Variant report

Variant	rs78812049
Chromosome Location	chr17:17382848-17382849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17379018..17381864-chr17:17382301..17386049,5	MCF-7	breast:
2	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
3	chr17:17349350..17351226-chr17:17382738..17384846,2	K562	blood:
4	chr17:17382327..17386627-chr17:17397610..17400464,6	MCF-7	breast:
5	chr17:17382779..17384449-chr17:17466823..17468946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141026	Chromatin interaction
ENSG00000108551	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	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17380400-17385600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr17:17381000-17383200	Weak transcription	Lung	lung
3	chr17:17381200-17383000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr17:17381200-17383800	Weak transcription	Gastric	stomach
5	chr17:17381200-17384000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:17381200-17384400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr17:17381200-17386600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:17381200-17391000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:17381200-17394200	Weak transcription	Ovary	ovary
10	chr17:17381200-17394400	Weak transcription	Aorta	Aorta
11	chr17:17381200-17395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:17381200-17397000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17381400-17383200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:17381400-17383400	Enhancers	Brain Germinal Matrix	brain
15	chr17:17381400-17383400	Enhancers	Fetal Intestine Large	intestine
16	chr17:17381400-17383800	Weak transcription	Pancreas	Pancrea
17	chr17:17381400-17384200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr17:17381400-17385800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr17:17381400-17386600	Enhancers	Thymus	Thymus
20	chr17:17381400-17388800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr17:17381400-17389400	Genic enhancers	Fetal Thymus	thymus
22	chr17:17381400-17392200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:17381400-17394400	Weak transcription	Colonic Mucosa	Colon
24	chr17:17381400-17397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr17:17381600-17383000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr17:17381600-17383200	Weak transcription	Left Ventricle	heart
27	chr17:17381600-17383800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:17381600-17384200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:17381600-17384600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:17381600-17385000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr17:17381600-17386200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:17381600-17387400	Weak transcription	HSMMtube	muscle
33	chr17:17381600-17387600	Weak transcription	Esophagus	oesophagus
34	chr17:17381600-17388800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:17381600-17394800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr17:17381800-17383000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:17381800-17383000	Enhancers	Colon Smooth Muscle	Colon
38	chr17:17381800-17383200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:17381800-17383400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:17381800-17383400	Genic enhancers	A549	lung
41	chr17:17381800-17383600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr17:17381800-17383800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:17381800-17383800	Weak transcription	Spleen	Spleen
44	chr17:17381800-17384000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr17:17381800-17384600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:17381800-17384600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr17:17381800-17384600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr17:17381800-17384600	Enhancers	HMEC	breast
49	chr17:17381800-17384800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:17381800-17385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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