Variant report

Variant	rs559347109
Chromosome Location	chr17:45784980-45784981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45783460..45785399-chr17:45884818..45886896,2	K562	blood:
2	chr17:45726608..45729781-chr17:45781854..45785868,4	K562	blood:
3	chr17:45784180..45787003-chr17:45793281..45796210,2	MCF-7	breast:
4	chr17:45769737..45776634-chr17:45782264..45787954,12	K562	blood:
5	chr17:45784401..45787875-chr17:45788488..45791249,4	MCF-7	breast:
6	chr17:45777137..45782464-chr17:45784675..45788885,8	K562	blood:
7	chr17:45770669..45772225-chr17:45782978..45785490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000108424	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3324718	chr17:45784978-45787926	Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45773400-45785600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:45773400-45790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:45775000-45785200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:45775000-45790800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:45776600-45785600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr17:45778200-45785600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:45778600-45786000	Weak transcription	Aorta	Aorta
8	chr17:45778600-45788200	Weak transcription	HUVEC	blood vessel
9	chr17:45778800-45785000	Enhancers	Primary B cells from cord blood	blood
10	chr17:45779000-45785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45779200-45785200	Enhancers	Primary hematopoietic stem cells	blood
12	chr17:45779200-45785400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:45779400-45785800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:45779400-45786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:45779400-45786800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:45779600-45785400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:45779600-45788000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45780800-45785200	Enhancers	Fetal Thymus	thymus
19	chr17:45781000-45785000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:45781000-45785400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:45781000-45785400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:45781000-45785600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr17:45781000-45785600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr17:45781000-45785600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr17:45781000-45785600	Enhancers	Duodenum Mucosa	Duodenum
26	chr17:45781200-45785600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:45781400-45785200	Enhancers	Primary B cells from peripheral blood	blood
28	chr17:45781400-45785200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr17:45781400-45785400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:45781400-45786000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr17:45781600-45785200	Enhancers	Primary T cells from cord blood	blood
32	chr17:45781600-45785400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:45781600-45787000	Genic enhancers	Fetal Muscle Leg	muscle
34	chr17:45781800-45785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr17:45781800-45785800	Enhancers	Right Atrium	heart
36	chr17:45781800-45786000	Enhancers	Left Ventricle	heart
37	chr17:45781800-45786000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr17:45781800-45786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:45782400-45785400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:45782400-45785600	Genic enhancers	Spleen	Spleen
41	chr17:45782400-45786000	Enhancers	Right Ventricle	heart
42	chr17:45782400-45786200	Enhancers	Fetal Heart	heart
43	chr17:45782600-45785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:45782600-45790000	Weak transcription	A549	lung
45	chr17:45783200-45785200	Enhancers	Fetal Brain Male	brain
46	chr17:45783200-45785600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr17:45783400-45785000	Enhancers	Gastric	stomach
48	chr17:45783400-45785400	Enhancers	Brain Hippocampus Middle	brain
49	chr17:45783400-45785600	Genic enhancers	Fetal Stomach	stomach
50	chr17:45783400-45785600	Enhancers	Skeletal Muscle Male	skeletal muscle

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