Variant report

Variant	rs550123962
Chromosome Location	chr17:45785753-45785754
allele	A/C
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	chr17:45726608..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	chr17:45757742..45760648-chr17:45785190..45787217,2	K562	blood:

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000108424	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:105 , 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	chr17:45778600-45786000	Weak transcription	Aorta	Aorta
4	chr17:45778600-45788200	Weak transcription	HUVEC	blood vessel
5	chr17:45779400-45785800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:45779400-45786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:45779400-45786800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:45779600-45788000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:45781400-45786000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr17:45781600-45787000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr17:45781800-45785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:45781800-45785800	Enhancers	Right Atrium	heart
13	chr17:45781800-45786000	Enhancers	Left Ventricle	heart
14	chr17:45781800-45786000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr17:45781800-45786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:45782400-45786000	Enhancers	Right Ventricle	heart
17	chr17:45782400-45786200	Enhancers	Fetal Heart	heart
18	chr17:45782600-45790000	Weak transcription	A549	lung
19	chr17:45783600-45785800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:45783800-45785800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45783800-45785800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:45783800-45785800	Enhancers	Colon Smooth Muscle	Colon
23	chr17:45784000-45786200	Enhancers	Pancreas	Pancrea
24	chr17:45784000-45786600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:45784200-45785800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45784200-45785800	Weak transcription	Ovary	ovary
27	chr17:45784200-45785800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr17:45784400-45786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45784400-45789600	Weak transcription	NHDF-Ad	bronchial
30	chr17:45784600-45785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:45784600-45789000	Weak transcription	Thymus	Thymus
32	chr17:45784800-45786200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:45784800-45786800	Weak transcription	Adipose Nuclei	Adipose
34	chr17:45784800-45788800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:45784800-45789600	Weak transcription	GM12878-XiMat	blood
36	chr17:45784800-45790200	Weak transcription	Liver	Liver
37	chr17:45785000-45785800	Weak transcription	Gastric	stomach
38	chr17:45785000-45785800	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr17:45785000-45787000	Weak transcription	Fetal Lung	lung
40	chr17:45785000-45789200	Weak transcription	Primary B cells from cord blood	blood
41	chr17:45785000-45791600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:45785200-45785800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr17:45785200-45786000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr17:45785200-45786000	Weak transcription	Psoas Muscle	Psoas
45	chr17:45785200-45786200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr17:45785200-45787000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:45785200-45787200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:45785200-45788400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr17:45785200-45788400	Weak transcription	Fetal Thymus	thymus
50	chr17:45785200-45788600	Weak transcription	Primary T cells from cord blood	blood

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