Variant report

Variant	rs113693372
Chromosome Location	chr17:45786864-45786865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45785203..45787542-chr17:49025018..49027418,2	MCF-7	breast:
2	chr17:45784180..45787003-chr17:45793281..45796210,2	MCF-7	breast:
3	chr17:45769737..45776634-chr17:45782264..45787954,12	K562	blood:
4	chr17:45784401..45787875-chr17:45788488..45791249,4	MCF-7	breast:
5	chr17:45777137..45782464-chr17:45784675..45788885,8	K562	blood:
6	chr17:45757742..45760648-chr17:45785190..45787217,2	K562	blood:

Variant related genes	Relation type
ENSG00000108424	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3322244	chr17:45785753-45787001	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45773400-45790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:45775000-45790800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:45778600-45788200	Weak transcription	HUVEC	blood vessel
4	chr17:45779600-45788000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45781600-45787000	Genic enhancers	Fetal Muscle Leg	muscle
6	chr17:45782600-45790000	Weak transcription	A549	lung
7	chr17:45784400-45789600	Weak transcription	NHDF-Ad	bronchial
8	chr17:45784600-45789000	Weak transcription	Thymus	Thymus
9	chr17:45784800-45788800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:45784800-45789600	Weak transcription	GM12878-XiMat	blood
11	chr17:45784800-45790200	Weak transcription	Liver	Liver
12	chr17:45785000-45787000	Weak transcription	Fetal Lung	lung
13	chr17:45785000-45789200	Weak transcription	Primary B cells from cord blood	blood
14	chr17:45785000-45791600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr17:45785200-45787000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:45785200-45787200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:45785200-45788400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr17:45785200-45788400	Weak transcription	Fetal Thymus	thymus
19	chr17:45785200-45788600	Weak transcription	Primary T cells from cord blood	blood
20	chr17:45785200-45789200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:45785200-45789200	Weak transcription	HepG2	liver
22	chr17:45785200-45789400	Weak transcription	K562	blood
23	chr17:45785200-45789600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr17:45785200-45789600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr17:45785400-45787600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:45785400-45788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr17:45785400-45790000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr17:45785400-45791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:45785400-45791200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:45785600-45787000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr17:45785600-45787000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr17:45785600-45787600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:45785600-45788200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:45785600-45788200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:45785600-45788200	Strong transcription	Spleen	Spleen
36	chr17:45785600-45789000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr17:45785600-45790200	Weak transcription	HSMMtube	muscle
38	chr17:45785800-45787000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:45785800-45787000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr17:45785800-45787200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr17:45785800-45787600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr17:45785800-45788000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:45785800-45790000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:45785800-45791000	Weak transcription	Colon Smooth Muscle	Colon
45	chr17:45785800-45792000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:45786000-45787600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:45786000-45787800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:45786000-45788200	Weak transcription	Brain Angular Gyrus	brain
49	chr17:45786000-45789200	Weak transcription	Brain Substantia Nigra	brain
50	chr17:45786000-45789200	Weak transcription	NHLF	lung

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