18	chr17:19620000-19624800	Enhancers	HSMMtube	muscle
19	chr17:19620000-19628000	Enhancers	Fetal Intestine Small	intestine
20	chr17:19620200-19624800	Enhancers	Stomach Mucosa	stomach
21	chr17:19620400-19623800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:19620400-19625000	Enhancers	Colonic Mucosa	Colon
23	chr17:19620600-19621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:19620600-19622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:19620600-19622600	Enhancers	Gastric	stomach
26	chr17:19620600-19622600	Weak transcription	Spleen	Spleen
27	chr17:19620600-19623200	Enhancers	Duodenum Mucosa	Duodenum
28	chr17:19620600-19627400	Weak transcription	Brain Anterior Caudate	brain
29	chr17:19620800-19623600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr17:19620800-19624800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr17:19621200-19621600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:19621200-19622600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr17:19621200-19623200	Weak transcription	Small Intestine	intestine
34	chr17:19621200-19624800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr17:19621400-19621800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:19621400-19621800	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr17:19621400-19622800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr17:19621400-19623400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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