Variant report

Variant	rs562805935
Chromosome Location	chr17:19626727-19626728
allele	A/C
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	STAT3	chr17:19626477-19626835	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr17:19626504-19626741	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr17:19626439-19626916	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr17:19626301-19626868	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr17:19626445-19626778	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19625321..19633420-chr17:19643892..19652817,11	MCF-7	breast:
2	chr17:19624830..19631833-chr17:19654160..19660410,12	MCF-7	breast:
3	chr17:19626221..19628262-chr17:19634519..19636560,2	MCF-7	breast:
4	chr17:19626307..19628911-chr8:125486241..125488488,2	MCF-7	breast:

Variant related genes	Relation type
SLC47A2	TF binding region
ENSG00000170881	Chromatin interaction
ENSG00000108602	Chromatin interaction
ENSG00000230607	Chromatin interaction
ENSG00000245149	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3406151	chr17:19626085-19628158	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 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	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
2	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:19619800-19627800	Enhancers	Fetal Intestine Large	intestine
4	chr17:19620000-19628000	Enhancers	Fetal Intestine Small	intestine
5	chr17:19620600-19627400	Weak transcription	Brain Anterior Caudate	brain
6	chr17:19623200-19648400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:19623400-19628000	Enhancers	Fetal Heart	heart
8	chr17:19624000-19627600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:19624000-19630600	Weak transcription	Small Intestine	intestine
10	chr17:19624200-19627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:19624200-19627800	Weak transcription	Fetal Lung	lung
12	chr17:19624400-19627200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr17:19624400-19627200	Weak transcription	Placenta	Placenta
14	chr17:19624400-19627200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr17:19624400-19627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr17:19624400-19627200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr17:19624400-19627400	Weak transcription	Left Ventricle	heart
18	chr17:19624600-19627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:19624600-19627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:19624600-19627400	Weak transcription	Adipose Nuclei	Adipose
21	chr17:19624600-19627400	Weak transcription	Liver	Liver
22	chr17:19624600-19627400	Weak transcription	Ovary	ovary
23	chr17:19624600-19627600	Weak transcription	Pancreas	Pancrea
24	chr17:19624800-19627400	Weak transcription	Esophagus	oesophagus
25	chr17:19624800-19627400	Weak transcription	Gastric	stomach
26	chr17:19624800-19627400	Weak transcription	Lung	lung
27	chr17:19624800-19627400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr17:19624800-19627400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:19624800-19627400	Weak transcription	Stomach Mucosa	stomach
30	chr17:19624800-19627400	Weak transcription	Spleen	Spleen
31	chr17:19624800-19627400	Weak transcription	HSMMtube	muscle
32	chr17:19624800-19627600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr17:19624800-19627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:19624800-19631400	Weak transcription	Brain Germinal Matrix	brain
35	chr17:19625000-19627400	Weak transcription	Colonic Mucosa	Colon
36	chr17:19625000-19630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:19625200-19631000	Weak transcription	Fetal Kidney	kidney
38	chr17:19625800-19630400	Weak transcription	HepG2	liver
39	chr17:19626200-19626800	Enhancers	Right Ventricle	heart
40	chr17:19626400-19626800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:19626400-19627200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:19626400-19627200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:19626400-19627200	Enhancers	NHEK	skin
44	chr17:19626400-19627600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:19626400-19627600	Enhancers	Duodenum Mucosa	Duodenum
46	chr17:19626400-19628000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:19626400-19628800	Enhancers	Fetal Muscle Leg	muscle
48	chr17:19626600-19626800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr17:19626600-19627000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:19626600-19627000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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