Variant report

Variant	rs150469388
Chromosome Location	chr17:19896503-19896504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19895835..19896749-chr17:20019766..20020654,3	MCF-7	breast:
2	chr17:19895922..19896796-chr17:19912132..19914006,4	MCF-7	breast:
3	chr17:19895791..19896736-chr17:19912250..19913099,3	K562	blood:
4	chr17:19895744..19896716-chr17:20019670..20020642,8	MCF-7	breast:
5	chr17:19895147..19897764-chr17:19911354..19913515,3	K562	blood:
6	chr17:19895701..19896691-chr17:20019722..20020794,7	K562	blood:

Variant related genes	Relation type
ENSG00000128487	Chromatin interaction
ENSG00000261033	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3382860	chr17:19894909-19918588	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19890600-19899800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:19890800-19899400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:19890800-19899800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:19890800-19899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:19891600-19899800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:19896200-19896600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr17:19896200-19896600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:19896200-19896600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr17:19896200-19896600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr17:19896200-19896600	Enhancers	Primary B cells from peripheral blood	blood
11	chr17:19896200-19896600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr17:19896200-19896600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:19896200-19896600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr17:19896200-19896600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:19896200-19896600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:19896200-19896600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr17:19896200-19896600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:19896200-19896600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:19896200-19896600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr17:19896200-19896600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr17:19896200-19896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:19896200-19896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:19896200-19896600	Enhancers	Brain Germinal Matrix	brain
24	chr17:19896200-19896600	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr17:19896200-19896600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr17:19896200-19896600	Active TSS	Fetal Brain Female	brain
27	chr17:19896200-19896600	Bivalent Enhancer	Fetal Stomach	stomach
28	chr17:19896200-19896600	Bivalent Enhancer	Fetal Thymus	thymus
29	chr17:19896200-19896600	Enhancers	Right Atrium	heart
30	chr17:19896200-19896600	Enhancers	Stomach Mucosa	stomach
31	chr17:19896200-19896600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr17:19896200-19896600	Active TSS	A549	lung
33	chr17:19896200-19896600	Flanking Active TSS	Dnd41	blood
34	chr17:19896200-19896600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr17:19896200-19896800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr17:19896200-19896800	Enhancers	Placenta	Placenta
37	chr17:19896200-19896800	Active TSS	Hela-S3	cervix
38	chr17:19896400-19896600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr17:19896400-19896600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:19896400-19896600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:19896400-19896600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr17:19896400-19896600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:19896400-19896600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:19896400-19896600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr17:19896400-19896600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr17:19896400-19896600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:19896400-19896600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:19896400-19896600	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr17:19896400-19896600	Enhancers	Brain Anterior Caudate	brain
50	chr17:19896400-19896600	Flanking Active TSS	Brain Hippocampus Middle	brain

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